Choroba charcota-mariego-tootha
Leczenie
Choroba Charcota-Mariego-Tootha (CMT) to najczęstsza dziedziczna neuropatia obwodowa, charakteryzująca się postępującym uszkodzeniem nerwów obwodowych, prowadzącym do osłabienia mięśni i zaburzeń czucia. Częstość występowania wynosi około 1 na 2500 osób. Obecnie brak jest terapii przyczynowej, a leczenie ma charakter objawowy i wielodyscyplinarny, obejmujący neurologów, fizjoterapeutów, terapeutów zajęciowych, ortopedów i genetyków. Fizjoterapia, w tym ćwiczenia o niskiej intensywności, rozciąganie, wzmacnianie mięśni oraz ćwiczenia proprioceptywne, jest kluczowa dla spowolnienia progresji choroby i utrzymania funkcji ruchowych. W badaniach u dzieci z CMT wykazano, że sześciomiesięczne ćwiczenia oporowe o umiarkowanej intensywności mogą spowolnić osłabienie mięśni nawet o 30% oraz wzmocnić mięśnie w okresie dwuletnim. Ortezy stóp i rąk, w tym ortezy stawu skokowego i stopy (AFO), poprawiają stabilność chodu i zapobiegają deformacjom, a terapia zajęciowa wspiera funkcjonalność w codziennych czynnościach poprzez stosowanie urządzeń wspomagających.
- Wprowadzenie do leczenia choroby Charcota-Mariego-Tootha
- Fizjoterapia jako podstawowa metoda leczenia
- Terapia zajęciowa w poprawie funkcjonowania codziennego
- Ortotyka w leczeniu chorych z CMT
- Farmakoterapia w leczeniu objawowym CMT
- Leczenie chirurgiczne w chorobie Charcota-Mariego-Tootha
- Badania kliniczne i nowe terapie w leczeniu CMT
- Zalecenia dotyczące stylu życia i samoopieki
- Opieka multidyscyplinarna w chorobie Charcota-Mariego-Tootha
- Wsparcie psychologiczne i grupy wsparcia
- Przyszłość leczenia choroby Charcota-Mariego-Tootha
Wprowadzenie do leczenia choroby Charcota-Mariego-Tootha
Choroba Charcota-Mariego-Tootha (CMT) to grupa dziedzicznych neuropatii obwodowych, które charakteryzują się postępującym uszkodzeniem nerwów obwodowych, prowadzącym do osłabienia mięśni i zaburzeń czucia. Jest to najczęstsza dziedziczna neuropatia obwodowa, występująca z częstością około 1 na 2500 osób1. Aktualnie nie istnieje lekarstwo, które całkowicie wyleczyłoby chorobę Charcota-Mariego-Tootha23. Choroba ta zazwyczaj postępuje powoli i nie wpływa na skrócenie oczekiwanej długości życia pacjentów4.
Leczenie choroby Charcota-Mariego-Tootha skupia się głównie na łagodzeniu objawów, spowalnianiu postępu choroby oraz poprawie jakości życia pacjentów56. Optymalne postępowanie ma charakter multidyscyplinarny i obejmuje opiekę neurologów, fizjoterapeutów, terapeutów zajęciowych, fizjatrów, ortopedów oraz genetyków78. Wczesne rozpoczęcie programu leczniczego może pomóc pacjentom w utrzymaniu jakości życia9.
Fizjoterapia jako podstawowa metoda leczenia
Fizjoterapia stanowi jeden z najważniejszych elementów leczenia choroby Charcota-Mariego-Tootha10. Programy fizjoterapeutyczne są indywidualnie dostosowywane do potrzeb każdego pacjenta i zazwyczaj obejmują ćwiczenia o niskiej intensywności oraz techniki rozciągające11. Celem fizjoterapii jest utrzymanie jak największej sprawności ruchowej, elastyczności oraz siły mięśniowej12.
Badania wskazują, że ćwiczenia fizyczne są skuteczną strategią leczenia dla osób we wczesnych stadiach CMT13. Aby zapobiec postępowi choroby, zalecane są interwencje rehabilitacyjne obejmujące wzmacnianie mięśni, rozciąganie, ćwiczenia kondycyjne o charakterze aerobowym oraz ćwiczenia proprioceptywne1415. Regularne wykonywanie ćwiczeń rozciągających już na wczesnym etapie choroby może pomóc opóźnić powstawanie przykurczów w stawach skokowych16.
Programy ćwiczeń oporowych o progresywnym charakterze mogą poprawiać wyniki funkcjonalne u pacjentów z CMT17. W badaniu przeprowadzonym na dzieciach z CMT wykazano, że sześciomiesięczne ćwiczenia oporowe o umiarkowanej intensywności mogą nie tylko spowolnić progresję osłabienia mięśni nawet o 30% w porównaniu z pacjentami, którzy nie ćwiczyli, ale także wzmocnić ich mięśnie w okresie dwuletnim18.
Zalecane są ćwiczenia o niskim obciążeniu dla stawów, takie jak pływanie, rower czy chodzenie19. Program fizjoterapeutyczny powinien być zaplanowany przez wykwalifikowanego fizjoterapeutę i zatwierdzony przez lekarza prowadzącego20. Rozpoczęcie fizjoterapii wcześnie i regularne jej kontynuowanie może pomóc zapobiec niepełnosprawności21.
Terapia zajęciowa w poprawie funkcjonowania codziennego
W późniejszym stadium choroby Charcota-Mariego-Tootha wielu pacjentów doświadcza osłabienia w rękach i przedramionach, co powoduje trudności z chwytaniem i precyzyjnymi ruchami palców, takimi jak obracanie klamek czy zapinanie guzików i zamków błyskawicznych22. Terapia zajęciowa koncentruje się na pomocy pacjentom w wykonywaniu codziennych zadań poprzez wykorzystanie urządzeń wspomagających i adaptacyjnych23.
Terapeuci zajęciowi mogą zalecać specjalne gumowe uchwyty na klamki drzwi lub zmianę ubrań z guzikami na ubrania z zapięciami na rzepy2425. Głównym celem terapii zajęciowej jest poprawa funkcjonalności pacjenta w codziennych aktywnościach oraz zwiększenie jakości życia poprzez nauczanie technik adaptacyjnych i dostarczanie niezbędnych urządzeń wspomagających26.
Badania wykazały, że stosowanie szyn i ortez znacząco zwiększa funkcjonalność w codziennych czynnościach, a także wydajność zawodową pacjentów z CMT27. Terapia zajęciowa może pomóc w utrzymaniu precyzyjnych ruchów palców oraz zapewnić narzędzia wspomagające wykonywanie codziennych czynności28.
Zastosowanie urządzeń wspomagających
Urządzenia wspomagające mogą zwiększyć mobilność pacjenta, zapewnić wsparcie i zmniejszyć ryzyko urazów29. Pacjenci z CMT często wymagają zastosowania specjalistycznych urządzeń ortopedycznych w celu utrzymania codziennej mobilności i zapobiegania urazom30.
Szyny kciuka mogą pomóc w słabości rąk i umiejętnościach motoryki małej31. Wczesne korzystanie z takich urządzeń wspomagających (przed wystąpieniem niepełnosprawności) może zapobiec przeciążeniom mięśni i zmniejszyć osłabienie mięśni32.
Ortotyka w leczeniu chorych z CMT
Ortotyka jest ważną metodą w leczeniu choroby Charcota-Mariego-Tootha, uzupełniającą podejścia rehabilitacyjne i odgrywającą istotną rolę w poprawie równowagi, chodu oraz zdolności do wykonywania codziennych czynności3334.
Wraz z postępem choroby może być wymagane stosowanie ortez stóp, które spowalniają rozwój deformacji, zapobiegają opadaniu stopy, stabilizują chód i zmniejszają ból lub powstawanie odleżyn35. Ortezy stawu skokowego i stopy (AFO) mogą pomóc w poprawie stabilności podczas chodzenia i wchodzenia po schodach36.
Dla wielu pacjentów pierwsza wizyta u neurologa ma miejsce po zauważeniu częstych potknięć i upadków, skręceń stawu skokowego lub złamań kostki, które są spowodowane opadaniem stopy. W takich przypadkach pomocne może być noszenie butów za kostkę lub wysokich butów, aby zapewnić wsparcie dla stawów skokowych37. Inni mogą wymagać ortez nóg, takich jak orteza stopy i stawu skokowego (AFO), czyli zdejmowana rama, która dobrze dopasowuje się do stopy i kostki38.
Badania wykazały, że stosowanie ortez wiąże się ze znaczną poprawą zakresu ruchu w zgięciu grzbietowym stawu skokowego, co pozwala na lepszą kinematykę chodu39. Ortezy ręki również mogą być pomocne, choć ich skuteczność wymaga jeszcze dokładniejszego zbadania40.
Wszyscy pacjenci w każdym wieku z CMT powinni zostać ocenieni pod kątem odpowiedniego zaopatrzenia ortotycznego. Dobre ortezy mogą poprawić jakość życia oraz opóźnić lub wyeliminować potrzebę operacji ortopedycznej41.
Farmakoterapia w leczeniu objawowym CMT
Obecnie nie ma dostępnych metod leczenia, które mogłyby całkowicie wyleczyć pacjentów z chorobą Charcota-Mariego-Tootha lub spowolnić jej postęp42. Jednakże istnieją leki, które lekarze mogą przepisać w celu leczenia objawów CMT, a nie samej choroby43. Leki mogą odgrywać kluczową rolę w pomaganiu pacjentom w radzeniu sobie z objawami i poprawie jakości życia44.
CMT często powoduje przewlekły ból neuropatyczny, który utrudnia codzienne życie z chorobą Charcota-Mariego-Tootha. Jeśli neuropatia powoduje ból, który obniża jakość życia, wówczas ten objaw powinien być leczony45.
Leki stosowane w leczeniu bólu neuropatycznego
Choroba Charcota-Mariego-Tootha może czasami powodować ból z powodu skurczów mięśni lub uszkodzenia nerwów. Jeśli ból jest problemem, leki przeciwbólowe na receptę mogą pomóc w jego kontrolowaniu46.
Cymbalta (duloksetyna) jest jednym z niewielu leków, które przeszły długi proces uzyskania zatwierdzenia przez FDA w leczeniu bólu neuropatycznego, szczególnie w neuropatii cukrzycowej, ale ogólnie jest stosowana w każdym rodzaju bólu związanego z neuropatią47.
Wenlafaksyna (Effexor) to popularny i szeroko stosowany lek przeciwdepresyjny, który jest również używany do leczenia bólu neuropatycznego, szczególnie dobrze przebadany u pacjentów z neuropatią cukrzycową, chociaż lek ten nie ma obecnie specyficznych wskazań FDA do tego zastosowania48.
Leki trójpierścieniowe przeciwdepresyjne mogą być przepisane, jeśli niesteroidowe leki przeciwzapalne nie są skuteczne. Leki te są normalnie stosowane w leczeniu depresji, ale mogą łagodzić ból neuropatyczny, choć mogą powodować działania niepożądane49.
Według ekspertów ds. CMT, Botox nie jest zalecany dla osób z CMT, ale może być stosowany w obszarach, które nie są bezpośrednio dotknięte przez CMT (np. twarz)50.
Leki rozluźniające mięśnie, takie jak Soma, nie powinny wpływać na nerwy ani siłę mięśniową, ale mogą powodować sedację lub senność51. Nie ma dowodów łączących ich stosowanie z pogarszaniem się lub wywoływaniem neuropatii, nieprawidłowych skurczów mięśni lub skurczów mięśni52.
Nie ma zgłoszonych przeciwwskazań dla osób z neuropatiami obwodowymi do stosowania leków dostępnych bez recepty, takich jak tylenol, aspiryna i Advil53.
Leczenie chirurgiczne w chorobie Charcota-Mariego-Tootha
W przypadku ciężkich deformacji stóp, korekcyjna operacja stóp może pomóc złagodzić ból i poprawić zdolność chodzenia. Należy jednak pamiętać, że operacja nie może poprawić osłabienia mięśni ani utraty czucia54.
Z czasem deformacje u pacjentów z CMT zwykle postępują, stając się coraz poważniejsze. We wczesnych stadiach choroby elastyczne deformacje, w tym deformacje typu equines, cavus, czy przodostopie w ustawieniu koślawym (valgus) i tyłostopie w ustawieniu szpotawym (varus), mogą być korygowane przez osteotomie zachowujące stawy, uwolnienie tkanek miękkich oraz transfery ścięgien, z dokładną oceną przedoperacyjną i indywidualnymi planami55.
Celem operacji w przypadku choroby Charcota-Mariego-Tootha jest pomoc w zachowaniu lub poprawie ruchu i funkcji wraz z postępem choroby. Najczęstszymi lokalizacjami zabiegów w CMT są stopa i staw skokowy. Inne obszary, które mogą odnieść korzyści z operacji, to biodro (aby zapobiec zwichnięciu), kolano (aby uniknąć zwichnięcia rzepki) oraz kręgosłup w celu korekcji i stabilizacji skoliozy56.
Operacja mająca na celu rozwiązanie problemu osłabienia stopy i stawu skokowego oraz potencjalnie bolesnej stopy wydrążonej (wysokie łuki) wymaga wieloetapowej operacji rekonstrukcyjnej stopy i stawu skokowego, która obejmuje uwolnienie tkanek miękkich i transfery ścięgien w celu usunięcia przykurczów i przywrócenia równowagi sił mięśniowych. Osteotomie lub zespolenia stawów są często konieczne do ponownego wyrównania kości w celu poprawy pozycji stopy, zmniejszenia bólu i poprawy efektywności chodu (pomoc pacjentowi w bardziej naturalnym chodzeniu i mniejszym wysiłku lub obciążeniu stopy)57.
W przypadku dysplazji stawu biodrowego kości kości udowej i miednicy mogą być przestawione w celu poprawy sposobu, w jaki staw biodrowy pasuje do siebie, pomagając przywrócić jego anatomię i funkcję. W przypadku skoliozy zastosowanie gorsetów jest często nieskuteczne w zatrzymaniu postępu deformacji kręgosłupa, dlatego operacja zespolenia kręgosłupa jest zazwyczaj główną opcją leczenia58.
