Dystrofia mięśniowa
Epidemiologia

Dystrofie mięśniowe stanowią heterogeniczną grupę genetycznych schorzeń nerwowo-mięśniowych charakteryzujących się postępującym osłabieniem i zanikiem mięśni. Najczęstszą formą jest dystrofia mięśniowa Duchenne’a (DMD), występująca u około 1 na 3 500-5 000 żywych urodzeń męskich, z globalną chorobowością 7,1 na 100 000 mężczyzn i medianą przeżycia około 29,9 lat. Dystrofia Beckera (BMD) jest łagodniejszą formą, z częstością około 1 na 18 000-30 000 osób, charakteryzującą się późniejszym początkiem i dłuższym zachowaniem zdolności chodzenia. Inne typy dystrofii, takie jak LGMD, FSHD, EDMD, OPMD i DM, różnią się epidemiologią i przebiegiem klinicznym. Epidemiologia DMD i BMD wykazuje zróżnicowanie geograficzne i etniczne, a opóźnienie w diagnozie (średnio 2,5 roku od pierwszych objawów) pozostaje istotnym problemem klinicznym, wpływającym na możliwość wczesnego wdrożenia terapii i poradnictwa genetycznego.

  1. Epidemiologia Dystrofii Mięśniowej
    1. Światowa epidemiologia dystrofii mięśniowej
    2. Dystrofia mięśniowa Duchenne’a
    3. Dystrofia mięśniowa Beckera
    4. Inne typy dystrofii mięśniowej
  2. Systemy nadzoru i monitorowania dystrofii mięśniowej
    1. MD STARnet w Stanach Zjednoczonych
    2. Kluczowe pytania badawcze MD STARnet
    3. Wyniki badań MD STARnet
    4. Badania udziału w próbach klinicznych
  3. Dystrofia mięśniowa Duchenne’a – globalna perspektywa
    1. Zróżnicowanie między krajami
    2. Różnice rasowe i etniczne
    3. Wyzwania w diagnostyce i nadzorze
  4. Wpływ ekonomiczny i jakość życia
    1. Koszty opieki zdrowotnej
    2. Jakość życia i wyzwania dla pacjentów
  5. Przyszłość nadzoru i badań nad dystrofią mięśniową
    1. Potrzeba lepszych danych epidemiologicznych
    2. Znaczenie badania przesiewowego i wczesnej diagnozy
    3. Postępy w leczeniu i opiece
    4. Wyzwania w nadzorze endokrynologicznym
    5. Kolejne rozdziały

Epidemiologia Dystrofii Mięśniowej

Dystrofia mięśniowa to grupa heterogenicznych genetycznych schorzeń nerwowo-mięśniowych charakteryzujących się postępującym osłabieniem i zanikiem mięśni. Mimo znacznego postępu w diagnostyce i leczeniu tego schorzenia, uzyskanie dokładnych danych epidemiologicznych pozostaje wyzwaniem ze względu na różnorodność typów dystrofii, zmienność nasilenia objawów oraz złożoność badań genetycznych niezbędnych do postawienia diagnozy.12

Światowa epidemiologia dystrofii mięśniowej

Dystrofia mięśniowa jest stosunkowo rzadkim schorzeniem, dotykającym szacunkowo 1 na 5 000 do 10 000 osób na całym świecie. W Stanach Zjednoczonych około 250 000 osób żyje z dystrofią mięśniową lub pokrewnymi zaburzeniami nerwowo-mięśniowymi.1 Łączna chorobowość wszystkich form dystrofii mięśniowej szacowana jest na 19,8 do 25,1 przypadków na 100 000 osobolat.1

Dystrofia mięśniowa Duchenne’a (DMD) i dystrofia mięśniowa Beckera (BMD) stanowią ponad 80% wszystkich przypadków dystrofii mięśniowej, z odnotowaną chorobowością 15,6 na 100 000 chłopców w północnej Anglii.2 Częstotliwość występowania poszczególnych typów dystrofii mięśniowej różni się znacząco w zależności od regionu świata, a także charakterystyki badanej populacji.2

Dystrofia mięśniowa Duchenne’a

Dystrofia mięśniowa Duchenne’a (DMD) jest najczęstszym typem dystrofii mięśniowej obserwowanym u dzieci, dotykającym około 1 na 3 500 do 5 000 żywych urodzeń męskich na całym świecie.32 Globalna chorobowość DMD wynosi 7,1 przypadków (95% CI: 5,0-10,1) na 100 000 mężczyzn i 2,8 przypadków (95% CI: 1,6-4,6) na 100 000 w populacji ogólnej.12

Badania epidemiologiczne wskazują, że globalna częstość występowania DMD przy urodzeniu wynosi 19,8 (95% CI: 16,6-23,6) na 100 000 żywych urodzeń męskich.2 Badania przeprowadzone w Australii wykazały podobną częstość występowania choroby na poziomie 19,7 na 100 000 żywych urodzeń męskich, co odpowiada ryzyku 1 na 5 076 nowych przypadków DMD.1

Dane z różnych krajów wskazują na pewne różnice w częstości występowania DMD:

  • W Anglii chorobowość DMD oszacowano na 6,43 na 100 000 mężczyzn i 3,23 na 100 000 osób w populacji ogólnej1
  • W Szwecji chorobowość punktowa wynosiła 3,2 na 100 000 dorosłych mężczyzn, a częstość urodzeń 19,2 na 100 000 żywych urodzeń męskich1
  • We Włoszech chorobowość w populacji ogólnej wahała się od 1,7 do 3,4 przypadków na 100 000, przy częstości urodzeń 21,7-28,2 na 100 000 żywych urodzeń męskich1

Dystrofia mięśniowa Duchenne’a występuje głównie u chłopców, z typowym początkiem między 3 a 5 rokiem życia. Jest to choroba postępująca i ostatecznie śmiertelna, z przeżywalnością sięgającą zwykle późnego okresu nastoletniości lub wczesnych lat dwudziestych.4 Jednak dzięki postępom w leczeniu i opiece medycznej przeżywalność pacjentów z DMD znacznie się poprawiła, a mediana przeżycia wynosi obecnie 29,9 lat (95% CI 27,1-31,2).1

Dystrofia mięśniowa Beckera

Dystrofia mięśniowa Beckera (BMD) jest łagodniejszą formą dystrofii wynikającą z mutacji w tym samym genie DMD co dystrofia Duchenne’a. Częstość występowania BMD jest znacznie niższa niż DMD i wynosi około 1 na 18 000 do 30 000 osób na całym świecie, dotykając głównie mężczyzn.12

Szacowana częstość występowania BMD wynosi 1 przypadek na 30 000 urodzeń męskich, w porównaniu z 1 przypadkiem na 3 500 urodzeń męskich dla DMD. Chorobowość BMD szacuje się na 17-27 przypadków na 1 milion populacji.3 Światowa metaanaliza określiła ogólną częstość występowania BMD wśród mężczyzn na 1,53 na 100 000.1

BMD charakteryzuje się późniejszym początkiem i łagodniejszym przebiegiem niż DMD, z osobami często zachowującymi zdolność chodzenia aż do dorosłości. Dane z badań wykazały, że średni wiek wystąpienia objawów wynosił 11 lat (zakres 2-21 lat). Średni wiek, w którym pacjenci tracili zdolność chodzenia, wynosił 27 lat (zakres 12-30 lat), a średni wiek zgonu spowodowanego niewydolnością oddechową lub sercową wynosił 42 lata (zakres 23-63 lat).4