Operacje ortopedyczne mogą być również stosowane w celu korekcji znacznych deformacji wokół stopy i stawu skokowego. Te interwencje chirurgiczne koncentrują się na zespoleniu, transferach ścięgien lub obu tych metodach, aby ponownie ustawić stopę i pomóc zrównoważyć siły wokół stopy powodujące deformację59.
Badania kliniczne i nowe terapie w leczeniu CMT
Naukowcy badają szereg potencjalnych terapii, które mogą kiedyś leczyć chorobę Charcota-Mariego-Tootha. Potencjalne terapie obejmują leki, terapię genową i procedury in vitro, które mogą pomóc zapobiec przekazywaniu choroby przyszłym pokoleniom60.
Leczenie farmakologiczne CMT skupia się głównie na łagodzeniu objawów, podczas gdy terapia genowa ma na celu złagodzenie lub potencjalne wyleczenie objawów CMT przy minimalnych zdarzeniach niepożądanych poprzez przeniesienie materiału genetycznego do komórek pacjentów6162.
Terapia genowa to leczenie choroby poprzez przeniesienie materiału genetycznego do komórek pacjentów. Dodawanie genów i zastępowanie genów to ważne metody terapii genowych. Obecna technologia edycji genów tworzy podstawy do formułowania przyszłych terapii chorób6364.
Aktualne badania kliniczne nad nowymi terapiami CMT
W odniesieniu do leczenia genetycznego, kluczowym czynnikiem jest to, czy forma CMT pacjenta jest przekazywana w sposób autosomalny dominujący czy autosomalny recesywny. Narzędzie takie jak CRISPR mogłoby być używane do bezpośredniej edycji części genomu z mutacją powodującą CMT, lub wektor wirusowy mógłby dostarczyć zdrową, dziko-typową kopię genu65.
Obecnie w toku jest około siedem różnych projektów na froncie terapeutyki RNA w CMT, w tym sześć koncentrujących się na typie 1A66. Wśród obiecujących produktów, które według oczekiwań wkrótce przejdą z badań przedklinicznych do klinicznych, wyróżniają się:
- TVR110 firmy Armatus Bio – produkt mikroRNA do iniekcji dokanałowej, który ma na celu zmniejszenie nadekspresji PMP2267
- Mały interferujący RNA do podawania dożylnego do komórek Schwanna, opracowywany przez DTx Pharma/Novartis68
Terapia genowa dla CMT1A opracowana przez Armatus Bio opiera się na zakończonym projekcie badawczym finansowanym przez CMTRF, prowadzonym przez dr Kleopasa Kleopa z Cypryjskiego Instytutu Neurologii i Genetyki we współpracy z dr Scottem Q. Harperem i jego zespołem z Nationwide Children’s Hospital. Zespół opracował terapię opartą na RNAi zwektoryzowanym dla CMT1A, której celem jest zmniejszenie lub wyeliminowanie objawów choroby poprzez obniżenie poziomów nadmiaru PMP22, sprawcy CMT1A69.
W przypadku rzadkiego podtypu CMT znanego jako niedobór dehydrogenazy sorbitolowej (SORD), spowodowanego mutacjami w genie SORD, prowadzone są badania nad eksperymentalnym lekiem o nazwie govorestat (AT-007) przez firmę Applied Therapeutics. Lek ten jest testowany u 56 pacjentów w podwójnie ślepym, randomizowanym, kontrolowanym placebo badaniu rejestracyjnym fazy 370.
NMD670 to mała cząsteczka inhibitora swoistego dla mięśni szkieletowych kanału jonowego chlorkowego CIC-1. W listopadzie 2024 roku firma NMD Pharma ogłosiła rozpoczęcie badania klinicznego fazy 2 o nazwie SYNAPSE-CMT, które będzie testować dwukrotną dzienną doustną dawkę NMD670 przez 21 dni u 80 dorosłych pacjentów z genetycznie potwierdzonym podtypem CMT1 lub CMT271. FDA przyznała lekowi NMD670 status leku sierocego (ODD)72.
PXT3003 jest kombinacją trzech już zatwierdzonych leków: baklofenu, naltreksonu i sorbitolu. Obecnie trwa kluczowe badanie fazy 373. Badanie PLEO-CMT było 15-miesięcznym badaniem z podwójnie ślepą próbą, które oceniało skuteczność i bezpieczeństwo dwóch dawek PXT3003 w porównaniu z placebo u 323 pacjentów (w wieku 16-65 lat) z łagodną do umiarkowanej CMT 1A74.
Ricolinostat (ACY-1215), zaprojektowany w celu przywrócenia funkcji nerwów poprzez hamowanie białka deacetylazy histonowej 6, jest opracowywany do leczenia CMT typu 2, a także neuropatii obwodowej wywołanej cukrzycą i chemioterapią. Obecnie trwa nabór do badania fazy 2 u pacjentów z CMT275.
Zalecenia dotyczące stylu życia i samoopieki
Poza leczeniem medycznym, osoby z chorobą Charcota-Mariego-Tootha mogą zoptymalizować swoją jakość życia i utrzymać ogólne dobre samopoczucie poprzez łączenie leczenia medycznego z praktykami samoopieki76.
Zaleca się unikanie przedłużonego unieruchomienia, które może przyspieszyć postęp choroby77. Regularne wizyty kontrolne u pracowników służby zdrowia są niezbędne, aby dostosować opiekę wraz z postępem choroby78.
Pielęgnacja stóp jest bardzo ważna dla osób z CMT. Jest to spowodowane utratą czucia w stopach, co oznacza, że obrażenia, owrzodzenia lub rany mogą nie być odczuwane lub zauważone od razu79. Utrata czucia w stopach może sprawić, że małe pęcherze lub rany szybko przekształcą się w poważne infekcje. Codziennie sprawdzaj swoje stopy pod kątem jakichkolwiek problemów. Wybieraj dobrze dopasowane buty. Skonsultuj się z podologiem w celu usunięcia odcisków, które mogą rozwinąć się z powodu deformacji stóp80.
Pacjenci z chorobą Charcota-Mariego-Tootha powinni unikać leków i substancji znanych z powodowania uszkodzeń nerwów (np. winkrystyna, izoniazyd i nitrofurantoina)81.
Choroba Charcota-Mariego-Tootha jest zaburzeniem postępującym i będzie wymagać ciągłego leczenia przez całe życie pacjenta. Wraz ze zmianami zachodzącymi w oparciu o postęp zaburzenia, ważne będzie regularne kontrolowanie się u lekarza. Zwykle leczenie będzie podejściem zespołowym, w którym chirurg ortopeda specjalizujący się w stopie i stawie skokowym będzie współpracował z kilkoma innymi specjalistami w opiece nad pacjentem. Jeśli objawy zmieniają się lub pogarszają przed regularną kontrolą, ważne jest, aby skontaktować się z lekarzem i zostać wcześniej zbadanym82.
Opieka multidyscyplinarna w chorobie Charcota-Mariego-Tootha
Choroba Charcota-Mariego-Tootha powinna być leczona przez osoby, które mają wiedzę na temat tego schorzenia. Oznacza to, że leczenie powinno być nadzorowane przez lekarza neurologa (lub neurologa dziecięcego) ze specjalistycznym zainteresowaniem neuropatią obwodową (która obejmuje CMT) lub lekarza medycyny rehabilitacyjnej z zainteresowaniem chorobami nerwowo-mięśniowymi83.
Neurolog specjalizuje się w zrozumieniu tego, jak działają nerwy, co może pójść z nimi nie tak, prawdopodobny przebieg wszelkich problemów oraz jakie opcje leczenia i opieki mogą pomóc84.
Kilku specjalistów medycznych jest zazwyczaj zaangażowanych w ciągłą opiekę nad osobami z CMT. Należą do nich chirurdzy ortopedzi, fizjoterapeuci, terapeuci zajęciowi, ortoci i podolodzy85.
Klinika CMT w UI Health, stworzona we współpracy z Charcot Marie Tooth Association (CMTA) kierowana przez dr Charlesa Abramsa, gromadzi zespół specjalistów medycznych, którzy spotykają się i leczą pacjentów w jednym miejscu, wszystko w ciągu jednego dnia. Multidyscyplinarne podejście pozwala naszym pacjentom nie tylko mieć możliwość omówienia swoich potrzeb medycznych ze specjalistą chorób nerwowo-mięśniowych oraz z kompleksowym zespołem specjalistów medycznych, którzy są dobrze zorientowani w CMT, w tym doradców genetycznych, fizjoterapeutów, terapeutów zajęciowych, ortotów, dietetyków, pracowników socjalnych i pielęgniarek86.
Zespół kliniczny zapewnia ważną opiekę medyczną dla pacjentów i aktualizuje ich informacje o najnowszych badaniach i krajobrazie leczenia, jednocześnie pomagając im w zarządzaniu ich chorobą w wspierającym, specjalistycznym, współpracującym środowisku87.
Wsparcie psychologiczne i grupy wsparcia
Choroba Charcota-Mariego-Tootha może być trudna do życia, dlatego ważne jest, aby pacjenci otrzymywali wsparcie psychologiczne w radzeniu sobie z diagnozą88. Terapia poznawczo-behawioralna (CBT) może pomóc pacjentom z CMT lepiej radzić sobie z codziennym życiem i, w razie potrzeby, z depresją89.
Psychologiczne wsparcie jest ważne dla osób z CMT, ponieważ choroba może wpływać na zdrowie psychiczne i emocjonalne. Pracownicy socjalni mogą pomóc dziecku i rodzinie w radzeniu sobie, relacjach społecznych, zachowaniu i emocjach90. Szpitale i ośrodki lecznicze często oferują wsparcie pracowników socjalnych, którzy mogą pomóc w radzeniu sobie ze stresem związanym z trwającą chorobą91.
Grupy wsparcia mogą być niezwykle pomocne dla pacjentów z CMT i ich rodzin. Stowarzyszenie CMT jest fantastycznym zasobem dla rodzin żyjących z CMT. Za pośrednictwem Stowarzyszenia CMT można uzyskać dostęp do edukacyjnych biuletynów, webinarów i konferencji oraz być na bieżąco z ważnymi aktualizacjami badań. Istnieją również możliwości osobistego połączenia się z innymi rodzinami CMT lokalnie, regionalnie i krajowo92.
Często objawy CMT nie są ciężkie, a wiele terapii może pomóc. Ludzie z CMT mają normalną oczekiwaną długość życia, a większość może chodzić przez całe życie. Grupy wsparcia mogą pomóc tobie i twojemu dziecku – mogą połączyć cię z innymi rodzinami, które radzą sobie z CMT i być na bieżąco z badaniami nad leczeniem93.
Przyszłość leczenia choroby Charcota-Mariego-Tootha
Mimo że obecnie nie ma leku na chorobę Charcota-Mariego-Tootha, naukowcy kontynuują badania nad nowymi terapiami, które mogłyby spowolnić postęp choroby lub złagodzić jej objawy. Stowarzyszenie CMTA aktywnie dąży do opracowania leczenia i leku na wszystkie typy CMT. Od czasu uruchomienia Strategii Przyspieszenia Badań (STAR) w 2008 roku, CMTA współpracuje z wybitnymi badaczami, klinicystami, pacjentami i instytucjami w globalnej społeczności dziedzicznej neuropatii, aby wykorzystać przełomy w genetyce94.
CMTA dokonała bezprecedensowego postępu w kierunku terapii dla praktycznie prawie wszystkich typów CMT. Od początku STAR, CMTA sfinansowała ponad 100 projektów i przeznaczyła ponad 23,5 miliona dolarów na badania. Dzięki wsparciu darczyńców, STAR nadal zyskuje na znaczeniu, a obietnica przełomów jest bliska95.
Niedawne badanie kliniczne wykazało obiecujące wyniki dla nowej opcji leczenia dla osób żyjących z chorobą Charcota-Mariego-Tootha. Terapia obejmuje specjalny rodzaj leku genowego, który wykorzystuje plazmid (mały, kolisty kawałek DNA) do dostarczenia genu, który może pomóc w funkcjonowaniu nerwów i mięśni96.
Badacze opracowali plazmid, który umożliwia produkcję dwóch form białka zwanego czynnikiem wzrostu hepatocytów (HGF), który wykazał wsparcie dla wzrostu nerwów i poprawę przepływu krwi w badaniach. Leczenie było dobrze tolerowane przez większość uczestników i nie wystąpiły poważne skutki uboczne97.
Na podstawie tych zachęcających wyników, rozważane jest większe badanie fazy 2, aby potwierdzić te ustalenia i zbadać, czy leczenie mogłoby przynieść korzyści większej liczbie osób z CMT typu 1A98.
Te wczesne badania pokazują nadzieję na potencjalną nową terapię, która mogłaby poprawić codzienne funkcjonowanie i jakość życia osób żyjących z CMT99.
Zespół badawczy kierowany przez profesora Minseoka Kima z Wydziału Nowej Biologii w DGIST opracował technologię, która może leczyć chorobę Charcota-Mariego-Tootha za pomocą stymulacji elektrycznej zamiast terapii lekowej. Istotą tej technologii jest stymulacja elektryczna, która przywraca nieprawidłową dystrybucję obwodowego białka mielinowego 22 (PMP 22), przyczyny choroby, do normalnego stanu100.
Ta stymulacja elektryczna eliminowała agregację białka PMP22 wokół jądra, która występuje w chorobie CMT1A, i przywracała normalną dystrybucję białka PMP22 w kierunku błony komórkowej, podobną do normalnej komórki Schwanna. Kluczem tego badania jest to, że jest to pierwsza demonstracja, że stymulacja elektryczna może przywrócić normalną dystrybucję PMP22, które jest głównym białkiem w chorobie CMT1A101.
Wraz z postępującymi badaniami i rosnącą świadomością na temat choroby Charcota-Mariego-Tootha, istnieje nadzieja na opracowanie skutecznych metod leczenia, które mogą spowolnić postęp choroby i poprawić jakość życia pacjentów.