Inne typy dystrofii mięśniowej

Poza DMD i BMD istnieje wiele innych typów dystrofii mięśniowej, z których każdy ma inną epidemiologię:

  • Dystrofia mięśniowa obręczowo-kończynowa (LGMD) – grupa dziedzicznych dystrofii mięśniowych, które wpływają głównie na mięśnie obręczy biodrowej i barkowej. Obecnie istnieje ponad 30 podtypów LGMD. Chorobowość LGMD szacuje się na około 1 na 14 500 do 123 000 osób na całym świecie.2 Łącznie stanowi czwartą najczęstszą genetyczną przyczynę osłabienia mięśni z szacowaną światową częstością występowania między 0,8 a 6,9 na 100 000 osób. W Stanach Zjednoczonych około 5 000 osób żyje z LGMD.1
  • Dystrofia mięśniowa twarzowo-łopatkowo-ramieniowa (FSHD) – dotyka około 1 na 20 000 osób na całym świecie. FSHD zazwyczaj ma późniejszy początek i wolniejszy postęp niż inne typy dystrofii mięśniowej, z objawami często pojawiającymi się w wieku nastoletnim lub dorosłym.1 Szacuje się, że częstość występowania FSHD wynosi od 4 do 10 na 100 000 i jest to trzeci najczęstszy typ dystrofii mięśniowej po dystrofinopatiach i dystrofii miotonicznej.1
  • Dystrofia mięśniowa Emery’ego-Dreifussa (EDMD) – ogólna częstość występowania nie jest dokładnie znana, ale szacunki wskazują na około 0,4 do 1 na 100 000 osób.2
  • Dystrofia mięśniowa dystalna – ma tendencję do występowania w Szwecji.1
  • Dystrofia mięśniowa oczno-gardłowa (OPMD) – występuje na całym świecie ze zróżnicowaną częstotliwością. Szacowana częstość występowania w Europie wynosi 1 na 100 000-200 000. Najwyższą częstość występowania na poziomie 1 na 1 000 odnotowano wśród francuskich Kanadyjczyków w Quebecu i 1 na 600 wśród bucharskich Żydów w Izraelu.12
  • Dystrofia miotoniczna (DM) – typ 1 (DM1) jest najczęstszą dystrofią mięśniową o początku w wieku dorosłym i szacuje się, że dotyka około 1 na 8 000-20 000 osób w populacji ogólnej. Częstość występowania zarówno DM1, jak i dystrofii miotonicznej typu 2 (DM2) znacznie różni się w zależności od kraju i grupy etnicznej.3

Systemy nadzoru i monitorowania dystrofii mięśniowej

MD STARnet w Stanach Zjednoczonych

Centra Kontroli i Zapobiegania Chorobom (CDC) finansują sieć nadzoru, śledzenia i badań nad dystrofią mięśniową, znaną jako MD STARnet (Muscular Dystrophy Surveillance, Tracking, and Research Network). Jest to jedyny program zaprojektowany do zbierania informacji zdrowotnych o wszystkich osobach z dystrofią mięśniową mieszkających w określonych obszarach USA.1

MD STARnet jest unikalny, ponieważ zbiera informacje zdrowotne nie tylko od osób leczonych przez specjalistów w określonych klinikach medycznych, ale także z klinik ogólnych, szpitali oraz aktów urodzenia i zgonu. Dzięki temu gromadzi dane o dużej liczbie osób z różnych źródeł, co pozwala uzyskać pełniejszy obraz epidemiologii dystrofii mięśniowej w populacji.2

Obecnie MD STARnet działa w 7 stanach (Floryda, Iowa, Nowy Jork, Karolina Północna, Karolina Południowa, Utah, Wirginia) i ma na celu:1

  • Zdefiniowanie i opisanie populacji z dystrofią mięśniową w USA
  • Zdefiniowanie i opisanie potrzeb opieki zdrowotnej i wyników dla osób żyjących z dystrofią mięśniową
  • Zbieranie informacji w celu kierowania opieką, leczeniem i polityką dotyczącą dystrofii mięśniowej

W ramach MD STARnet prowadzony jest nadzór nad osobami z ośmioma różnymi typami dystrofii mięśniowej: Duchenne’a i Beckera (DBMD), miotoniczną (DM), wrodzoną (CMD), obręczowo-kończynową (LGMD), Emery’ego-Dreifussa, twarzowo-łopatkowo-ramieniową, dystalną i oczno-gardłową.1

Kluczowe pytania badawcze MD STARnet

CDC i partnerzy starają się odpowiedzieć na następujące kluczowe pytania poprzez MD STARnet:1

  • Ile osób jest dotkniętych poszczególnymi typami dystrofii mięśniowej?
  • Czy określone typy są częstsze wśród konkretnych grup rasowych i etnicznych?
  • Jak zmienia się zdrowie osób z dystrofią mięśniową w czasie?
  • Jakie usługi zdrowotne otrzymują pacjenci i ich rodziny?
  • Jak zmienia się leczenie i usługi, które otrzymują w czasie?
  • Jakie usługi zdrowotne otrzymują osoby z dystrofią mięśniową, gdy stają się dorosłe?
  • Czy rasa, pochodzenie etniczne, wykształcenie lub lokalizacja wpływają na dostęp do opieki?
  • Czy opieka nad pacjentem jest zgodna z najnowszymi wytycznymi klinicznymi?
  • Jakie są doświadczenia związane z ciążą u osób dotkniętych dystrofią mięśniową?
  • Jakie są doświadczenia edukacyjne i zawodowe osób z dystrofią mięśniową?
  • Jak powszechne są ból i zmęczenie i jak są leczone?

Wyniki badań MD STARnet

Na podstawie danych zbieranych przez MD STARnet ustalono, że:12

  • Około 1 na 5 000 chłopców w wieku 5-9 lat ma dystrofię mięśniową Duchenne’a lub Beckera (DBMD)
  • DMD występuje trzy razy częściej niż dystrofia mięśniowa Beckera
  • Mediana przeżycia u mężczyzn z DMD wynosi 23,7 lat
  • Całkowity czas od pierwszych objawów do diagnozy wynosi 2,5 roku
  • Średni wiek, w którym chłopcy zaczynali przyjmować sterydy, wynosił 7 lat
  • Między około 1/2 a 2/3 mężczyzn z DBMD przyjmowało sterydy
  • Odsetek mężczyzn z DBMD korzystających z wózka inwalidzkiego różnił się w zależności od wieku – około 3 na 10 mężczyzn z DBMD w wieku 5-9 lat korzystało z wózka inwalidzkiego
  • Ponad 4 na 10 miało problemy ze zdrowiem psychicznym
  • Problemy behawioralne były dwa razy częstsze u osób przyjmujących sterydy
  • Depresja dotykała osoby niechodzące 3 razy częściej niż osoby chodzące

Badania udziału w próbach klinicznych

MD STARnet jest również unikalnie przygotowany do identyfikacji i opisu osób, które nie uczestniczą w próbach klinicznych. Obserwowanie różnic między uczestnikami prób klinicznych a osobami niebiorącymi w nich udziału jest kluczowe dla zrozumienia możliwych barier uczestnictwa i maksymalizacji możliwości uogólnienia wyników badań.1