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Materiały źródłowe
- #1https://link.springer.com/article/10.1007/s11940-005-0003-5
Charcot-Marie-Tooth (CMT), or heritable peripheral neuropathies, is among the most frequent genetic neuromuscular disorders, with a prevalence of approximately 1:2500. […] However, these advances have not yet resulted in cures for CMT. Recently, potential treatments for the most common form of CMT, CMT-1A, have been shown in rodent models of the disorder. Treatment with onapristone, a progesterone antagonist, has improved the neuropathy of the CMT-1A rat. Treatment with large doses of ascorbic acid (vitamin C) has improved the neuropathy of the CMT-1A mouse. Multicentric trials with ascorbic acid are likely to start in the near future to assess if vitamin C supplementation is effective and what is the dosage required in humans to improve neurologic disability. […] Although no cures are available for CMT, there are many important treatments available for patients with CMT that can improve their quality of life and help them maintain their independence. Some of these therapies involve physiatry and orthopedic surgery. Others involve pain management. Lastly, there are potential concerns about medications or lifestyle issues that may exacerbate CMT. All of these issues will be discussed.
- #2 Charcot-Marie-Tooth disease | Beacon Health Systemhttps://www.beaconhealthsystem.org/library/diseases-and-conditions/charcot-marie-tooth-disease?content_id=CON-20155112
There’s no cure for Charcot-Marie-Tooth disease. But the disease generally progresses slowly, and it doesn’t affect expected life span. […] There are some treatments to help you manage Charcot-Marie-Tooth disease. […] Charcot-Marie-Tooth disease may sometimes cause pain due to muscle cramps or nerve damage. If pain is an issue for you, prescription pain medication may help control your pain. […] Physical therapy can help strengthen and stretch your muscles to prevent muscle tightening and loss. A program usually includes low-impact exercises and stretching techniques guided by a trained physical therapist and approved by your doctor. Started early and followed regularly, physical therapy can help prevent disability. […] Occupational therapy can help through the use of assistive devices, such as special rubber grips on doorknobs, or clothing with snaps instead of buttons.
- #3 Medications and Charcot-Marie-Tooth Disease | CharcotâMarieâTooth Associationhttps://www.cmtausa.org/living-with-cmt/managing-cmt/medications/
There currently are no available treatments that act to slow the progression of Charcot-Marie-Tooth disease. […] However, there are medications that doctors may prescribe to you to help treat the symptoms of CMT rather than the disease itself. […] Medications can play a crucial role in helping you cope with the symptoms and improve your quality of life. […] On this page, you will find information about a variety of medication types that a person with CMT may be prescribed for managing symptoms or comorbid diseases. […] CMT often causes chronic, neuropathic pain that makes day-to-day life with Charcot-Marie-Tooth disease more difficult. If neuropathy is causing pain that diminishes quality of life, then this symptom should be treated. […] The risk is minimal if the drugs are indicated. Some of these agents have been studied as treatments for neuropathic pain and showed no signs of making patients worse.
- #4 Charcot-Marie-Tooth disease | Beacon Health Systemhttps://www.beaconhealthsystem.org/library/diseases-and-conditions/charcot-marie-tooth-disease?content_id=CON-20155112
There’s no cure for Charcot-Marie-Tooth disease. But the disease generally progresses slowly, and it doesn’t affect expected life span. […] There are some treatments to help you manage Charcot-Marie-Tooth disease. […] Charcot-Marie-Tooth disease may sometimes cause pain due to muscle cramps or nerve damage. If pain is an issue for you, prescription pain medication may help control your pain. […] Physical therapy can help strengthen and stretch your muscles to prevent muscle tightening and loss. A program usually includes low-impact exercises and stretching techniques guided by a trained physical therapist and approved by your doctor. Started early and followed regularly, physical therapy can help prevent disability. […] Occupational therapy can help through the use of assistive devices, such as special rubber grips on doorknobs, or clothing with snaps instead of buttons.
- #5 Current Treatment Methods for CharcotâMarieâTooth Diseaseshttps://pmc.ncbi.nlm.nih.gov/articles/PMC11430469/
CharcotMarieTooth (CMT) disease, the most common inherited neuromuscular disorder, exhibits a wide phenotypic range, genetic heterogeneity, and a variable disease course. Currently, there are no approved disease management methods that can fully cure patients with CMT, and rehabilitation, orthotics, and surgery are the only available treatments to ameliorate symptoms. Considerable research attention has been given to disease-modifying therapies, including gene silencing, gene addition, and gene editing, but most treatments that reach clinical trials are drug treatments, while currently, only gene therapies for CMT2S have reached the clinical trial stage. […] Exercise has been identified as an effective treatment strategy for people in the early stages of CMT. To prevent disease progression, rehabilitation interventions including muscle strengthening, stretching, aerobic conditioning, and proprioceptive exercises are recommended.
- #6 Charcot-Marie-Tooth Disease | National Institute of Neurological Disorders and Strokehttps://www.ninds.nih.gov/health-information/disorders/charcot-marie-tooth-disease
There is no cure for CMT. Treatments such as physical therapy, orthopedic devices (such as braces), surgery, and medication prescribed by a doctor can help manage symptoms […] It is important to maintain mobility, flexibility, and muscle strength as much as possible. Starting a treatment program soon after symptoms begin can help people maintain quality of life. Physical and occupational therapy, braces and other orthopedic devices, and orthopedic surgery may help with symptoms of CMT. In addition, doctors may prescribe medication for severe nerve pain. […] High-top shoes or boots can support weak ankles, while thumb splints can help with hand weakness and fine motor skills (using small hand muscles to do things). Using assistive devices like these early on (before disability sets in) may prevent muscle strain and reduce muscle weakening.
- #7 Medical Management – Charcot-Marie-Tooth Disease (CMT) – Diseases | Muscular Dystrophy AssociationMapHeartMapSearchSearchFacebookLinkedInTwitterYouTubeInstagramFacebookLinkedInTwitterYouTubeInstagramhttps://www.mda.org/disease/charcot-marie-tooth/medical-management
Management of CMT is currently supportive; however, such supportive therapy can dramatically improve a patientâs quality of life. Although there is no cure for CMT, there are treatments that can be used to effectively manage its symptoms. These treatments have allowed many people with the disease to lead active, productive lives. The main treatment for CMT involves working with an occupational or physical therapist. Optimal management is multidisciplinary, with care provided by neurologists, genetic counselors, nurses, physical and occupational therapists, physiatrists, and orthopedic surgeons. […] Late in the course of CMT, many people experience weakness in the hands and forearms and have difficulty with gripping and fine finger movements, such as turning doorknobs and buttoning and zippering clothes. Often, these problems can be overcome with occupational therapy, which helps people accomplish tasks of daily living with the use of assistive devices.
- #8 Charcot-Marie-Tooth disease: Management and prognosis – UpToDatehttps://www.uptodate.com/contents/charcot-marie-tooth-disease-management-and-prognosis
Charcot-Marie-Tooth disease (CMT) is a group of hereditary neuropathies characterized by progressive motor and sensory nerve dysfunction, including a characteristic atrophy of calf muscles in several subtypes. CMT is the most common hereditary peripheral neuropathy. It is caused by one of several pathogenic variants in genes whose protein products are expressed in myelin, gap junctions, and/or axonal structures within peripheral nerves. […] Management of CMT is currently supportive; however, such supportive therapy can dramatically improve a patient’s quality of life. Specific disease-modifying therapies are not available. Several agents are under active investigation in clinical trials. Optimal management is multidisciplinary, with care provided by neurologists, genetic counselors, nurses, physical and occupational therapists, physiatrists, and orthopedic surgeons.
- #9 Charcot-Marie-Tooth Disease | National Institute of Neurological Disorders and Strokehttps://www.ninds.nih.gov/health-information/disorders/charcot-marie-tooth-disease
There is no cure for CMT. Treatments such as physical therapy, orthopedic devices (such as braces), surgery, and medication prescribed by a doctor can help manage symptoms […] It is important to maintain mobility, flexibility, and muscle strength as much as possible. Starting a treatment program soon after symptoms begin can help people maintain quality of life. Physical and occupational therapy, braces and other orthopedic devices, and orthopedic surgery may help with symptoms of CMT. In addition, doctors may prescribe medication for severe nerve pain. […] High-top shoes or boots can support weak ankles, while thumb splints can help with hand weakness and fine motor skills (using small hand muscles to do things). Using assistive devices like these early on (before disability sets in) may prevent muscle strain and reduce muscle weakening.
- #10 Medical Management – Charcot-Marie-Tooth Disease (CMT) – Diseases | Muscular Dystrophy AssociationMapHeartMapSearchSearchFacebookLinkedInTwitterYouTubeInstagramFacebookLinkedInTwitterYouTubeInstagramhttps://www.mda.org/disease/charcot-marie-tooth/medical-management
Many people with CMT make their first visit to a neurologist after they notice frequent trips and falls, ankle sprains, or ankle fractures, all caused by foot drop. When these problems occur, some people find they can overcome them by wearing boots or high-top shoes to support the ankles. Others might require leg braces, such as an ankle-foot orthosis (AFO), a removable frame that fits snugly around the foot and ankle. […] One of the most effective ways to keep muscles from tightening up and forming contractures is to begin a regular program of physical therapy, which usually consists of low-impact exercises and stretching. […] Your MDA Care Center can help get you started on an individualized physical therapy program.
- #11 Charcot-Marie-Tooth disease | Beacon Health Systemhttps://www.beaconhealthsystem.org/library/diseases-and-conditions/charcot-marie-tooth-disease?content_id=CON-20155112
There’s no cure for Charcot-Marie-Tooth disease. But the disease generally progresses slowly, and it doesn’t affect expected life span. […] There are some treatments to help you manage Charcot-Marie-Tooth disease. […] Charcot-Marie-Tooth disease may sometimes cause pain due to muscle cramps or nerve damage. If pain is an issue for you, prescription pain medication may help control your pain. […] Physical therapy can help strengthen and stretch your muscles to prevent muscle tightening and loss. A program usually includes low-impact exercises and stretching techniques guided by a trained physical therapist and approved by your doctor. Started early and followed regularly, physical therapy can help prevent disability. […] Occupational therapy can help through the use of assistive devices, such as special rubber grips on doorknobs, or clothing with snaps instead of buttons.
- #12 Charcot-Marie-Tooth Disease | National Institute of Neurological Disorders and Strokehttps://www.ninds.nih.gov/health-information/disorders/charcot-marie-tooth-disease
There is no cure for CMT. Treatments such as physical therapy, orthopedic devices (such as braces), surgery, and medication prescribed by a doctor can help manage symptoms […] It is important to maintain mobility, flexibility, and muscle strength as much as possible. Starting a treatment program soon after symptoms begin can help people maintain quality of life. Physical and occupational therapy, braces and other orthopedic devices, and orthopedic surgery may help with symptoms of CMT. In addition, doctors may prescribe medication for severe nerve pain. […] High-top shoes or boots can support weak ankles, while thumb splints can help with hand weakness and fine motor skills (using small hand muscles to do things). Using assistive devices like these early on (before disability sets in) may prevent muscle strain and reduce muscle weakening.
- #13 Current Treatment Methods for CharcotâMarieâTooth Diseaseshttps://pmc.ncbi.nlm.nih.gov/articles/PMC11430469/
CharcotMarieTooth (CMT) disease, the most common inherited neuromuscular disorder, exhibits a wide phenotypic range, genetic heterogeneity, and a variable disease course. Currently, there are no approved disease management methods that can fully cure patients with CMT, and rehabilitation, orthotics, and surgery are the only available treatments to ameliorate symptoms. Considerable research attention has been given to disease-modifying therapies, including gene silencing, gene addition, and gene editing, but most treatments that reach clinical trials are drug treatments, while currently, only gene therapies for CMT2S have reached the clinical trial stage. […] Exercise has been identified as an effective treatment strategy for people in the early stages of CMT. To prevent disease progression, rehabilitation interventions including muscle strengthening, stretching, aerobic conditioning, and proprioceptive exercises are recommended.
- #14 Current Treatment Methods for CharcotâMarieâTooth Diseaseshttps://pmc.ncbi.nlm.nih.gov/articles/PMC11430469/
CharcotMarieTooth (CMT) disease, the most common inherited neuromuscular disorder, exhibits a wide phenotypic range, genetic heterogeneity, and a variable disease course. Currently, there are no approved disease management methods that can fully cure patients with CMT, and rehabilitation, orthotics, and surgery are the only available treatments to ameliorate symptoms. Considerable research attention has been given to disease-modifying therapies, including gene silencing, gene addition, and gene editing, but most treatments that reach clinical trials are drug treatments, while currently, only gene therapies for CMT2S have reached the clinical trial stage. […] Exercise has been identified as an effective treatment strategy for people in the early stages of CMT. To prevent disease progression, rehabilitation interventions including muscle strengthening, stretching, aerobic conditioning, and proprioceptive exercises are recommended.
- #15 Current Treatment Methods for CharcotâMarieâTooth Diseaseshttps://www.mdpi.com/2218-273X/14/9/1138
CharcotâMarieâTooth (CMT) disease, the most common inherited neuromuscular disorder, exhibits a wide phenotypic range, genetic heterogeneity, and a variable disease course. […] Currently, there are no approved disease management methods that can fully cure patients with CMT, and rehabilitation, orthotics, and surgery are the only available treatments to ameliorate symptoms. […] Considerable research attention has been given to disease-modifying therapies, including gene silencing, gene addition, and gene editing, but most treatments that reach clinical trials are drug treatments, while currently, only gene therapies for CMT2S have reached the clinical trial stage. […] Exercise has been identified as an effective treatment strategy for people in the early stages of CMT. […] To prevent disease progression, rehabilitation interventions including muscle strengthening, stretching, aerobic conditioning, and proprioceptive exercises are recommended.
- #16 Charcot-Marie-Tooth disease: Management and prognosis – UpToDatehttps://www.uptodate.com/contents/charcot-marie-tooth-disease-management-and-prognosis
A comprehensive rehabilitation program plays a crucial role in the management of individuals affected by CMT. All patients should be evaluated for weakness (both distal and proximal), joint contractures, physical conditioning, ambulation, balance, coordination, and manual dexterity. A major goal is the prevention of complications such as joint deformity and falls. Daily stretching exercises early in the course of the disease may help delay ankle contractures. Moderate quality evidence suggests progressive resistance exercise programs may improve functional outcomes. Occupational therapy can help to improve function with activities of daily living. An intensive rehabilitation regimen demonstrated benefit in one study, but the therapeutic effects attenuated after cessation of the program. […] Orthotics, including ankle-foot orthoses, are often used to help stabilize the ankles and enhance gait function. Tolerability and response to orthotics should be monitored to optimize compliance. Orthopedic foot surgery may be beneficial for severe manifestations of contractures, pes cavus deformity, and hammer toes, typically during adolescence or early adulthood.
- #17 Charcot-Marie-Tooth disease: Management and prognosis – UpToDatehttps://www.uptodate.com/contents/charcot-marie-tooth-disease-management-and-prognosis
A comprehensive rehabilitation program plays a crucial role in the management of individuals affected by CMT. All patients should be evaluated for weakness (both distal and proximal), joint contractures, physical conditioning, ambulation, balance, coordination, and manual dexterity. A major goal is the prevention of complications such as joint deformity and falls. Daily stretching exercises early in the course of the disease may help delay ankle contractures. Moderate quality evidence suggests progressive resistance exercise programs may improve functional outcomes. Occupational therapy can help to improve function with activities of daily living. An intensive rehabilitation regimen demonstrated benefit in one study, but the therapeutic effects attenuated after cessation of the program. […] Orthotics, including ankle-foot orthoses, are often used to help stabilize the ankles and enhance gait function. Tolerability and response to orthotics should be monitored to optimize compliance. Orthopedic foot surgery may be beneficial for severe manifestations of contractures, pes cavus deformity, and hammer toes, typically during adolescence or early adulthood.
- #18 First effective treatment of children with Charcot-Marie-Tooth disease – The University of Sydneyhttps://www.sydney.edu.au/news-opinion/news/2017/07/17/first-effective-treatment-of-children-with-charcot-marie-tooth-d.html
Exercise is the best medicine for Charcot-Marie-Tooth disease. […] A new research study from the University of Sydney has found that for children with Charcot-Marie-Tooth disease, the most effective way to treat their condition is with exercise. […] The study found that progressive resistance exercise could help to significantly reduce the muscle weakness experienced by patients with the genetic disease. […] Published in The Lancet Child Adolescent Health, the study showed that six months of moderate-intensity progressive resistance exercise could help not only slow the progression of muscle weakness by up to 30 per cent compared to CMT patients who did not exercise, but also strengthened their muscles over a two-year period. […] For patients with CMT, the results of this trial are life-changing, helping to not only improve their chronic pain and reduce the degree of disability, but also greatly helping to improve their quality of life. […] Exercise is an important bridging therapy for children and adults in the meantime. […] However, given the trials success, similar targeted exercises can now also be applied to other affected muscles in the body in a safe and effective way.
- #19 Charcot-Marie-Tooth disease (CMT) – Muscular Dystrophy UKhttps://www.musculardystrophyuk.org/conditions/a-z/charcot-marie-tooth-disease-cmt/
A multi-disciplinary approach, which involves different healthcare professionals working together, is important in not only managing the condition and symptoms but in improving wellbeing too. […] People with CMT should have access to a multi-disciplinary healthcare team, usually led by a neurologist. If you’re not in contact with a neurologist, speak to your GP about getting access to one. […] Mild exercise can help improve balance and maintain strength, and stretching can improve flexibility. A physiotherapist, a healthcare professional who helps manage symptoms through movement, exercise, and manual therapy, can put together a suitable exercise plan. Regular heel-stretching exercises are recommended to prevent muscle tightening and shortening. Low-impact aerobic exercises, such as swimming and walking, are recommended for all neuromuscular conditions.
- #20 Charcot-Marie-Tooth disease | Beacon Health Systemhttps://www.beaconhealthsystem.org/library/diseases-and-conditions/charcot-marie-tooth-disease?content_id=CON-20155112
There’s no cure for Charcot-Marie-Tooth disease. But the disease generally progresses slowly, and it doesn’t affect expected life span. […] There are some treatments to help you manage Charcot-Marie-Tooth disease. […] Charcot-Marie-Tooth disease may sometimes cause pain due to muscle cramps or nerve damage. If pain is an issue for you, prescription pain medication may help control your pain. […] Physical therapy can help strengthen and stretch your muscles to prevent muscle tightening and loss. A program usually includes low-impact exercises and stretching techniques guided by a trained physical therapist and approved by your doctor. Started early and followed regularly, physical therapy can help prevent disability. […] Occupational therapy can help through the use of assistive devices, such as special rubber grips on doorknobs, or clothing with snaps instead of buttons.
- #21 Charcot-Marie-Tooth disease | Beacon Health Systemhttps://www.beaconhealthsystem.org/library/diseases-and-conditions/charcot-marie-tooth-disease?content_id=CON-20155112
There’s no cure for Charcot-Marie-Tooth disease. But the disease generally progresses slowly, and it doesn’t affect expected life span. […] There are some treatments to help you manage Charcot-Marie-Tooth disease. […] Charcot-Marie-Tooth disease may sometimes cause pain due to muscle cramps or nerve damage. If pain is an issue for you, prescription pain medication may help control your pain. […] Physical therapy can help strengthen and stretch your muscles to prevent muscle tightening and loss. A program usually includes low-impact exercises and stretching techniques guided by a trained physical therapist and approved by your doctor. Started early and followed regularly, physical therapy can help prevent disability. […] Occupational therapy can help through the use of assistive devices, such as special rubber grips on doorknobs, or clothing with snaps instead of buttons.
- #22 Medical Management – Charcot-Marie-Tooth Disease (CMT) – Diseases | Muscular Dystrophy AssociationMapHeartMapSearchSearchFacebookLinkedInTwitterYouTubeInstagramFacebookLinkedInTwitterYouTubeInstagramhttps://www.mda.org/disease/charcot-marie-tooth/medical-management
Management of CMT is currently supportive; however, such supportive therapy can dramatically improve a patientâs quality of life. Although there is no cure for CMT, there are treatments that can be used to effectively manage its symptoms. These treatments have allowed many people with the disease to lead active, productive lives. The main treatment for CMT involves working with an occupational or physical therapist. Optimal management is multidisciplinary, with care provided by neurologists, genetic counselors, nurses, physical and occupational therapists, physiatrists, and orthopedic surgeons. […] Late in the course of CMT, many people experience weakness in the hands and forearms and have difficulty with gripping and fine finger movements, such as turning doorknobs and buttoning and zippering clothes. Often, these problems can be overcome with occupational therapy, which helps people accomplish tasks of daily living with the use of assistive devices.
- #23 Charcot-Marie-Tooth disease | Beacon Health Systemhttps://www.beaconhealthsystem.org/library/diseases-and-conditions/charcot-marie-tooth-disease?content_id=CON-20155112
There’s no cure for Charcot-Marie-Tooth disease. But the disease generally progresses slowly, and it doesn’t affect expected life span. […] There are some treatments to help you manage Charcot-Marie-Tooth disease. […] Charcot-Marie-Tooth disease may sometimes cause pain due to muscle cramps or nerve damage. If pain is an issue for you, prescription pain medication may help control your pain. […] Physical therapy can help strengthen and stretch your muscles to prevent muscle tightening and loss. A program usually includes low-impact exercises and stretching techniques guided by a trained physical therapist and approved by your doctor. Started early and followed regularly, physical therapy can help prevent disability. […] Occupational therapy can help through the use of assistive devices, such as special rubber grips on doorknobs, or clothing with snaps instead of buttons.
- #24 Charcot-Marie-Tooth disease | Beacon Health Systemhttps://www.beaconhealthsystem.org/library/diseases-and-conditions/charcot-marie-tooth-disease?content_id=CON-20155112
There’s no cure for Charcot-Marie-Tooth disease. But the disease generally progresses slowly, and it doesn’t affect expected life span. […] There are some treatments to help you manage Charcot-Marie-Tooth disease. […] Charcot-Marie-Tooth disease may sometimes cause pain due to muscle cramps or nerve damage. If pain is an issue for you, prescription pain medication may help control your pain. […] Physical therapy can help strengthen and stretch your muscles to prevent muscle tightening and loss. A program usually includes low-impact exercises and stretching techniques guided by a trained physical therapist and approved by your doctor. Started early and followed regularly, physical therapy can help prevent disability. […] Occupational therapy can help through the use of assistive devices, such as special rubber grips on doorknobs, or clothing with snaps instead of buttons.
- #25 Charcot-Marie-Tooth Disease | Saint Luke’s Health Systemhttps://www.saintlukeskc.org/health-library/charcot-marie-tooth-disease
How is Charcot-Marie-Tooth disease treated? There is no cure for CMT. But these treatments can help: […] Physical therapy to strengthen and stretch your muscles. This may help prevent or delay disability caused by weakness and deformity. […] Occupational therapy to help with your daily activities. This includes using special devices like rubber grips, or changing from buttons and zippers to Velcro. […] Orthopedic devices, such as ankle braces, high-top boots, and thumb splints. […] Pain medicines if needed. […] Surgery for severe deformities of the feet, spine, or other joints. […] Charcot-Marie-Tooth can’t be cured at this time. But treatments, such as physical and occupational therapy, can often be very helpful. Most people with this condition live to a normal age and remain active.
- #26 Effective Charcot Marie Tooth Disease Treatmenthttps://drchandrilchugh.com/charcot-marie-tooth-disease/effective-charcot-marie-tooth-disease-treatments/
Physical and occupational therapy play a crucial role in the comprehensive treatment plan for individuals with Charcot Marie Tooth Disease. These therapies focus on improving mobility, preventing disability, and enhancing overall quality of life. Through targeted exercises, muscle strengthening, and adaptive techniques, physical and occupational therapy can help individuals with CMT manage their symptoms effectively. […] Occupational therapy focuses on helping individuals overcome challenges with everyday tasks and activities. It aims to improve independence and quality of life by teaching adaptive techniques and providing assistive devices if necessary. […] In addition to current therapy options, ongoing research offers hope for potential future treatments for Charcot Marie Tooth Disease.
- #27https://journals.lww.com/md-journal/fulltext/2016/04260/rehabilitation_management_of_the.5.aspx
The evidence provided concerned 2 aspects of CMT rehabilitation: physiotherapy and orthotic treatment. […] The results show that splinting significantly increases functionality in daily activities as well as occupational performance. […] Orthosis role in CMT management has to be further studied: isolated data showed it as associated with a significant improvement of the ROM in the ankle dorsiflexion, thus allowing a better walking kinematic. These conclusions, however, cannot be considered evidence based. Also hand orthosis must be studied and tested more in depth, as just 1 RCT showed its benefits.
- #28 Charcot-Marie-Tooth Disease – OrthoInfo – AAOShttps://orthoinfo.aaos.org/en/diseases–conditions/charcot-marie-tooth-disease/
Assistive devices. Braces, such as ankle-foot orthoses (AFOs), can support the feet in proper position and address gait problems, such as foot drop. Custom-made shoes and shoe inserts can help to fit high arches or hammertoes. […] Occupational therapy. Over time, people with CMT may develop hand and arm weakness. Typical daily activities, such as fastening buttons or writing, can become difficult. An occupational therapist can: Provide a program to help you or your child maintain fine finger movements, Offer assistive tools to help you or your child accomplish daily activities. […] Foot care. Sensory loss in the feet can allow small blisters or sores to progress to a serious infection in a short time. Inspect your or your child’s feet daily for any problems. Choose well-fitting shoes. See a podiatrist to remove calluses that may develop due to foot deformities.
- #29 Charcot-Marie-Tooth Disease | Conditions | UCSF Benioff Children’s Hospitalshttps://www.ucsfbenioffchildrens.org/conditions/charcot-marie-tooth-disease
Although there is currently no cure for CMT, there are treatments available to help manage its complications and improve patients’ quality of life. Therapies may include physical therapy, occupational therapy, braces and other mobility devices, as well as orthopedic surgery. […] Physical and occupational therapy is an essential part of CMT therapy. This may involve muscle strength and stamina training, muscle and ligament stretching and moderate aerobic exercise. The goal is to preserve function and maintain comfort. […] Mobility devices may increase a person’s ability to move, provide support and decrease the risk of injuries. Many people with CMT develop foot deformities that may be corrected with braces. […] If a foot deformity prevents the foot from being manipulated into proper alignment with a brace, surgery may help. The goal of surgery is to help the foot and leg function as normally as possible, so the patient can walk with minimal difficulty.
- #30 Charcot-Marie-Tooth disease | Beacon Health Systemhttps://www.beaconhealthsystem.org/library/diseases-and-conditions/charcot-marie-tooth-disease?content_id=CON-20155112
Many people with Charcot-Marie-Tooth disease require the help of certain orthopedic devices to maintain everyday mobility and to prevent injury. Leg and ankle braces or splints can provide stability while walking and climbing stairs. […] If foot deformities are severe, corrective foot surgery may help alleviate pain and improve your ability to walk. Surgery can’t improve weakness or loss of sensation. […] Researchers are investigating a number of potential therapies that may one day treat Charcot-Marie-Tooth disease. Potential therapies include medications, gene therapy and in vitro procedures that may help prevent passing the disease to future generations.
- #31 Charcot-Marie-Tooth Disease | National Institute of Neurological Disorders and Strokehttps://www.ninds.nih.gov/health-information/disorders/charcot-marie-tooth-disease
There is no cure for CMT. Treatments such as physical therapy, orthopedic devices (such as braces), surgery, and medication prescribed by a doctor can help manage symptoms […] It is important to maintain mobility, flexibility, and muscle strength as much as possible. Starting a treatment program soon after symptoms begin can help people maintain quality of life. Physical and occupational therapy, braces and other orthopedic devices, and orthopedic surgery may help with symptoms of CMT. In addition, doctors may prescribe medication for severe nerve pain. […] High-top shoes or boots can support weak ankles, while thumb splints can help with hand weakness and fine motor skills (using small hand muscles to do things). Using assistive devices like these early on (before disability sets in) may prevent muscle strain and reduce muscle weakening.