Badanie przeprowadzone na podstawie danych MD STARnet wykazało, że udział w próbach klinicznych zidentyfikowano wśród 17,9% (zakres w poszczególnych lokalizacjach MD STARnet: 3,7-27,3%) spośród 358 osób z DMD objętych analizą.1

Dystrofia mięśniowa Duchenne’a – globalna perspektywa

Zróżnicowanie między krajami

Dostępne dane epidemiologiczne wskazują na pewne różnice w częstości występowania dystrofii mięśniowej Duchenne’a między krajami i regionami. Według badań, całkowita chorobowość DMD w siedmiu głównych rynkach (Stany Zjednoczone, Niemcy, Hiszpania, Włochy, Francja, Wielka Brytania i Japonia) została oszacowana na 30 688 w 2020 roku.1

Wśród krajów UE-5 w 2020 roku Wielka Brytania miała najwyższą liczbę przypadków DMD z 2 622 przypadkami, następnie Niemcy (2 596) i Francja (2 101). Natomiast Hiszpania miała najniższą liczbę przypadków (1 478) w 2020 roku.2

W Stanach Zjednoczonych w 2020 roku odnotowano około 16 765 przypadków DMD, z najwyższą liczbą przypadków w grupie wiekowej 5-9 lat, a następnie w grupach wiekowych 10-14 lat i 15-20 lat.3 Według innego źródła, dystrofia mięśniowa Duchenne’a dotyka około 15 000 osób w Stanach Zjednoczonych, głównie mężczyzn, i ponad 300 000 na całym świecie.1

Różnice rasowe i etniczne

Badania wykazały różnice w rozpowszechnieniu dystrofii mięśniowej Duchenne’a i Beckera (DBMD) między różnymi grupami rasowymi i etnicznymi, co sugeruje potencjalne wpływy kulturowe i społeczno-ekonomiczne w diagnozie DBMD.1

Badanie przeprowadzone w USA w 2010 roku wykazało wyższy odsetek osób z dystrofią mięśniową Duchenne’a w wieku od 5 do 54 lat wśród Hiszpanów w porównaniu do nie-Hiszpańskich białych i nie-Hiszpańskich czarnych.1 Jednak inne badania sugerują, że istnieje niewielka zmienność w występowaniu dystrofii mięśniowej w zależności od pochodzenia etnicznego.1

Wyzwania w diagnostyce i nadzorze

Mimo znacznych postępów w zarządzaniu dystrofią mięśniową Duchenne’a u dzieci w ciągu ostatniej dekady, opublikowane dane pokazują, że nadal występuje opóźnienie w diagnozie tego schorzenia w różnych krajach.1

Średni wiek w momencie diagnozy wynosi od 4,1 do 4,3 lat i nie uległ znaczącej poprawie w ciągu ostatnich 20 lat.1 Badanie przeprowadzone przez MD STARnet wykazało, że występuje opóźnienie o około 2,5 roku między wystąpieniem objawów DMD a czasem ostatecznej diagnozy, co nie zmieniło się w ciągu poprzednich dwóch dekad.1

To opóźnienie skutkuje utratą możliwości terminowego poradnictwa genetycznego i rozpoczęcia leczenia kortykosteroidami. Zalecenia mające na celu obniżenie wieku diagnozy obejmują:2

  • Zwiększanie świadomości na temat DMD w społeczności
  • Edukację podstawowej opieki zdrowotnej, aby zapewnić, że DMD jest rozpoznawane jako potencjalna diagnoza u dzieci z objawami osłabienia mięśni i/lub opóźnienia mowy
  • Promowanie wczesnego badania poziomu kinazy kreatynowej (CK) jako opłacalnego, łatwo dostępnego narzędzia przesiewowego dla DMD

Wpływ ekonomiczny i jakość życia

Koszty opieki zdrowotnej

Dystrofia mięśniowa Duchenne’a wiąże się ze znacznymi kosztami opieki zdrowotnej. Badania wykazały prawie dziesięciokrotny wzrost kosztów opieki zdrowotnej u pacjentów z DMD w porównaniu z grupą kontrolną.2

Średnie roczne koszty choroby dla DMD we Włoszech wynoszą 35 000-46 000 euro na osobę, a po dodaniu kosztów niematerialnych całkowity koszt sięga 70 000 euro. Średni roczny koszt na pacjenta z DMD był 8-10 razy wyższy niż średnie włoskie wydatki publiczne na zdrowie per capita.1

W badaniu przeprowadzonym w Anglii wykazano, że w przeciętnym roku pacjent z DMD będzie miał około ośmiu kontaktów z podstawową opieką zdrowotną, jedną hospitalizację, dziesięć wizyt ambulatoryjnych i 0,5 kontaktów z oddziałem ratunkowym. Aktywność zasobów obserwowana w kohorcie DMD była znacznym nadmiarem w porównaniu z grupą kontrolną we wszystkich sektorach opieki zdrowotnej.3

Koszty różnią się również w zależności od stadium choroby. W badaniu angielskim raportowano średnie roczne koszty według statusu ambulatoryjnego: 2 931 funtów w fazie ambulatoryjnej, 5 938 funtów w fazie nieambulatoryjnej bez wentylacji oraz 8 748 funtów w fazie nieambulatoryjnej z wentylacją.1

Jakość życia i wyzwania dla pacjentów

Dystrofie mięśniowe, choć różnią się postępowością i nasileniem objawów, mają destrukcyjny wpływ na dziesiątki tysięcy dzieci i dorosłych na całym świecie i nakładają poważne obciążenia fizyczne i ekonomiczne na osoby dotknięte chorobą.3

Dystrofie mięśniowe mają znaczący wpływ na jakość życia nie tylko dla osoby, która doświadcza bolesnych objawów i wynikającej z nich niepełnosprawności, ale także dla członków rodziny i opiekunów.1

Gromadzenie danych przez MD STARnet pomaga zrozumieć doświadczenia osób z dystrofią mięśniową, przebieg choroby i czynniki, które prowadzą do lepszego życia.1 Poprzez śledzenie wizyt medycznych, statusu genetycznego, wieku w momencie diagnozy, leczenia, wykorzystania usług i innych doświadczeń pacjentów, można dowiedzieć się, ile czasu zajmuje lekarzom zdiagnozowanie dystrofii mięśniowej, określić, które interwencje są skuteczne, ocenić wykorzystanie usług i zbadać wiele innych szczegółów dotyczących opieki nad pacjentem.1

Przyszłość nadzoru i badań nad dystrofią mięśniową

Potrzeba lepszych danych epidemiologicznych

Mimo rosnącej liczby badań, nadal istnieje znaczna luka w wysokiej jakości danych epidemiologicznych dotyczących dystrofii mięśniowej. Badania o lepszej jakości są nadal potrzebne, aby w pełni zrozumieć epidemiologię dystrofii mięśniowej Duchenne’a.1

Ogólna jakość badań epidemiologicznych dotyczących DMD była stosunkowo niska, co podkreśla potrzebę wysokiej jakości badań w tej dziedzinie. Badania o wysokiej jakości z bardziej przejrzystym raportowaniem są wymagane, aby lepiej zrozumieć epidemiologię DMD.1