- #32 Charcot-Marie-Tooth Disease | National Institute of Neurological Disorders and Strokehttps://www.ninds.nih.gov/health-information/disorders/charcot-marie-tooth-disease
There is no cure for CMT. Treatments such as physical therapy, orthopedic devices (such as braces), surgery, and medication prescribed by a doctor can help manage symptoms […] It is important to maintain mobility, flexibility, and muscle strength as much as possible. Starting a treatment program soon after symptoms begin can help people maintain quality of life. Physical and occupational therapy, braces and other orthopedic devices, and orthopedic surgery may help with symptoms of CMT. In addition, doctors may prescribe medication for severe nerve pain. […] High-top shoes or boots can support weak ankles, while thumb splints can help with hand weakness and fine motor skills (using small hand muscles to do things). Using assistive devices like these early on (before disability sets in) may prevent muscle strain and reduce muscle weakening.
- #33 Current Treatment Methods for CharcotâMarieâTooth Diseaseshttps://pmc.ncbi.nlm.nih.gov/articles/PMC11430469/
Orthoses is another CMT management method that complements rehabilitative approaches and plays an important role in improving balance, gait, and the ability to perform the activities of daily life. […] As physiotherapy, proper foot care, and surgery are not enough to ameliorate CMT-related symptoms, additional symptomatological drugs are used. […] Drug treatment for CMT primarily focuses on symptom relief, whereas gene therapy aims to ameliorate or potentially cure symptoms of CMT with minimal adverse events by transferring genetic material into the cells of the patients. […] Gene therapy is the treatment of a disease through transferring genetic material into cells of the patients. Gene addition and gene replacement are important methods for gene therapies. […] Current gene editing technology is laying the foundation for the formulation of future disease therapies.
- #34 Current Treatment Methods for CharcotâMarieâTooth Diseaseshttps://www.mdpi.com/2218-273X/14/9/1138
Orthoses is another CMT management method that complements rehabilitative approaches and plays an important role in improving balance, gait, and the ability to perform the activities of daily life. […] As the disease progresses, orthotic foot wear may be required to slow down the development of deformities, supporting against foot drop, stabilizing gait, and reducing pain or sores. […] Over time, the deformities of CMT patients tend to progress in severity. […] In the early stages of the condition, flexible deformities including equines, cavus, or forefoot valgus and hindfoot varus can be corrected by joint-sparing osteotomies, soft-tissue release, and tendon transfers, with elaborate preoperative evaluation and individualized plans. […] As physiotherapy, proper foot care, and surgery are not enough to ameliorate CMT-related symptoms, additional symptomatological drugs are used.
- #35 Current Treatment Methods for CharcotâMarieâTooth Diseaseshttps://www.mdpi.com/2218-273X/14/9/1138
Orthoses is another CMT management method that complements rehabilitative approaches and plays an important role in improving balance, gait, and the ability to perform the activities of daily life. […] As the disease progresses, orthotic foot wear may be required to slow down the development of deformities, supporting against foot drop, stabilizing gait, and reducing pain or sores. […] Over time, the deformities of CMT patients tend to progress in severity. […] In the early stages of the condition, flexible deformities including equines, cavus, or forefoot valgus and hindfoot varus can be corrected by joint-sparing osteotomies, soft-tissue release, and tendon transfers, with elaborate preoperative evaluation and individualized plans. […] As physiotherapy, proper foot care, and surgery are not enough to ameliorate CMT-related symptoms, additional symptomatological drugs are used.
- #36 Charcot-Marie-Tooth disease | Beacon Health Systemhttps://www.beaconhealthsystem.org/library/diseases-and-conditions/charcot-marie-tooth-disease?content_id=CON-20155112
Many people with Charcot-Marie-Tooth disease require the help of certain orthopedic devices to maintain everyday mobility and to prevent injury. Leg and ankle braces or splints can provide stability while walking and climbing stairs. […] If foot deformities are severe, corrective foot surgery may help alleviate pain and improve your ability to walk. Surgery can’t improve weakness or loss of sensation. […] Researchers are investigating a number of potential therapies that may one day treat Charcot-Marie-Tooth disease. Potential therapies include medications, gene therapy and in vitro procedures that may help prevent passing the disease to future generations.
- #37 Medical Management – Charcot-Marie-Tooth Disease (CMT) – Diseases | Muscular Dystrophy AssociationMapHeartMapSearchSearchFacebookLinkedInTwitterYouTubeInstagramFacebookLinkedInTwitterYouTubeInstagramhttps://www.mda.org/disease/charcot-marie-tooth/medical-management
Many people with CMT make their first visit to a neurologist after they notice frequent trips and falls, ankle sprains, or ankle fractures, all caused by foot drop. When these problems occur, some people find they can overcome them by wearing boots or high-top shoes to support the ankles. Others might require leg braces, such as an ankle-foot orthosis (AFO), a removable frame that fits snugly around the foot and ankle. […] One of the most effective ways to keep muscles from tightening up and forming contractures is to begin a regular program of physical therapy, which usually consists of low-impact exercises and stretching. […] Your MDA Care Center can help get you started on an individualized physical therapy program.
- #38 Medical Management – Charcot-Marie-Tooth Disease (CMT) – Diseases | Muscular Dystrophy AssociationMapHeartMapSearchSearchFacebookLinkedInTwitterYouTubeInstagramFacebookLinkedInTwitterYouTubeInstagramhttps://www.mda.org/disease/charcot-marie-tooth/medical-management
Many people with CMT make their first visit to a neurologist after they notice frequent trips and falls, ankle sprains, or ankle fractures, all caused by foot drop. When these problems occur, some people find they can overcome them by wearing boots or high-top shoes to support the ankles. Others might require leg braces, such as an ankle-foot orthosis (AFO), a removable frame that fits snugly around the foot and ankle. […] One of the most effective ways to keep muscles from tightening up and forming contractures is to begin a regular program of physical therapy, which usually consists of low-impact exercises and stretching. […] Your MDA Care Center can help get you started on an individualized physical therapy program.
- #39https://journals.lww.com/md-journal/fulltext/2016/04260/rehabilitation_management_of_the.5.aspx
The evidence provided concerned 2 aspects of CMT rehabilitation: physiotherapy and orthotic treatment. […] The results show that splinting significantly increases functionality in daily activities as well as occupational performance. […] Orthosis role in CMT management has to be further studied: isolated data showed it as associated with a significant improvement of the ROM in the ankle dorsiflexion, thus allowing a better walking kinematic. These conclusions, however, cannot be considered evidence based. Also hand orthosis must be studied and tested more in depth, as just 1 RCT showed its benefits.
- #40https://journals.lww.com/md-journal/fulltext/2016/04260/rehabilitation_management_of_the.5.aspx
The evidence provided concerned 2 aspects of CMT rehabilitation: physiotherapy and orthotic treatment. […] The results show that splinting significantly increases functionality in daily activities as well as occupational performance. […] Orthosis role in CMT management has to be further studied: isolated data showed it as associated with a significant improvement of the ROM in the ankle dorsiflexion, thus allowing a better walking kinematic. These conclusions, however, cannot be considered evidence based. Also hand orthosis must be studied and tested more in depth, as just 1 RCT showed its benefits.
- #41 Charcot-Marie-Tooth disease | healthdirecthttps://www.healthdirect.gov.au/charcot-marie-tooth-disease
Both bracing and orthopaedic surgery on your feet can improve your mobility and independence. […] People of all ages with CMT should be assessed for appropriate bracing. Bracing can improve your quality of life. Good bracing can also delay or remove the need for orthopaedic surgery. […] You may need orthopaedic (bone) surgery at some point. This may be: to correct foot difference associated with CMT for complications, such as a knee or hip replacement due to osteoarthritis.
- #42 Medications and Charcot-Marie-Tooth Disease | CharcotâMarieâTooth Associationhttps://www.cmtausa.org/living-with-cmt/managing-cmt/medications/
There currently are no available treatments that act to slow the progression of Charcot-Marie-Tooth disease. […] However, there are medications that doctors may prescribe to you to help treat the symptoms of CMT rather than the disease itself. […] Medications can play a crucial role in helping you cope with the symptoms and improve your quality of life. […] On this page, you will find information about a variety of medication types that a person with CMT may be prescribed for managing symptoms or comorbid diseases. […] CMT often causes chronic, neuropathic pain that makes day-to-day life with Charcot-Marie-Tooth disease more difficult. If neuropathy is causing pain that diminishes quality of life, then this symptom should be treated. […] The risk is minimal if the drugs are indicated. Some of these agents have been studied as treatments for neuropathic pain and showed no signs of making patients worse.
- #43 Medications and Charcot-Marie-Tooth Disease | CharcotâMarieâTooth Associationhttps://www.cmtausa.org/living-with-cmt/managing-cmt/medications/
There currently are no available treatments that act to slow the progression of Charcot-Marie-Tooth disease. […] However, there are medications that doctors may prescribe to you to help treat the symptoms of CMT rather than the disease itself. […] Medications can play a crucial role in helping you cope with the symptoms and improve your quality of life. […] On this page, you will find information about a variety of medication types that a person with CMT may be prescribed for managing symptoms or comorbid diseases. […] CMT often causes chronic, neuropathic pain that makes day-to-day life with Charcot-Marie-Tooth disease more difficult. If neuropathy is causing pain that diminishes quality of life, then this symptom should be treated. […] The risk is minimal if the drugs are indicated. Some of these agents have been studied as treatments for neuropathic pain and showed no signs of making patients worse.
- #44 Medications and Charcot-Marie-Tooth Disease | CharcotâMarieâTooth Associationhttps://www.cmtausa.org/living-with-cmt/managing-cmt/medications/
There currently are no available treatments that act to slow the progression of Charcot-Marie-Tooth disease. […] However, there are medications that doctors may prescribe to you to help treat the symptoms of CMT rather than the disease itself. […] Medications can play a crucial role in helping you cope with the symptoms and improve your quality of life. […] On this page, you will find information about a variety of medication types that a person with CMT may be prescribed for managing symptoms or comorbid diseases. […] CMT often causes chronic, neuropathic pain that makes day-to-day life with Charcot-Marie-Tooth disease more difficult. If neuropathy is causing pain that diminishes quality of life, then this symptom should be treated. […] The risk is minimal if the drugs are indicated. Some of these agents have been studied as treatments for neuropathic pain and showed no signs of making patients worse.
- #45 Medications and Charcot-Marie-Tooth Disease | CharcotâMarieâTooth Associationhttps://www.cmtausa.org/living-with-cmt/managing-cmt/medications/
There currently are no available treatments that act to slow the progression of Charcot-Marie-Tooth disease. […] However, there are medications that doctors may prescribe to you to help treat the symptoms of CMT rather than the disease itself. […] Medications can play a crucial role in helping you cope with the symptoms and improve your quality of life. […] On this page, you will find information about a variety of medication types that a person with CMT may be prescribed for managing symptoms or comorbid diseases. […] CMT often causes chronic, neuropathic pain that makes day-to-day life with Charcot-Marie-Tooth disease more difficult. If neuropathy is causing pain that diminishes quality of life, then this symptom should be treated. […] The risk is minimal if the drugs are indicated. Some of these agents have been studied as treatments for neuropathic pain and showed no signs of making patients worse.
- #46 Charcot-Marie-Tooth disease | Beacon Health Systemhttps://www.beaconhealthsystem.org/library/diseases-and-conditions/charcot-marie-tooth-disease?content_id=CON-20155112
There’s no cure for Charcot-Marie-Tooth disease. But the disease generally progresses slowly, and it doesn’t affect expected life span. […] There are some treatments to help you manage Charcot-Marie-Tooth disease. […] Charcot-Marie-Tooth disease may sometimes cause pain due to muscle cramps or nerve damage. If pain is an issue for you, prescription pain medication may help control your pain. […] Physical therapy can help strengthen and stretch your muscles to prevent muscle tightening and loss. A program usually includes low-impact exercises and stretching techniques guided by a trained physical therapist and approved by your doctor. Started early and followed regularly, physical therapy can help prevent disability. […] Occupational therapy can help through the use of assistive devices, such as special rubber grips on doorknobs, or clothing with snaps instead of buttons.
- #47 Medications and Charcot-Marie-Tooth Disease | CharcotâMarieâTooth Associationhttps://www.cmtausa.org/living-with-cmt/managing-cmt/medications/
Cymbalta (duloxetine) is one of the few medications that went through the lengthy process to receive FDA approval for neuropathic pain, specifically for diabetic neuropathy, but is generally used for any type of neuropathy-associated pain. […] Venlafaxine (Effexor) is a popular and widely used antidepressant that is also used to treat neuropathic pain, especially well studied in patients with diabetic neuropathy, although the drug has no current specific FDA indication for this use. […] According to our CMT experts, Botox is not recommended for individuals with CMT but can be used in areas that are not directly affected by CMT (the face, for example). […] There is no listed contraindication to the use of alendronate (Fosamax) in patients with CMT. […] Muscle relaxers like Soma should not affect your nerves or strength, but may cause sedation or sleepiness.
- #48 Medications and Charcot-Marie-Tooth Disease | CharcotâMarieâTooth Associationhttps://www.cmtausa.org/living-with-cmt/managing-cmt/medications/
Cymbalta (duloxetine) is one of the few medications that went through the lengthy process to receive FDA approval for neuropathic pain, specifically for diabetic neuropathy, but is generally used for any type of neuropathy-associated pain. […] Venlafaxine (Effexor) is a popular and widely used antidepressant that is also used to treat neuropathic pain, especially well studied in patients with diabetic neuropathy, although the drug has no current specific FDA indication for this use. […] According to our CMT experts, Botox is not recommended for individuals with CMT but can be used in areas that are not directly affected by CMT (the face, for example). […] There is no listed contraindication to the use of alendronate (Fosamax) in patients with CMT. […] Muscle relaxers like Soma should not affect your nerves or strength, but may cause sedation or sleepiness.
- #49 Charcot-Marie-Tooth (CMT): Symptoms, causes, types, and treatmenthttps://www.medicalnewstoday.com/articles/172056
There is no cure for CMT, but treatment may relieve symptoms and delay the start of physical disabilities. […] Non-steroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen, can help reduce joint and muscle pain and pain caused by damaged nerves. […] Tricyclic antidepressants (TCAs) may be prescribed if NSAIDs are not effective. TCAs are normally used to treat depression, but they may relieve neuropathic pain. However, they may have side effects. […] Physical therapy uses low-impact exercises to help strengthen and stretch the muscles. This can help to maintain muscle strength for longer and prevent muscle tightening. […] Occupational therapy may help patients who have problems with finger movements and gripping, because this can make it very hard to carry out daily activities.