Generowanie dowodów epidemiologicznych dotyczących DMD jest fundamentalne dla wspierania podejmowania decyzji w zakresie zdrowia publicznego. Wysoka heterogeniczność i brak wysokiej jakości badań podkreśla potrzebę prowadzenia lepszej jakości badań nad rzadkimi chorobami.2

Znaczenie badania przesiewowego i wczesnej diagnozy

Ustalenie dokładnej diagnozy genetycznej DMD w młodym wieku jest ważne, ponieważ umożliwia poradnictwo genetyczne i badania nosicieli w rodzinie, diagnostykę prenatalną, wczesny dostęp do leczenia, rozważenie opcji terapeutycznych specyficznych dla mutacji (np. ataluren) lub udział w próbach klinicznych z nowymi badanymi lekami.3

Innowacyjne podejścia do zmniejszenia częstości występowania DMD mogą być lepiej osiągnięte przez badania przesiewowe nosicieli przed poczęciem lub we wczesnej ciąży, sekwencjonowanie eksomowe prenatalne i badania przesiewowe noworodków.1

Nadzór w DMD koncentruje się na wczesnym wykrywaniu powikłań choroby, ale także na zapewnieniu, że specyficzne potrzeby pacjenta są identyfikowane i zarządzane w celu optymalizacji ich statusu fizycznego, społecznego, edukacyjnego i psychologicznego.4

Postępy w leczeniu i opiece

W ostatnich latach nastąpił znaczący rozwój zarówno w opiece klinicznej, jak i badaniach naukowych nad dystrofią mięśniową Duchenne’a.2

Po wdrożeniu zaleceń dotyczących opieki, w tym kortykosteroidów, zarządzania oddechowego i kardiologicznego, interwencji ortopedycznych i rehabilitacji, historia naturalna DMD zmieniła się z szybko postępującego i ograniczającego życie stanu na bardziej przewlekłą chorobę ze wzrostem oczekiwanej długości życia.3

Przedłużone przeżycie jest wynikiem poprawy zarządzania chorobą, prowadzącego do opóźnienia w rozwoju powikłań. Wczesny dostęp do nocnego wsparcia wentylacyjnego był jak dotąd najbardziej udaną interwencją w przedłużaniu przeżycia w DMD.1

Badacze wspierani przez MDA aktywnie rozwijają kilka ekscytujących strategii w DMD, takich jak terapia genowa, pomijanie eksonu, odczytywanie kodonów stop i naprawa genów.1

W ostatnich latach zatwierdzono kilka leków ukierunkowanych na DMD:1

  • We wrześniu 2016 roku FDA przyznała przyspieszoną aprobatę dla eteplirsenu (nazwa handlowa Exondys 51) jako pierwszego leku modyfikującego przebieg choroby w DMD
  • W grudniu 2019 roku FDA zatwierdziła Vyondys 53, lek „pomijający ekson”, który celuje w sekcję DNA nazywaną eksonem 53
  • W sierpniu 2020 roku FDA zatwierdziła Viltepso, kolejny lek „pomijający ekson” celujący w ekson 53

Wyzwania w nadzorze endokrynologicznym

Obecne podejście do endokrynopatii wywołanych steroidami nie spełnia potrzeb społeczności DMD. Ważne jest włączenie endokrynologii do zespołu DMD i uwzględnienie powikłań endokrynologicznych w badaniach klinicznych.1

Chociaż przedłużona ekspozycja na kortykosteroidy jest związana z wieloma skutkami ubocznymi dotyczącymi układu endokrynologicznego, obecne wytyczne dotyczące monitorowania i zarządzania endokrynopatiami są nieoptymalne. Wykazano znaczące luki w edukacji i dostępie do opieki endokrynologicznej u pacjentów z DMD.2

Regularne monitorowanie i nadzór nad powikłaniami endokrynologicznymi powinny stanowić integralną część kompleksowej opieki nad pacjentami z dystrofią mięśniową Duchenne’a, szczególnie w kontekście długotrwałego stosowania kortykosteroidów.3

Kolejne rozdziały

Zapraszamy do dalszego czytania naszego leksykonu.

Wybierz kolejny rozdział z menu poniżej, aby otworzyć nową podstronę kompedium wiedzy i uzyskać szczegółowe informację o leku, substancji lub chorobie.