- #50 Medications and Charcot-Marie-Tooth Disease | CharcotâMarieâTooth Associationhttps://www.cmtausa.org/living-with-cmt/managing-cmt/medications/
Cymbalta (duloxetine) is one of the few medications that went through the lengthy process to receive FDA approval for neuropathic pain, specifically for diabetic neuropathy, but is generally used for any type of neuropathy-associated pain. […] Venlafaxine (Effexor) is a popular and widely used antidepressant that is also used to treat neuropathic pain, especially well studied in patients with diabetic neuropathy, although the drug has no current specific FDA indication for this use. […] According to our CMT experts, Botox is not recommended for individuals with CMT but can be used in areas that are not directly affected by CMT (the face, for example). […] There is no listed contraindication to the use of alendronate (Fosamax) in patients with CMT. […] Muscle relaxers like Soma should not affect your nerves or strength, but may cause sedation or sleepiness.
- #51 Medications and Charcot-Marie-Tooth Disease | CharcotâMarieâTooth Associationhttps://www.cmtausa.org/living-with-cmt/managing-cmt/medications/
Cymbalta (duloxetine) is one of the few medications that went through the lengthy process to receive FDA approval for neuropathic pain, specifically for diabetic neuropathy, but is generally used for any type of neuropathy-associated pain. […] Venlafaxine (Effexor) is a popular and widely used antidepressant that is also used to treat neuropathic pain, especially well studied in patients with diabetic neuropathy, although the drug has no current specific FDA indication for this use. […] According to our CMT experts, Botox is not recommended for individuals with CMT but can be used in areas that are not directly affected by CMT (the face, for example). […] There is no listed contraindication to the use of alendronate (Fosamax) in patients with CMT. […] Muscle relaxers like Soma should not affect your nerves or strength, but may cause sedation or sleepiness.
- #52 Medications and Charcot-Marie-Tooth Disease | CharcotâMarieâTooth Associationhttps://www.cmtausa.org/living-with-cmt/managing-cmt/medications/
We know of no evidence linking their use to worsening or causing neuropathy, abnormal muscle cramps or muscle spasm. […] There are no reported contraindications for persons with peripheral neuropathies taking these over-the-counter drugs: tylenol, aspirin, and Advil. […] The statin drugs are safe for most patients with CMT. There is no evidence that one statin is any better or worse as a risk factor for neuropathy.
- #53 Medications and Charcot-Marie-Tooth Disease | CharcotâMarieâTooth Associationhttps://www.cmtausa.org/living-with-cmt/managing-cmt/medications/
We know of no evidence linking their use to worsening or causing neuropathy, abnormal muscle cramps or muscle spasm. […] There are no reported contraindications for persons with peripheral neuropathies taking these over-the-counter drugs: tylenol, aspirin, and Advil. […] The statin drugs are safe for most patients with CMT. There is no evidence that one statin is any better or worse as a risk factor for neuropathy.
- #54 Charcot-Marie-Tooth disease | Beacon Health Systemhttps://www.beaconhealthsystem.org/library/diseases-and-conditions/charcot-marie-tooth-disease?content_id=CON-20155112
Many people with Charcot-Marie-Tooth disease require the help of certain orthopedic devices to maintain everyday mobility and to prevent injury. Leg and ankle braces or splints can provide stability while walking and climbing stairs. […] If foot deformities are severe, corrective foot surgery may help alleviate pain and improve your ability to walk. Surgery can’t improve weakness or loss of sensation. […] Researchers are investigating a number of potential therapies that may one day treat Charcot-Marie-Tooth disease. Potential therapies include medications, gene therapy and in vitro procedures that may help prevent passing the disease to future generations.
- #55 Current Treatment Methods for CharcotâMarieâTooth Diseaseshttps://www.mdpi.com/2218-273X/14/9/1138
Orthoses is another CMT management method that complements rehabilitative approaches and plays an important role in improving balance, gait, and the ability to perform the activities of daily life. […] As the disease progresses, orthotic foot wear may be required to slow down the development of deformities, supporting against foot drop, stabilizing gait, and reducing pain or sores. […] Over time, the deformities of CMT patients tend to progress in severity. […] In the early stages of the condition, flexible deformities including equines, cavus, or forefoot valgus and hindfoot varus can be corrected by joint-sparing osteotomies, soft-tissue release, and tendon transfers, with elaborate preoperative evaluation and individualized plans. […] As physiotherapy, proper foot care, and surgery are not enough to ameliorate CMT-related symptoms, additional symptomatological drugs are used.
- #56 Charcot-Marie-Tooth Disease Causes, Symptoms, Treatment | HSShttps://www.hss.edu/condition-list_charcot-marie-tooth-disease.asp
How is Charcot-Marie-Tooth disease treated? Charcot-Marie-Tooth disease is initially treated with physical therapy, daily stretching, and braces. These primary treatments help with maintenance of balance and stability with ambulation. Currently, clinical trials are being conducted for medical and gene therapies. Surgery is performed to correct deformities and rebalance muscles to optimize mobility and gait efficiency. […] The goal of surgery for Charcot-Marie-Tooth disease is to help preserve or improve movement and function as the condition progresses. The most common locations for procedures in CMT are at the foot and ankle. Other areas that may benefit from surgery include the hip (to prevent dislocation), the knee (to avoid kneecap dislocation), and the spine to correct and stabilize scoliosis.
- #57 Charcot-Marie-Tooth Disease Causes, Symptoms, Treatment | HSShttps://www.hss.edu/condition-list_charcot-marie-tooth-disease.asp
Surgery to address foot and ankle weakness and the potentially painful cavus foot (high arch) requires a multi-step foot-and-ankle reconstruction surgery that includes soft tissue releases and tendon transfers to remove contractures and rebalance muscle forces. Osteotomies or joint fusions are often needed to realign bones to improve foot position to reduce pain and enhance gait efficiency (help the patient walk more naturally and with less effort or strain on the foot). For hip dysplasia, the bones of the femur and pelvis may be repositioned to improve way the hip joint fits together, helping to restore its anatomy and function. For scoliosis, bracing is often ineffective to halt progression of spinal deformity, therefore, spinal fusion is usually the primary treatment option.
- #58 Charcot-Marie-Tooth Disease Causes, Symptoms, Treatment | HSShttps://www.hss.edu/condition-list_charcot-marie-tooth-disease.asp
Surgery to address foot and ankle weakness and the potentially painful cavus foot (high arch) requires a multi-step foot-and-ankle reconstruction surgery that includes soft tissue releases and tendon transfers to remove contractures and rebalance muscle forces. Osteotomies or joint fusions are often needed to realign bones to improve foot position to reduce pain and enhance gait efficiency (help the patient walk more naturally and with less effort or strain on the foot). For hip dysplasia, the bones of the femur and pelvis may be repositioned to improve way the hip joint fits together, helping to restore its anatomy and function. For scoliosis, bracing is often ineffective to halt progression of spinal deformity, therefore, spinal fusion is usually the primary treatment option.
- #59https://www.footcaremd.org/conditions-treatments/ankle/charcot-marie-tooth-disease
Currently there is no cure for Charcot-Marie-Tooth disease. Treatment is aimed at helping to manage the symptoms and improve function in the feet and legs. Since maintaining good strength and range of motion is very important, physical therapy may be prescribed. An ankle-foot orthosis (AFO) may be prescribed along with appropriate shoes to help with walking. Medications to help with numbness also may be discussed. Patients with Charcot-Marie-Tooth disease should inspect their feet daily to detect breakdown of the skin. […] In rare situations surgery may be discussed to correct significant deformities around the foot and ankle. These surgical interventions are focused on either fusion, tendon transfers, or both to realign the foot and help balance the forces around the foot causing the deformity.
- #60 Charcot-Marie-Tooth disease | Beacon Health Systemhttps://www.beaconhealthsystem.org/library/diseases-and-conditions/charcot-marie-tooth-disease?content_id=CON-20155112
Many people with Charcot-Marie-Tooth disease require the help of certain orthopedic devices to maintain everyday mobility and to prevent injury. Leg and ankle braces or splints can provide stability while walking and climbing stairs. […] If foot deformities are severe, corrective foot surgery may help alleviate pain and improve your ability to walk. Surgery can’t improve weakness or loss of sensation. […] Researchers are investigating a number of potential therapies that may one day treat Charcot-Marie-Tooth disease. Potential therapies include medications, gene therapy and in vitro procedures that may help prevent passing the disease to future generations.
- #61 Current Treatment Methods for CharcotâMarieâTooth Diseaseshttps://pmc.ncbi.nlm.nih.gov/articles/PMC11430469/
Orthoses is another CMT management method that complements rehabilitative approaches and plays an important role in improving balance, gait, and the ability to perform the activities of daily life. […] As physiotherapy, proper foot care, and surgery are not enough to ameliorate CMT-related symptoms, additional symptomatological drugs are used. […] Drug treatment for CMT primarily focuses on symptom relief, whereas gene therapy aims to ameliorate or potentially cure symptoms of CMT with minimal adverse events by transferring genetic material into the cells of the patients. […] Gene therapy is the treatment of a disease through transferring genetic material into cells of the patients. Gene addition and gene replacement are important methods for gene therapies. […] Current gene editing technology is laying the foundation for the formulation of future disease therapies.
- #62 Current Treatment Methods for CharcotâMarieâTooth Diseaseshttps://www.mdpi.com/2218-273X/14/9/1138
Drug treatment for CMT primarily focuses on symptom relief, whereas gene therapy aims to ameliorate or potentially cure symptoms of CMT with minimal adverse events by transferring genetic material into the cells of the patients. […] Many promising compounds targeting pathophysiological pathways are being tested as CMT treatments. […] Gene therapy is the treatment of a disease through transferring genetic material into cells of the patients. […] Gene addition and gene replacement are important methods for gene therapies. […] Current gene editing technology is laying the foundation for the formulation of future disease therapies. […] The management of CMT involves a comprehensive approach based on an understanding of pathogenesis and disease progression, encompassing pharmacotherapy, gene therapy, patient education, rehabilitation, and orthopedic surgery.
- #63 Current Treatment Methods for CharcotâMarieâTooth Diseaseshttps://pmc.ncbi.nlm.nih.gov/articles/PMC11430469/
Orthoses is another CMT management method that complements rehabilitative approaches and plays an important role in improving balance, gait, and the ability to perform the activities of daily life. […] As physiotherapy, proper foot care, and surgery are not enough to ameliorate CMT-related symptoms, additional symptomatological drugs are used. […] Drug treatment for CMT primarily focuses on symptom relief, whereas gene therapy aims to ameliorate or potentially cure symptoms of CMT with minimal adverse events by transferring genetic material into the cells of the patients. […] Gene therapy is the treatment of a disease through transferring genetic material into cells of the patients. Gene addition and gene replacement are important methods for gene therapies. […] Current gene editing technology is laying the foundation for the formulation of future disease therapies.
- #64 Current Treatment Methods for CharcotâMarieâTooth Diseaseshttps://www.mdpi.com/2218-273X/14/9/1138
Drug treatment for CMT primarily focuses on symptom relief, whereas gene therapy aims to ameliorate or potentially cure symptoms of CMT with minimal adverse events by transferring genetic material into the cells of the patients. […] Many promising compounds targeting pathophysiological pathways are being tested as CMT treatments. […] Gene therapy is the treatment of a disease through transferring genetic material into cells of the patients. […] Gene addition and gene replacement are important methods for gene therapies. […] Current gene editing technology is laying the foundation for the formulation of future disease therapies. […] The management of CMT involves a comprehensive approach based on an understanding of pathogenesis and disease progression, encompassing pharmacotherapy, gene therapy, patient education, rehabilitation, and orthopedic surgery.
- #65 Treatment Is in Sight for Charcot-Marie-Tooth Diseasehttps://www.medscape.com/viewarticle/last-treatment-sight-charcot-marie-tooth-disease-2024a1000iys
Theres no medical treatment for Charcot-Marie-Tooth (CMT) disease, a debilitating neurologic disorder thats both progressive and incurable. […] Genetic-based therapies are currently in preclinical research phases, and an experimental small-molecule drug has reached phase 3 in humans, neurologists told an audience here at the American Association of Neuromuscular Electrodiagnostic Medicine (AANEM) 2024. […] In regard to genetic treatment, Bipasha Mukherjee-Clavin, MD, PhD, of Johns Hopkins University School of Medicine, Baltimore, said a key factor is whether the patients form of CMT is passed on in an autosomal dominant or autosomal recessive manner. […] A tool like CRISPR could be used to directly edit the part of the genome with a CMT-causing mutation or a viral vector could deliver a healthy, wild-type copy of a gene, she said.
- #66 Treatment Is in Sight for Charcot-Marie-Tooth Diseasehttps://www.medscape.com/viewarticle/last-treatment-sight-charcot-marie-tooth-disease-2024a1000iys
Currently, about seven different projects are in the works on the RNA therapeutics front in CMT, she said, including six focusing on type 1A. […] Mukherjee-Clavin highlighted two RNA therapeutic products that she expects to move from preclinical to clinical research soon. […] One is TVR110 by Armatus Bio, a microRNA intrathecal injection product, which aims to reduce PMP22 overexpression. […] The other therapy, a small interfering RNA intravenous product delivered to Schwann cells, is being developed by DTx Pharma/Novartis. […] Meanwhile, the University of Miamis Saporta highlighted small-molecule strategies that target a subtype of CMT called sorbitol dehydrogenase (SORD) deficiency thats caused by mutations in the SORD gene. […] He noted that Applied Therapeutics is testing an investigational drug called govorestat (AT-007) in 56 patients in a double-blind, randomized, placebo-controlled phase 3 registrational study.
- #67 Treatment Is in Sight for Charcot-Marie-Tooth Diseasehttps://www.medscape.com/viewarticle/last-treatment-sight-charcot-marie-tooth-disease-2024a1000iys
Currently, about seven different projects are in the works on the RNA therapeutics front in CMT, she said, including six focusing on type 1A. […] Mukherjee-Clavin highlighted two RNA therapeutic products that she expects to move from preclinical to clinical research soon. […] One is TVR110 by Armatus Bio, a microRNA intrathecal injection product, which aims to reduce PMP22 overexpression. […] The other therapy, a small interfering RNA intravenous product delivered to Schwann cells, is being developed by DTx Pharma/Novartis. […] Meanwhile, the University of Miamis Saporta highlighted small-molecule strategies that target a subtype of CMT called sorbitol dehydrogenase (SORD) deficiency thats caused by mutations in the SORD gene. […] He noted that Applied Therapeutics is testing an investigational drug called govorestat (AT-007) in 56 patients in a double-blind, randomized, placebo-controlled phase 3 registrational study.
- #68 Treatment Is in Sight for Charcot-Marie-Tooth Diseasehttps://www.medscape.com/viewarticle/last-treatment-sight-charcot-marie-tooth-disease-2024a1000iys
Currently, about seven different projects are in the works on the RNA therapeutics front in CMT, she said, including six focusing on type 1A. […] Mukherjee-Clavin highlighted two RNA therapeutic products that she expects to move from preclinical to clinical research soon. […] One is TVR110 by Armatus Bio, a microRNA intrathecal injection product, which aims to reduce PMP22 overexpression. […] The other therapy, a small interfering RNA intravenous product delivered to Schwann cells, is being developed by DTx Pharma/Novartis. […] Meanwhile, the University of Miamis Saporta highlighted small-molecule strategies that target a subtype of CMT called sorbitol dehydrogenase (SORD) deficiency thats caused by mutations in the SORD gene. […] He noted that Applied Therapeutics is testing an investigational drug called govorestat (AT-007) in 56 patients in a double-blind, randomized, placebo-controlled phase 3 registrational study.
- #69 Gene Therapy | CMT Research Foundationhttps://cmtrf.org/gene-therapy/
Charcot-Marie-Tooth is influenced significantly by genetics with over 100 genes directly involved in its development. […] Gene therapy is a technique aiming to modify or control gene expression to treat or cure diseases. For CMT, gene therapy can correct genetic mutations by replacing, adding, silencing, or modifying affected genes. […] Learning from successful gene therapies in other neuromuscular disorders has provided valuable insights for CMT treatment. While gene therapy shows promise, ongoing research and clinical trials are essential for safety and effectiveness. […] The potential CMT1A therapy from Armatus Bio is based on a completed CMTRF-funded research project from Dr. Kleopas Kleopa at the Cyprus Institute of Neurology and Genetics in collaboration with Dr. Scott Q. Harper and his team at Nationwide Childrenâs Hospital. The team developed a vectorized RNAi-based therapy for CMT1A that is aimed at reducing or eliminating disease symptoms by lowering levels of excess PMP22, the culprit behind CMT1A.
- #70 Treatment Is in Sight for Charcot-Marie-Tooth Diseasehttps://www.medscape.com/viewarticle/last-treatment-sight-charcot-marie-tooth-disease-2024a1000iys
Currently, about seven different projects are in the works on the RNA therapeutics front in CMT, she said, including six focusing on type 1A. […] Mukherjee-Clavin highlighted two RNA therapeutic products that she expects to move from preclinical to clinical research soon. […] One is TVR110 by Armatus Bio, a microRNA intrathecal injection product, which aims to reduce PMP22 overexpression. […] The other therapy, a small interfering RNA intravenous product delivered to Schwann cells, is being developed by DTx Pharma/Novartis. […] Meanwhile, the University of Miamis Saporta highlighted small-molecule strategies that target a subtype of CMT called sorbitol dehydrogenase (SORD) deficiency thats caused by mutations in the SORD gene. […] He noted that Applied Therapeutics is testing an investigational drug called govorestat (AT-007) in 56 patients in a double-blind, randomized, placebo-controlled phase 3 registrational study.
- #71 NMD Pharmaâs Charcot-Marie-Tooth disease treatment granted ODD by FDA – Pharmafilehttps://pharmafile.com/news/nmd-pharmas-charcot-marie-tooth-disease-treatment-granted-odd-by-fda/
Biotech company NMD Pharma has announced that the US Food and Drug Association (FDA) have granted its Charcot-Marie-Tooth (CMT) disease treatment NMD670 orphan drug designation (ODD). […] NMD670 is a small molecule inhibitor of the skeletal muscle-specific chloride ion channel CIC-1. […] In November 2024, NMD Pharma announced the initiation of the phase 2 clinical trial SYNAPSE-CMT, which will test a twice-daily oral dose of NMD670 over 21 days in 80 adult patients with any genetically confirmed CMT1 or CMT2 subtype. […] Based on positive results from preclinical studies and the recently published ESTABLISH1 CMT observational study, this designation not only highlights the urgent need for novel, effective treatments for this rare disease, but also underscores the therapeutic potential of our skeletal muscle-specific ClC-1 inhibitor approach to address the associated muscle weakness and fatigue.
- #72 NMD Pharmaâs Charcot-Marie-Tooth disease treatment granted ODD by FDA – Pharmafilehttps://pharmafile.com/news/nmd-pharmas-charcot-marie-tooth-disease-treatment-granted-odd-by-fda/
Biotech company NMD Pharma has announced that the US Food and Drug Association (FDA) have granted its Charcot-Marie-Tooth (CMT) disease treatment NMD670 orphan drug designation (ODD). […] NMD670 is a small molecule inhibitor of the skeletal muscle-specific chloride ion channel CIC-1. […] In November 2024, NMD Pharma announced the initiation of the phase 2 clinical trial SYNAPSE-CMT, which will test a twice-daily oral dose of NMD670 over 21 days in 80 adult patients with any genetically confirmed CMT1 or CMT2 subtype. […] Based on positive results from preclinical studies and the recently published ESTABLISH1 CMT observational study, this designation not only highlights the urgent need for novel, effective treatments for this rare disease, but also underscores the therapeutic potential of our skeletal muscle-specific ClC-1 inhibitor approach to address the associated muscle weakness and fatigue.
- #73 Experimental Treatments for CharcotâMarieâTooth Disease | Charcot-Marie-Tooth NewsEnvelope iconhttps://charcot-marie-toothnews.com/experimental-treatments-for-charcot-marie-tooth-disease-2/
PXT3003 is being developed to reduce the levels of PMP22 gene expression. It is a combination of three already approved treatments: baclofen, naltrexone, and sorbitol. A pivotal Phase 3 trial is currently enrolling. […] Ricolinostat (ACY-1215), designed to restore nerve function by inhibiting the histone deacetylase 6 protein, is being developed to treat CMT type 2, as well as diabetic and chemotherapy-induced peripheral neuropathy. A Phase 2 trial in CMT2 patients is currently enrolling.
- #74 Charcot-Marie-Tooth Disease Medication: Nonsteroidal anti-inflammatory drugs, Cyclooxygenase-2 inhibitors, Tricyclic antidepressants, Anticonvulsants, Analgesicshttps://emedicine.medscape.com/article/1232386-medication
PLEO-CMT was a 15-month double-blind study that assessed the efficacy and safety of two doses of PXT3003 as compared with placebo in 323 patients (age range, 16-65 years) with mild-to-moderate CMT 1A. […] An animal study published in 2019 found that early short-term PXT3003 combinational therapy delayed disease onset in a transgenic rat model of CMT 1A.
- #75 Experimental Treatments for CharcotâMarieâTooth Disease | Charcot-Marie-Tooth NewsEnvelope iconhttps://charcot-marie-toothnews.com/experimental-treatments-for-charcot-marie-tooth-disease-2/
PXT3003 is being developed to reduce the levels of PMP22 gene expression. It is a combination of three already approved treatments: baclofen, naltrexone, and sorbitol. A pivotal Phase 3 trial is currently enrolling. […] Ricolinostat (ACY-1215), designed to restore nerve function by inhibiting the histone deacetylase 6 protein, is being developed to treat CMT type 2, as well as diabetic and chemotherapy-induced peripheral neuropathy. A Phase 2 trial in CMT2 patients is currently enrolling.
- #76 Effective Charcot Marie Tooth Disease Treatmenthttps://drchandrilchugh.com/charcot-marie-tooth-disease/effective-charcot-marie-tooth-disease-treatments/
Researchers are actively exploring potential future treatments for Charcot Marie Tooth Disease, including the use of medications, gene therapy, and stem cell research. […] While there is no cure for Charcot Marie Tooth Disease, individuals can optimize their quality of life and maintain overall well-being by combining medical treatments with self-care practices.
- #77 CharcotâMarieâTooth disease – Wikipediahttps://en.wikipedia.org/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease
Currently, there is no cure for CMT; however, treatments such as physical therapy, orthopedic devices, surgery, and medications can help manage symptoms and improve quality of life. […] Physical and occupational therapy can help preserve muscle strength, flexibility, and mobility. […] Orthopedic devices like ankle-foot orthoses (AFOs) are commonly used to correct foot drop and improve gait. In some cases, surgical interventions may be necessary to straighten toes, lower arches, or fuse joints to enhance stability. Pain management may involve physical therapy, assistive devices, or medications for neuropathic pain. […] Patients are advised to avoid prolonged immobility, which can accelerate disease progression. Regular follow-up with healthcare providers is essential to adapt care as the disease progresses.
- #78 CharcotâMarieâTooth disease – Wikipediahttps://en.wikipedia.org/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease
Currently, there is no cure for CMT; however, treatments such as physical therapy, orthopedic devices, surgery, and medications can help manage symptoms and improve quality of life. […] Physical and occupational therapy can help preserve muscle strength, flexibility, and mobility. […] Orthopedic devices like ankle-foot orthoses (AFOs) are commonly used to correct foot drop and improve gait. In some cases, surgical interventions may be necessary to straighten toes, lower arches, or fuse joints to enhance stability. Pain management may involve physical therapy, assistive devices, or medications for neuropathic pain. […] Patients are advised to avoid prolonged immobility, which can accelerate disease progression. Regular follow-up with healthcare providers is essential to adapt care as the disease progresses.
- #79 Charcot-Marie-Tooth disease (CMT) – Muscular Dystrophy UKhttps://www.musculardystrophyuk.org/conditions/a-z/charcot-marie-tooth-disease-cmt/
Orthotic devices are often recommended to improve walking and help reduce the risk of falls. These could be insoles in shoes, ankle or leg braces, or custom-made shoes to provide better ankle support. […] Foot care is very important for people with CMT. This is because the loss of feeling in the feet means injuries, ulcers, or sores, may not be felt or noticed right away. […] For those experiencing joint or nerve pain, there are medications to help ease the pain. For people with significant foot deformities that are causing pain, surgery may be helpful. There are procedures that can help to correct foot deformities, making it easier to balance on the feet and walk.
- #80 Charcot-Marie-Tooth Disease – OrthoInfo – AAOShttps://orthoinfo.aaos.org/en/diseases–conditions/charcot-marie-tooth-disease/
Medication. Although CMT causes loss of sensation, some patients have pain due to nerve damage or muscle cramping. Your or your child’s doctor can prescribe medication to help relieve these types of pain. […] Your or your child’s doctor may recommend surgery to correct foot deformities. Procedures to straighten toes or lower arches can help improve foot positioning and relieve pain. Surgery can also help address shoe-wear problems. […] Although surgery can address bone deformity, it cannot improve muscle weakness or sensory loss.
- #81 Charcot-Marie-Tooth Disease Medication: Nonsteroidal anti-inflammatory drugs, Cyclooxygenase-2 inhibitors, Tricyclic antidepressants, Anticonvulsants, Analgesicshttps://emedicine.medscape.com/article/1232386-medication
Avoid drugs and medications known to cause nerve damage (eg, vincristine, isoniazid, and nitrofurantoin). Identify the cause of any pain as accurately as possible. Musculoskeletal pain may respond to acetaminophen or nonsteroidal anti-inflammatory drugs (NSAIDs). Neuropathic pain may respond to tricyclic antidepressants or antiepileptic drugs, such as carbamazepine or gabapentin. […] Dyck et al, as well as Ginsberg et al, have described a few individuals with Charcot-Marie-Tooth (CMT) disease type 1 and sudden deterioration in whom treatment with steroids (prednisone) or intravenous immunoglobulin produced variable levels of improvement. […] An exploratory randomized double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with CMT 1A confirmed that PXT3003 was a safe and well-tolerated treatment for adults with this condition.
- #82https://www.footcaremd.org/conditions-treatments/ankle/charcot-marie-tooth-disease
Charcot-Marie-Tooth disease is a progressive disorder and will require continued treatment throughout a patient’s lifetime. As changes occur based on the progression of the disorder it will be important to have regular check-ups with your doctor. Usually treatment will be a team approach with your foot and ankle orthopaedic surgeon working and several other specialists helping with your care. If symptoms change or worsen prior to your regular check-up it is important to contact your doctor and be seen early.
- #83 Treatment – Charcot-Marie-Tooth UKhttps://www.cmt.org.uk/cmt-and-you/managing-cmt/treatment/
Treatments exist for many of the complications of CMT, at present there are no disease-modifying therapies to either halt the progression or cure CMT. However, many aspects of the condition can be managed for most people. […] Current treatments include physiotherapy, orthotics, occupational therapy, pain and fatigue management and when indicated orthopaedic surgery, speech therapy and respiratory support. […] CMT should be treated by people who know about the condition. This means that treatment should be overseen by a consultant neurologist (or paediatric neurologist) with a specialist interest in peripheral neuropathy (which includes CMT) or a rehabilitation medicine physician with an interest in neuromuscular conditions. […] A neurologist specialises in understanding how nerves work, what can go wrong with them, the likely course of any problems, and what treatments and care options may help.
- #84 Treatment – Charcot-Marie-Tooth UKhttps://www.cmt.org.uk/cmt-and-you/managing-cmt/treatment/
Treatments exist for many of the complications of CMT, at present there are no disease-modifying therapies to either halt the progression or cure CMT. However, many aspects of the condition can be managed for most people. […] Current treatments include physiotherapy, orthotics, occupational therapy, pain and fatigue management and when indicated orthopaedic surgery, speech therapy and respiratory support. […] CMT should be treated by people who know about the condition. This means that treatment should be overseen by a consultant neurologist (or paediatric neurologist) with a specialist interest in peripheral neuropathy (which includes CMT) or a rehabilitation medicine physician with an interest in neuromuscular conditions. […] A neurologist specialises in understanding how nerves work, what can go wrong with them, the likely course of any problems, and what treatments and care options may help.