  1. 09.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Muscular Dystrophy – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK560582/
    Muscular dystrophy is a relatively rare condition, affecting an estimated 1 in every 5,000 to 10,000 individuals worldwide. In the US, approximately 250,000 individuals are estimated to be living with muscular dystrophy or a related neuromuscular disorder. However, obtaining accurate prevalence estimates is challenging due to factors such as the wide range of disease severity, variations in the age of onset, and the complexity of genetic testing required for diagnosis. Furthermore, the prevalence of the disease varies depending on the specific type of muscular dystrophy and the characteristics of the population being studied. […] Duchenne muscular dystrophy is the most common type of muscular dystrophy observed in children, affecting approximately 1 in every 3,500 to 5,000 male births worldwide. Primarily affecting boys, the onset of Duchenne muscular dystrophy typically occurs between the ages of 3 and 5 years. The condition is progressive and ultimately fatal, with most individuals with Duchenne muscular dystrophy surviving into their late teens or early 20s.
  • #1 Muscular Dystrophy: Options for Complication Management
    https://www.uspharmacist.com/article/muscular-dystrophy-options-for-complication-management
    Muscular dystrophy is a genetic, progressive disease with hallmark symptoms of muscle weakness and atrophy. […] There is currently no known cure for muscular dystrophy. […] Early diagnosis and appropriate, timely therapy have been demonstrated to prolong life expectancy in patients with muscular dystrophy. […] The combined prevalence is reported to be between 19.8 and 25.1 cases per 100,000 person-years. […] Duchenne MD (DMD) and Becker MD (BMD) account for more than 80% of all cases, with a reported prevalence of 15.6 per 100,000 boys in Northern England. […] DMD, the most common pediatric neuromuscular disease, has an incidence of about 30 per 100,000 or 1 in every 3,500 to 5,000 newborn boys. […] The prevalence of the congenital forms of MD, as well as dominant and recessive variants, vary by region. […] Data are lacking concerning the global impact of MD as a whole.
  • #1 Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis | Orphanet Journal of Rare Diseases | Full Text
    https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-01430-8
    Duchenne Muscular Dystrophy (DMD) is a rare disorder caused by mutations in the dystrophin gene. A recent systematic review and meta-analysis of global DMD epidemiology is not available. This study aimed to estimate the global overall and birth prevalence of DMD through an updated systematic review of the literature. […] A total of 44 studies reporting the global epidemiology of DMD were included in the systematic review and only 40 were included in the meta-analysis. The pooled global DMD prevalence was 7.1 cases (95% CI: 5.0-10.1) per 100,000 males and 2.8 cases (95% CI: 1.6-4.6) per 100,000 in the general population, while the pooled global DMD birth prevalence was 19.8 (95% CI: 16.6-23.6) per 100,000 live male births. […] Generating epidemiological evidence on DMD is fundamental to support public health decision-making. The high heterogeneity and the lack of high quality studies highlights the need to conduct better quality studies on rare diseases.
  • #1 Incidence of Duchenne muscular dystrophy in the modern era; an Australian study | European Journal of Human Genetics
    https://www.nature.com/articles/s41431-022-01138-2
    Duchenne muscular dystrophy (DMD), an X-linked recessive condition is maternally inherited in two-thirds of affected boys. […] This study investigates disease incidence within an Australian model of cascade screening and evolving genetic diagnostic technologies. […] The cumulative incidence of disease was 19.7 per 100,000 male live births and 1 in 5076 live born males were diagnosed with DMD. […] Differences in disease incidence were not statistically different when compared between 20022007 and 20082012 (incidence rate ratio=1.13, 95% CI 0.761.69, p=0.52). […] The incidence rate ratio of theoretically preventable cases did not significantly change between 20022007 and 20082012 (incidence rate ratio=2.07, 95% CI 0.589.21, p=0.23). […] Current diagnostic and cascade screening models have limitations in their impact on disease incidence, due to a spectrum of logistical, patient and condition related factors.
  • #1
    https://link.springer.com/article/10.1007/s44162-024-00044-z
    This study aimed to describe the prevalence of Duchenne muscular dystrophy (DMD) and associated healthcare resource utilisation and costs from an England perspective. […] The point prevalence of DMD in 2020 was 3.23 per 100,0000 (95% confidence interval [CI] 2.823.63). […] DMD was associated with almost a ten-fold increase in healthcare costs. […] The estimated prevalence of DMD was 3.23 per 100,000 people in the general population and 6.43 per 100,000 males. […] In this study, we estimate that in an average year, a patient with DMD will have approximately eight primary care contacts each year, one inpatient admission, ten outpatient appointments, and 0.5 accident and emergency contacts. […] The resource activity observed for the DMD cohort was a significant excess compared with the control group across every healthcare sector.
  • #1
    https://link.springer.com/article/10.1007/s10654-021-00819-4
    One in five patients with Duchenne muscular dystrophy dies from other causes than cardiac or respiratory failure […] The aim of this nationwide study was to explore the prevalence, life expectancy and leading causes of death in patients with DMD in Sweden. […] Point prevalence of adult patients with DMD on December 31st 2019 was 3.2 per 100,000 adult males. Birth prevalence was 19.2 per 100,000 male births. […] We found that non-cardiopulmonary causes contribute to higher mortality among younger patients with DMD. […] By December 31st 2019, a total of 373 patients born since 1970 with confirmed DMD were identified. […] The DMD population born during the period 19802009, i.e. after removing the first and last study decades as non-representative for the entire DMD population, was estimated at 305 patients, representing a birth prevalence of 19.2 per 100,000 live male births.
  • #1 Duchenne muscular dystrophy in Italy: A systematic review of epidemiology, quality of life, treatment adherence, and economic impact | PLOS One
    https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0287774
    The review also reported a pooled global DMD birth prevalence from 29 studies of 19.8 cases (95% CI:16.623.6) per 100,000 live male births. […] The last included study was the observational study of Mostacciuolo et al. (1993) that updates a previous study above described by using Western blot and DNA analyses as diagnostic criteria. The epidemiological estimates concern the incidence rate in the period 19591968 and the prevalence rate in the year 1980, in five districts of Veneto region. The reported DMD prevalence in the general population is 3.3 per 100,000, while the birth prevalence is 26.0 per 100,000 live male births. […] As for the prevalence in the general population, Italian studies reported a range of 1.73.4 cases per 100,000; this range is in line with the estimated worldwide prevalence of 2.8 per 100,000 resulting from the Crisafulli meta-analysis.
  • #1
    https://link.springer.com/article/10.1007/s10654-021-00819-4
    The median survival was 29.9 years of age (95% CI 27.131.2) with 75% of patients surviving to 23.6 years of age and 25% of patients surviving to 36.5 years of age. […] The most frequent leading cause of death was cardiac complications (41.9%) […] Non-cardiopulmonary complications were the leading causes of death in 20.1% of the patients […] Our study revealed that one in five patients with DMD dies of non-cardiopulmonary causes, and that these causes significantly contribute to higher mortality rates among younger patients with DMD.
  • #1 Muscular Dystrophy – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK560582/
    Becker muscular dystrophy is a milder form resulting from mutations in the same DMD gene. This condition affects approximately 1 in every 18,000 to 30,000 individuals worldwide, predominantly males. Becker muscular dystrophy typically has a later onset and milder course than Duchenne muscular dystrophy, with individuals often able to maintain ambulation into adulthood. […] Limb-girdle muscular dystrophy is a group of inherited muscular dystrophies that primarily impact the muscles of the hip and shoulder girdles. Presently, there are over 30 subtypes of limb-girdle muscular dystrophy, each arising from gene mutations. The prevalence of limb-girdle muscular dystrophy varies based on the specific subtype, but it is estimated to be approximately 1 in every 14,500 to 123,000 individuals worldwide.
  • #1 Becker Muscular Dystrophy | Pediatric Orthopaedic Society of North America (POSNA)
    https://posna.org/physician-education/study-guide/becker-muscular-dystrophy
    Becker muscular dystrophy is a rare disorder and is far less common than Duchenne muscular dystrophy. The incidence of BMD is 1 in 18,518 (or 0.5 per 10,000) male births. The prevalence of BMD varies by country, ranging from 0.13 in South Africa to 7.29 per 100,000 in England. A review of multiple studies found the overall pooled prevalence of BMD among males worldwide was 1.53 per 100,000 (Mah, 2014). […] Becker muscular dystrophy is a rare genetic disorder that results in progressive muscular weakness. The severity and rate of progression of the disease can vary widely from patient to patient. The disease can affect the musculoskeletal, cardiac, pulmonary, and gastrointestinal systems.
  • #1 Limb-Girdle Muscular Dystrophy (LGMD) – Diseases | Muscular Dystrophy Association
    https://www.mda.org/disease/limb-girdle-muscular-dystrophy
    Limb-girdle muscular dystrophy (LGMD) is a diverse group of disorders with many subtypes categorized by disease gene and inheritance. […] Together, the group of disorders that constitute LGMD is the fourth most common genetic cause of muscle weakness with an estimated worldwide prevalence between 0.8 and 6.9 in every 100,000 individuals. Approximately 5000 people are currently living with LGMD in the United States. […] In addition to the known LGMD subtypes linked to specific genes, there are many cases of LGMD for which the causative gene is not yet known (and people with these cases are not identified as having a subtype-specific form of LGMD). Scientists are actively working to understand the causes of these unidentified subtypes of LGMD, because the more we understand about all the different causes of LGMD and the diverse ways that muscle can be compromised, the better chance we have of finding effective therapies to intervene in the pathological process. […] MDA-supported scientists are pursuing several exciting strategies in muscular dystrophy research that have implications for LGMD.
  • #1 Muscular Dystrophy – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK560582/
    Facioscapulohumeral muscular dystrophy is another type of muscular dystrophy that affects approximately 1 in every 20,000 individuals worldwide. Facioscapulohumeral muscular dystrophy typically presents with a later onset and slower progression than other types of muscular dystrophy, with symptoms often emerging in the teenage or adult years. This condition is caused by mutations in the DUX4 gene, which results in inappropriate expression of a toxic protein in muscle cells. […] Muscular dystrophy more commonly affects males than females, as many genetic mutations responsible for the condition are on the X chromosome. However, some forms of muscular dystrophy, such as limb-girdle muscular dystrophy, exhibit an equal prevalence in both males and females.
  • #1 Adult and Adolescent Onset Muscular Dystrophies Part 1: Evaluation and Diagnosis | PM&R KnowledgeNow
    https://now.aapmr.org/adult-and-adolescent-onset-muscular-dystrophies-evaluation-and-diagnosis/
    Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy and is estimated to affect about 1 in 8,000-20,000 in the general population. The prevalence of both DM1 and myotonic dystrophy type 2 (DM2) vary greatly across countries and ethnic groups. […] The overall incidence and prevalence of EDMD is not known but estimates are around 0.4 to 1/100,000. FSHD has an estimated prevalence of between 4 and 10 per 100,000 and is the third most common type of MD after the dystrophinopathies and myotonic dystrophy. […] Approximately 250,000 people in the United States have some form of MD according to Muscular Dystrophy Epidemiology Rare Disease Advisor but the true incidence and prevalence are not clearly known. […] Identifying risk factors other than consanguinity for autosomal recessive conditions and providing primary prevention for patients is difficult due to variable inheritance patterns, possibility of spontaneous mutations, and irregular phenotypic expression.
  • #1 Muscular Dystrophy: Practice Essentials, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/1259041-overview
    The incidence of MD varies, depending on the specific type of MD under consideration. Duchenne MD is the most common MD and is sex-linked, with an inheritance pattern of 1 case per 3500 live male births. […] Becker MD is the second most common form, with an incidence of 1 case per 30,000 live male births. […] The incidence internationally is similar to that of the US for most of the dystrophies, except for the oculopharyngeal type, which is more common in French Canadians than in other groups. […] Distal MD tends to occur in Sweden.
  • #1 Orphanet: Oculopharyngeal muscular dystrophy
    https://www.orpha.net/en/disease/detail/270
    Oculopharyngeal muscular dystrophy (OPMD) occurs worldwide with varying prevalence rates. The estimated prevalence rate in Europe is 1/100,000-200,000. The highest prevalence rate of 1/1,000 is found in French Canadians in Quebec and 1/600 in Israel’s Bukharan Jews. […] OPMD is inherited autosomal dominantly in the vast majority of cases, but can be found recessively in certain regions. Genetic counseling is possible when a PABPN1 mutation has been identified in a family.
  • #1 Muscular Dystrophy Research and Tracking | Muscular Dystrophy | CDC
    https://www.cdc.gov/muscular-dystrophy/research/index.html
    MD STARnet collects critical information on everyone with MD living in specific U.S. areas. Findings from this program can help improve the care and quality of life for those living with the disease. […] The Centers for Disease Control and Prevention (CDC) funds the Muscular Dystrophy Surveillance, Tracking, and Research Network, known as MD STARnet. MD STARnet collects critical information about muscular dystrophy that aims to improve care for those living with the disease. […] MD STARnet is the only program designed to collect health information on everyone with MD living in specific U.S. areas. Most MD research programs collect health information only on people who are treated by specialists at certain medical clinics. In contrast, MD STARnet collects this information from medical clinics, as well as hospitals and birth and death certificates.
  • #1 MD STARnet – Iowa Registry for Congenital and Inherited Disorders
    https://ircid.public-health.uiowa.edu/home/surveillance/md-starnet/
    The Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) is a surveillance program currently active in 7 states (Florida, Iowa, New York, North Carolina, South Carolina, Utah, Virginia) and funded by the Centers for Disease Control and Prevention (CDC). The goals of MD STARnet are to define and describe the MD population in the US, define and describe healthcare needs and outcomes for individuals living with MD, and collect information to guide MD care, treatment, and policy. […] Iowa has participated in MD STARnet since 2002, when the federal MD CARE Act authorized the CDC to create an MD surveillance program. […] On behalf of MD STARnet, IRCID conducts surveillance of Iowans who have been diagnosed with one of eight muscular dystrophies. These de-identified data are pooled with data from the other 6 MD STARnet sites to provide population-based data for research purposes.
  • #1 The Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet): Component A – Core-Current Site
    https://msesiom.demo.elsevierpure.com/en/projects/the-muscular-dystrophy-surveillance-tracking-and-research-network
    Muscular dystrophies are genetic neuromuscular conditions characterized by progressive muscle weakness and degeneration that affect about 1 in 3,300 individuals. […] The Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) provides valuable data on the nine major muscular dystrophies (MD) Duchenne and Becker (DBMD), Myotonic Dystrophy (DM), Congenital (CMD), Limb Girdle (LGMD), Emery-Dreifuss, Facioscapulohumeral, Distal, and Oculopharyngeal but knowledge gaps remain, especially on the impact in minority populations. […] Our aims are to Specific Aim 1: Refine and strengthen longitudinal, population-based surveillance for muscular dystrophy in the Piedmont region of North Carolina. […] We will continue to use the MD STARnet methodology to conduct surveillance on eight major muscular dystrophies, accessing clinic and administrative data and abstracting data on diagnostic testing, family history, neuromuscular symptoms, cardiac and respiratory symptoms, medications, hospitalization and clinical visits, and comorbidities.
  • #1 Muscular Dystrophy Research and Tracking | Muscular Dystrophy | CDC
    https://www.cdc.gov/muscular-dystrophy/research/index.html
    MDSTARnet collects health information on a large number of people from multiple sources. Findings from this program can help improve the care and quality of life for those living with MD. […] CDC and partners hope to answer the following key questions: […] How many people are affected by these types of MD? […] Are certain types more common among specific racial and ethnic groups? […] How does the health of people with MD change over time? […] What health services are patients and their families receiving? […] How do the treatment and services they receive change over time? […] As people with MD become adults, what health services do they receive? […] Does race, ethnicity, education, or location impact access to care? […] Is patient care in line with the most recent clinical guidance? […] What is the pregnancy experience of people affected by MD? […] What are the education and employment experiences of people with MD? […] How common are pain and fatigue and how are they managed?
  • #1 Data Summary: Muscular Dystrophy | Muscular Dystrophy | CDC
    https://www.cdc.gov/muscular-dystrophy/research/summary.html