- #85 Charcot-Marie-Tooth Disease – OrthoInfo – AAOShttps://orthoinfo.aaos.org/en/diseases–conditions/charcot-marie-tooth-disease/
Charcot-Marie-Tooth disease is a group of disorders that affect the peripheral nerves the nerves that carry messages between the brain and muscles throughout the body. […] Although there is no cure for Charcot-Marie-Tooth disease, there are many treatment options and assistive devices to help people manage physical challenges and lead fulfilling lives. […] There is no cure for Charcot-Marie-Tooth disease. However, there are many treatment options to help you or your child manage the effects of the disorder. […] Several medical specialists are typically involved in the ongoing care of people with CMT. These include orthopaedic surgeons, physical therapists, occupational therapists, orthotists, and podiatrists. […] Physical therapy. Specific exercises to improve muscle strength and flexibility will help you or your child maintain mobility and independence. A physical therapist can develop a program that includes: Strengthening exercises, Stretching, Muscle endurance activities such as low-impact aerobics and swimming.
- #86 CMT Clinic | UI Healthhttps://uicdss2.ingeniuxondemand.com/primary-and-specialty-care/neurology-and-neurosurgery/neurological-conditions-we-treat/neuromuscular-disease/our-expertise/cmt-clinic
The CMT Clinic at UI Health, created in partnership with the Charcot Marie Tooth Association (CMTA) directed by Dr. Charles Abrams, brings together a team of medical professionals to meet with and treat patients in one setting, all in one day. The multidisciplinary approach allows our patients to not only have an opportunity to discuss their medical needs with a neuromuscular specialist and with a comprehensive team of medical professionals who are well versed in CMT, including genetic counselors, physical therapists, occupational therapists, orthotists, dietitians, social workers, and nurses. […] The clinic team provides important medical care for patients and keeps them updated on the latest research and treatment landscape while also helping them in the management of their disease in a supportive, specialized, collaborative environment.
- #87 CMT Clinic | UI Healthhttps://uicdss2.ingeniuxondemand.com/primary-and-specialty-care/neurology-and-neurosurgery/neurological-conditions-we-treat/neuromuscular-disease/our-expertise/cmt-clinic
The CMT Clinic at UI Health, created in partnership with the Charcot Marie Tooth Association (CMTA) directed by Dr. Charles Abrams, brings together a team of medical professionals to meet with and treat patients in one setting, all in one day. The multidisciplinary approach allows our patients to not only have an opportunity to discuss their medical needs with a neuromuscular specialist and with a comprehensive team of medical professionals who are well versed in CMT, including genetic counselors, physical therapists, occupational therapists, orthotists, dietitians, social workers, and nurses. […] The clinic team provides important medical care for patients and keeps them updated on the latest research and treatment landscape while also helping them in the management of their disease in a supportive, specialized, collaborative environment.
- #88 Charcot-Marie-Tooth Disease: Symptoms & Treatments | Ada Healthhttps://ada.com/conditions/charcot-marie-tooth-disease/
There is no cure for Charcot-Marie-Tooth, but treatment can help relieve the symptoms […] Charcot-Marie-Tooth disease treatment focuses on relieving your symptoms and supporting you in your daily activities. Your healthcare provider may recommend: […] Physical therapy in order to improve your balance and strength […] Occupational therapy to help you with your daily activities […] Certain medical devices such as walking aids to increase your quality of life […] Psychological support to help you cope with the diagnosis […] There is no cure for Charcot-Marie-Tooth disease, but there are several treatment options that can help you relieve your symptoms and improve your quality of life. Your healthcare provider may recommend physical therapy, occupational therapy, or walking aids.
- #89 Charcot-Marie-Tooth (CMT): Symptoms, causes, types, and treatmenthttps://www.medicalnewstoday.com/articles/172056
Assistive devices, such as orthopedic devices, braces or splints, can help the individual stay mobile and prevent injury. Shoes with high tops or special boots provide extra ankle support, and special shoes or shoe inserts can improve gait. Thumb splints may help with dexterity. […] Cognitive behavioral therapy (CBT) can help patients with CMT to cope better with everyday life and, if necessary, with depression. […] Surgery to fuse bones in the feet or to remove part of a tendon can sometimes alleviate pain and make walking easier. Surgery can correct flat feet, relieve joint pain and correct heel deformities. […] Patients who also have scoliosis, or curvature of the spine, may need a back brace and sometimes surgery.
- #90 Charcot-Marie-Tooth Disease – Seattle Children’shttps://www.seattlechildrens.org/conditions/charcot-marie-tooth-disease/
Occupational therapy to help your child with activities like writing, dressing and using a computer keyboard. […] Shoe inserts or braces for your childs ankles and feet to help them walk more easily. […] Braces to support their fingers and thumbs to help with writing and other tasks. […] Orthopedic surgery for conditions like hammertoe, high arches, scoliosis or kyphosis. […] Medicines to ease any pain your child may have. […] If needed, devices that help your child walk or get around, such as a cane, walker, wheelchair or motorized scooter. […] A dietitian will work with you and your child to make sure they get the nutrition that supports their best growth and development. […] A social worker helps your child and family with coping, social relationships, behavior and emotions. Along with your childs doctors, nurses and therapists, the social worker will connect you with helpful resources at Seattle Childrens and in the community.
- #91 Charcot-Marie-Tooth Disease Treatment | UVA Healthhttps://uvahealth.com/services/neurology/charcot-marie-tooth-disease
No matter which type you have, Charcot-Marie-Tooth disease can be difficult to live with. […] While theres no cure for Charcot-Marie-Tooth disease, we can help reduce your symptoms and increase your quality of life. […] Physical therapy is an important part of CMT treatment. […] Our prosthetics and orthotics team offers assistive devices like braces, orthotics, and shoe inserts to support your feet and ankles. […] If you have pain, we may be able to treat it with medication. […] In severe cases, we may do surgery to correct foot or hand deformities, stop nerve compression, or release tight tendons to make moving easier. […] We offer occupational therapy to help with everyday tasks. […] We also have social workers who can help with the stress of having an ongoing illness.
- #92 Charcot Marie Tooth | Memorial Hermannhttps://memorialhermann.org/services/conditions/charcot-marie-tooth
The CMT Association is a fantastic resource for families living with CMT. Through the CMT Association, you can access educational newsletters, webinars and conferences, and stay apprised of important research updates. There are also opportunities to personally connect with other CMT families locally, regionally and nationally. Visit cmtausa.org to learn more.
- #93 Charcot-Marie-Tooth Disease (CMT) | Rady Children’s Hospitalhttps://www.rchsd.org/health-article/charcot-marie-tooth-disease-cmt/
How Is Charcot-Marie-Tooth Disease (CMT) Treated? […] There is no cure for CMT disease yet. The treatment goal is to help the child stay as active as possible. Because of the loss of feeling, avoiding injury from impact and burns requires extra care. […] Treatments to help children stay as active as possible include: […] Braces, such as ankle-foot orthoses (AFOs), to support the feet for easier walking. […] Medicines for pain relief. […] Physical therapy (PT) exercises and stretching to help maintain strength and flexibility. […] Occupational therapy (OT) to help with managing tasks at home, school, and work. […] Surgery to loosen tight tendons and joints (contractures). […] […] […] Often, CMT symptoms are not severe, and many treatments can help. People with CMT have a normal life expectancy, and most can walk their entire lives. Support groups can help you and your child they can connect you to other families who are managing CMT and keep you up to date on treatment research.
- #94 Understanding CMT: Symptoms & Managementhttps://www.cmtausa.org/understanding-cmt/what-is-cmt/
There currently is no treatment or cure for this debilitating and often overlooked disease. […] TREATING CMT IS A HIGHLY INDIVIDUALIZED APPROACH TO SYMPTOM MANAGEMENT. There arent yet any approved treatments for CMT. However, the many symptoms and presentations of CMT can be well-managed. Each person who has CMT has their own individual needs. Physical and occupational therapy, proper foot and ankle orthoses (AFOs), remaining as active as one can, surgical intervention to correct foot deformities, and surgical intervention to correct hand deformities are just some of the ways CMT symptoms are managed. […] CMTA is aggressively pursuing treatments and a cure for all types of CMT. Since launching the Strategy to Accelerate Research (STAR) in 2008, CMTA has been working with preeminent researchers, clinicians, patients and institutions in the global inherited neuropathy community to capitalize on breakthroughs in genetics.
- #95 Understanding CMT: Symptoms & Managementhttps://www.cmtausa.org/understanding-cmt/what-is-cmt/
CMTA has made unprecedented progress toward therapies for virtually almost all types of CMT. Since the inception of STAR, CMTA has financed more than 100 projects and committed over $23.5 million in research. Thanks to support from our donors, STAR continues to gain momentum and the promise of breakthroughs is imminent.
- #96 Charcot-Marie-Tooth Disease – New Gene Therapy Shows Potential in Early Trial for Charcot-Marie-Tooth Diseasehttps://www.hnf-cure.org/triad/triad-clinical-trial-rediness/new-gene-therapy-shows-potential-in-early-trial-for-charcot-marie-tooth-disease/
A recent clinical trial has shown promising results for a new treatment option for people living with Charcot-Marie-Tooth (CMT) disease. The therapy involves a special type of gene medicine that uses a plasmid (a small, circular piece of DNA) to deliver a gene that may help nerve and muscle function. […] Researchers developed a plasmid that allows for the production of two forms of a protein called hepatocyte growth factor (HGF), which has been shown to support nerve growth and improve blood flow in studies. […] The treatment was well tolerated by most participants. […] Importantly, there were no serious side effects, and none of the patients developed antibodies against the HGF protein, meaning their bodies didnât reject the treatment. […] By the end of the study, participants showed some improvements:
- #97 Charcot-Marie-Tooth Disease – New Gene Therapy Shows Potential in Early Trial for Charcot-Marie-Tooth Diseasehttps://www.hnf-cure.org/triad/triad-clinical-trial-rediness/new-gene-therapy-shows-potential-in-early-trial-for-charcot-marie-tooth-disease/
A recent clinical trial has shown promising results for a new treatment option for people living with Charcot-Marie-Tooth (CMT) disease. The therapy involves a special type of gene medicine that uses a plasmid (a small, circular piece of DNA) to deliver a gene that may help nerve and muscle function. […] Researchers developed a plasmid that allows for the production of two forms of a protein called hepatocyte growth factor (HGF), which has been shown to support nerve growth and improve blood flow in studies. […] The treatment was well tolerated by most participants. […] Importantly, there were no serious side effects, and none of the patients developed antibodies against the HGF protein, meaning their bodies didnât reject the treatment. […] By the end of the study, participants showed some improvements:
- #98 Charcot-Marie-Tooth Disease – New Gene Therapy Shows Potential in Early Trial for Charcot-Marie-Tooth Diseasehttps://www.hnf-cure.org/triad/triad-clinical-trial-rediness/new-gene-therapy-shows-potential-in-early-trial-for-charcot-marie-tooth-disease/
Based on these encouraging results, a larger Phase 2 study is being considered to confirm these findings and explore whether the treatment could benefit more people with CMT type 1A. […] This early research shows hope for a potential new therapy that could improve daily functioning and quality of life for people living with CMT.
- #99 Charcot-Marie-Tooth Disease – New Gene Therapy Shows Potential in Early Trial for Charcot-Marie-Tooth Diseasehttps://www.hnf-cure.org/triad/triad-clinical-trial-rediness/new-gene-therapy-shows-potential-in-early-trial-for-charcot-marie-tooth-disease/
Based on these encouraging results, a larger Phase 2 study is being considered to confirm these findings and explore whether the treatment could benefit more people with CMT type 1A. […] This early research shows hope for a potential new therapy that could improve daily functioning and quality of life for people living with CMT.
- #100 A new approach to treat Charcot-Marie-Tooth (CMT) Disease ⢠healthcare-in-europe.comhttps://healthcare-in-europe.com/en/news/new-treat-charcot-marie-tooth-cmt.html
The research team led by Professor Minseok Kim from the Department of New Biology at DGIST has developed a technology that can treat Charcot-Marie-Tooth disease, an incurable hereditary disease, with electric stimulation instead of drug therapy. […] The core of this technology is electric stimulation that restores the abnormal distribution of peripheral myelin protein 22 (PMP 22), the cause of the disease, to normal. […] This electric stimulation eliminated the PMP22 protein aggregation around the nucleus that occurs in CMT1A disease and restored the normal distribution of the PMP22 protein towards the cell membrane, similar to that of a normal Schwann cell. […] The key of this study is that it is the first demonstration that electric stimulation can restore the normal distribution of PMP22, which is a major protein in CMT1A disease. […] We hope that new electric medicine technologies will soon be commercialized to address CMT disease that currently has no cure and causes suffering to millions of people worldwide.
- #101 A new approach to treat Charcot-Marie-Tooth (CMT) Disease ⢠healthcare-in-europe.comhttps://healthcare-in-europe.com/en/news/new-treat-charcot-marie-tooth-cmt.html
The research team led by Professor Minseok Kim from the Department of New Biology at DGIST has developed a technology that can treat Charcot-Marie-Tooth disease, an incurable hereditary disease, with electric stimulation instead of drug therapy. […] The core of this technology is electric stimulation that restores the abnormal distribution of peripheral myelin protein 22 (PMP 22), the cause of the disease, to normal. […] This electric stimulation eliminated the PMP22 protein aggregation around the nucleus that occurs in CMT1A disease and restored the normal distribution of the PMP22 protein towards the cell membrane, similar to that of a normal Schwann cell. […] The key of this study is that it is the first demonstration that electric stimulation can restore the normal distribution of PMP22, which is a major protein in CMT1A disease. […] We hope that new electric medicine technologies will soon be commercialized to address CMT disease that currently has no cure and causes suffering to millions of people worldwide.