    The data and statistics on this page come from MD STARnet. Findings from the MD STARnet sites cannot be generalized to the entire United States. […] The tables below show data on males with Duchenne or Becker muscular dystrophy (DBMD) in 10 MD STARnet states or regions. The information was collected during the years 1982-2015. Incomplete records may cause the totals in each table to differ. […] Those who could not be classified as having definite or probable DBMD were excluded. […] About 1 in every 5,000 males aged 5-9 years. […] DMD was three times more prevalent than Becker muscular dystrophy (BMD). […] The median age of survival in males with DMD was 23.7 years. […] Total time from first signs to diagnosis was 2.5 years. […] The average age when boys began taking steroids was 7 years old.
  • #1 Characteristics of Clinical Trial Participants with Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)
    https://www.mdpi.com/2227-9067/8/10/835
    MD STARnet is uniquely positioned to identify and describe those who are not clinical trial participants. Observing differences between clinical trial participants and non-participants is critical in helping us understand possible barriers to participation and maximize generalizability of trial results. MD STARnet is also able to provide population-based information that describes the proportion of the patients within the surveillance areas who are participating in trials, i.e., the degree of saturation of the target population.
  • #1 Characteristics of Clinical Trial Participants with Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)
    https://www.mdpi.com/2227-9067/8/10/835
    Characteristics of Clinical Trial Participants with Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) […] Understanding predictors of clinical trial participation could maximize enrollment. […] Clinical trial participation was identified among 17.9% (MD STARnet site: 3.7–27.3%) of 358 individuals with DMD. […] Understanding characteristics associated with clinical trial participation is critical for identifying participation barriers and generalizability of trial results. MD STARnet is uniquely able to track clinical trial participation through surveillance and describe patterns of participation. […] MD STARnet is a population-based public health surveillance program of nine muscular dystrophies, including dystrophinopathies, funded by the Centers for Disease Control and Prevention.
  • #1 Duchenne Muscular Dystrophy (DMD) Epidemiology Forecast to 2030 for the US, Germany, Spain, Italy, France, UK and Japan – ResearchAndMarkets.com
    https://www.businesswire.com/news/home/20211217005223/en/Duchenne-Muscular-Dystrophy-DMD-Epidemiology-Forecast-to-2030-for-the-US-Germany-Spain-Italy-France-UK-and-Japan—ResearchAndMarkets.com
    Duchenne Muscular Dystrophy (DMD) Epidemiology Forecast to 2030 for the US, Germany, Spain, Italy, France, UK and Japan – ResearchAndMarkets.com […] This report delivers an in-depth understanding of the disease, historical and forecasted Duchenne Muscular Dystrophy (DMD) epidemiology in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom) and Japan. […] The total prevalent population of Duchene muscular dystrophy (DMD) in the 7MM was found to be 30,688 in 2020. Epidemiology assessed for DMD showed that the US, in 2020, accounted for approximately 16,765 prevalent cases of DMD. […] Among the EU-5 countries in 2020, the UK had the highest prevalent population of DMD patients with 2,622 cases, followed by Germany (2,596) and France (2,101). In contrast, Spain had the lowest cases (1,478) in 2020. […] In the United States, in 2020, the highest proportion of age-specific cases were observed in 5-9 years, followed by age groups of 10-14 years and 15-20 years. […] As per the estimates, in the EU5, there were 5,140 and 5,568 cases of ambulatory and non-ambulatory in 2020, respectively. […] Epidemiology assessed for DMD showed that in Japan, 2,571 large mutation and 643 small mutations cases were observed in 2020. […] In the United States, the maximum number of DMD patients affected were 3,185 with Attention-deficit hyperactivity disorder (ADHD), followed by 3,353 with Scoliosis cases, 2,515 with Cardiomyopathy cases, 2,180 with Obsessive-compulsive disorder (OCD) cases in 2020, and several other comorbidities. […] In Japan, the diagnosed prevalence of DMD was 3,214 in 2020 which is expected to rise during the forecast period (2021-2030).
  • #1 What is Duchenne?
    https://cureduchenne.org/about/what-is-duchenne/
    Duchenne impacts around 15,000 individuals in the United States, predominantly males, and over 300,000 globally. […] It is a condition that transcends cultural, economic, and social lines, affecting families worldwide.
  • #1 Muscular Dystrophy Publications – Iowa Registry for Congenital and Inherited Disorders
    https://ircid.public-health.uiowa.edu/home/surveillance/md-starnet/muscular-dystrophy-publications-2/
    Research is a critical part of any strategy to better understand and improve the care of people living with muscular dystrophy. […] The Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet) is a multisite collaboration to determine the prevalence of childhood-onset Duchenne/Becker muscular dystrophy and to characterize health care and health outcomes in this population. […] We used retrospective, population-based surveillance data from the Muscular Dystrophy Surveillance, Tracking and Research Network to evaluate whether prophylaxis delays LVD onset. […] The Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet) is a multisite collaboration to determine the prevalence of childhood-onset Duchenne/Becker muscular dystrophy and to characterize health care and health outcomes in this population. […] We present population-based prevalence estimates for DBMD in 6 US sites. Prevalence differed by race/ethnicity, suggesting potential cultural and socioeconomic influences in the diagnosis of DBMD.
  • #1 Duchenne muscular dystrophy – Wikipedia
    https://en.wikipedia.org/wiki/Duchenne_muscular_dystrophy
    Duchenne muscular dystrophy is the most common type of muscular dystrophy; it affects about one in 5,000 males at birth. […] Duchenne muscular dystrophy has an incidence of one in 3,600 male infants. […] In the US, a 2010 study showed a higher amount of those with Duchenne muscular dystrophy age ranging from 5 to 54 who are Hispanic compared to non-Hispanic Whites, and non-Hispanic Blacks.
  • #1 Duchenne and Becker Muscular Dystrophy | PM&R KnowledgeNow
    https://now.aapmr.org/duchenne-and-becker-muscular-dystrophy/
    The global prevalence of DMD is estimated to be 4.8 in 100,000 people with BMD occurring in 1.6 in 100,000 people. […] There is remarkably little variation with ethnicity. […] The only known risk factor is being born to a female carrier. Sons have a 50% chance of being affected, and daughters a 50% chance of being a carrier. […] Prenatal or pre-implantation diagnosis is possible.
  • #1 State-Of-The-Art Advances in Duchenne Muscular Dystrophy – European Medical Journal
    https://www.emjreviews.com/neurology/article/state-of-the-art-advances-in-duchenne-muscular-dystrophy/
    Duchenne muscular dystrophy (DMD) is the most severe and common muscular dystrophy in children affecting approximately 1 in 3,500-10,000 male births. […] In recent years, there have been significant developments in both clinical care and scientific research in DMD. […] Following the implementation of care recommendations, including corticosteroids, respiratory and cardiac management, orthopaedic intervention, and rehabilitation, the natural history of DMD has changed from a rapidly progressive and life-limiting condition to a more chronic illness with an increase in life expectancy. […] Despite the tremendous advances in the management of DMD for children over the last decade, published data show that there is still a delay in the diagnosis of the condition across different countries.
  • #1 State-Of-The-Art Advances in Duchenne Muscular Dystrophy – European Medical Journal
    https://www.emjreviews.com/neurology/article/state-of-the-art-advances-in-duchenne-muscular-dystrophy/
    The mean age at diagnosis ranges from 4.3-4.1 years and has not significantly improved over the past 20 years. […] Recommendations to lower the age of diagnosis include raising awareness of DMD in the community, primary care to ensure DMD is recognised as a differential diagnosis in children presenting with signs of muscle weakness and/or speech delay, and promoting early CK level testing as a cost-effective, readily available screening tool for DMD. […] Establishing an accurate genetic diagnosis of DMD at a young age is important as it allows genetic counselling and family carrier testing, prenatal diagnosis, early access to treatment, consideration for mutation specific therapeutic options (e.g. ataluren), or participation in clinical trials with new investigational drugs. […] Surveillance in DMD is centred around early detection of disease complications but also ensuring that patient-specific needs are identified and managed in order to optimise their physical, social, educational, and psychological status.
  • #1 Delayed diagnosis in duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).
    https://vivo.weill.cornell.edu/display/pubid19394035
    OBJECTIVE: To identify key factors for the delay in diagnosis of Duchenne muscular dystrophy (DMD) without known family history. […] The cohort comes from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet), a multistate, multiple-source, population-based surveillance system that identifies and gathers information on all cases of Duchenne and Becker muscular dystrophy born since 1982. […] There is a delay of about 2.5 years between onset of DMD symptoms and the time of definitive diagnosis, unchanged over the previous 2 decades. […] This delay results in lost opportunities for timely genetic counseling and initiation of corticosteroid treatment.
  • #1 Duchenne muscular dystrophy in Italy: A systematic review of epidemiology, quality of life, treatment adherence, and economic impact | PLOS One
    https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0287774
    As for the birth prevalence, the Italian studies reported a range of 21.728.2 per 100,000 live male births; this range is slightly higher than the estimated worldwide birth prevalence of 19.8/100,000 live male births, but with overlapping confidence intervals. […] The average annual cost of illness for DMD in Italy is 35,00046,000 per capita while, adding intangible costs, the total cost amounts to 70,000. […] The average annual cost per DMD patient was 810 times higher than the average Italian public health expenditure per capita.
  • #1
    https://link.springer.com/article/10.1007/s44162-024-00044-z
    A similar magnitude was observed by Thayer and colleagues who reported a ten-fold excess in healthcare costs whilst Landfeldt and colleagues reported direct costs for patients with DMD were sixteen times greater than of mean per-capita health expenditure in the United Kingdom. […] In our study, we reported mean annual costs by the ambulatory status of 2931 in the ambulatory phase, 5938 in the non-ambulatory without-ventilation phase, and 8748 in the non-ambulatory with ventilation phase.
  • #1 42 U.S. Code § 247b-18 – Surveillance and research regarding muscular dystrophy | U.S. Code | US Law | LII / Legal Information Institute
    https://www.law.cornell.edu/uscode/text/42/247b-18
    The Secretary may provide health outcome data on the health and survival of people with muscular dystrophy. […] Each of the muscular dystrophies, though distinct in progressivity and severity of symptoms, have a devastating impact on tens of thousands of children and adults throughout the United States and worldwide and impose severe physical and economic burdens on those affected. […] Muscular dystrophies have a significant impact on quality of life not only for the individual who experiences its painful symptoms and resulting disability, but also for family members and caregivers.
  • #1 MD STARnet – Iowa Registry for Congenital and Inherited Disorders
    https://ircid.public-health.uiowa.edu/home/surveillance/md-starnet/
    MD STARnet is the only research program designed to collect health information on individuals with muscular dystrophy living in specific areas of the United States. The more we know about the experiences of people with muscular dystrophy, the more we can learn about the course of the disease and what leads to a better life.
  • #1 MD STARnet for Surveillance of Muscular Dystrophy | RTI
    https://www.rti.org/impact/md-starnet-surveillance-muscular-dystrophy
    By following these patients medical visits, genetic status, age at diagnosis, treatments and service utilization, side effects, and other experiences, combined with their demographics, we can learn how long it takes for doctors to diagnose muscular dystrophy, determine which interventions are effective, assess service utilization, and explore many other details about patient care. […] The ultimate goal of MD STARnet is to better understand muscular dystrophies and improve care for individuals and their families, now and in the future. […] By including a racially and ethnically diverse portion of North Carolina in the study, we will be able to assess whether there are differences in the presentation and progression of the disorder, and evaluate for disparities in access to care for muscular dystrophy patients. […] In all populations, the data will help understand variations in care, delays in diagnosis, and impact of muscular dystrophies and related disorders on patients and families.
  • #1 Researchers Try to Update Prevalence of Duchenne Muscular Dystrophy
    https://www.ajmc.com/view/researchers-try-to-update-prevalence-of-duchenne-muscular-dystrophy
    Studies with better data are still needed to fully understand the epidemiology of Duchenne muscular dystrophy (DMD), according to a recently published review. […] An updated systematic literature review sought to update what is known about the prevalence of Duchenne muscular dystrophy (DMD) as well as examine the quality of the studies of this rare disease. […] The pooled global prevalence of patients with DMD was 7.1 cases (95% CI, 5.0-10.1) per 100,000 men and lower in the general population of males and females: 2.8 cases (95% CI, 1.6-4.6) per 100,000. […] The pooled global birth prevalence for patients with DMD was 19.8 cases (95% CI, 16.6-23.6) per 100,000 live male births, with a large amount of heterogeneity seen among these studies. […] The authors noted that of the 29 studies reporting DMD birth prevalence, 37.9% (11) studies were based on primary data collection, using questionnaires, blood samples analysis, muscle biopsy, and genetic screening.
  • #1 Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis | Orphanet Journal of Rare Diseases | Full Text
    https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-01430-8
    The pooled global prevalence and birth prevalence of DMD were 7.1 (95% CI: 5.0-10.1) and 19.8 (95% CI: 16.6-23.6) per 100,000 males, respectively. […] The overall quality of epidemiological studies on DMD was relatively low, highlighting the need for high quality studies in this field. High quality studies with more transparent reporting are required to better understand the epidemiology of DMD.
  • #1 Incidence of Duchenne muscular dystrophy in the modern era; an Australian study | European Journal of Human Genetics
    https://www.nature.com/articles/s41431-022-01138-2
    Innovative approaches to reduce DMD incidence may be better achieved by preconception or early pregnancy carrier screening, prenatal exome sequencing and newborn screening. […] A state-specific Australian incidence study in the 1970s concluded that cascade screening alone was insufficient to reduce incidence rates significantly. […] Internationally, only three epidemiological studies spanning Europe and USA have been conducted from 2002 onwards for DMD, with no recent Australasian specific studies pertaining to the last decade. […] Ascertaining current disease incidence will elucidate whether cascade screening goes far enough to inform reproductive choice, facilitates the interpretation of the impact of new models of genetic screening and the utility of novel diagnostic tools and serves as a foundation on which to understand the epidemiological effects of emerging disease modifying treatments and improved standards of care in DMD.
  • #1 State-Of-The-Art Advances in Duchenne Muscular Dystrophy – European Medical Journal
    https://www.emjreviews.com/neurology/article/state-of-the-art-advances-in-duchenne-muscular-dystrophy/
    The best practice of care in DMD has been translated into 30 different languages and a summary outlining the imperatives in DMD care has recently been published to facilitate optimal care to families living with DMD worldwide. […] A recent survey has shown an unexpected discrepancy between the published recommendations and care provision as reported by patients and families across different countries. […] The prolonged survival is the result of improved disease management leading to a delay in the development of complications. […] Early access to overnight ventilatory support has been the most successful intervention so far in prolonging survival in DMD. […] The rapid development of research in DMD has raised concerns on feasibility of multiple clinical trials in rare diseases where the patient population is limited, especially for targeted approaches. […] The experience built over the last 20 years in DMD (implementation of diagnosis, dissemination of care recommendations, acquiring essential natural history data, and delivery of clinical research with investigational drugs) is likely to be of extreme value for the future of DMD patients.
  • #1 Duchenne Muscular Dystrophy (DMD) – Diseases | Muscular Dystrophy Association
    https://www.mda.org/disease/duchenne-muscular-dystrophy
    Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness due to the alterations of a protein called dystrophin that helps keep muscle cells intact. […] In Europe and North America, the prevalence of DMD is approximately 6 per 100,000 individuals. […] DMD has an X-linked recessive inheritance pattern and is passed on by the mother, who is referred to as a carrier. […] DMD carriers are females who have a normal dystrophin gene on one X chromosome and an abnormal dystrophin gene on the other X chromosome. […] Until relatively recently, boys with DMD usually did not survive much beyond their teen years. […] Survival into the early 30s is becoming more common than before. […] MDA-supported researchers are actively pursuing several exciting strategies in DMD, such as gene therapy, exon skipping, stop codon read-through and gene repair.
  • #1 Duchenne Muscular Dystrophy (DMD) – Diseases | Muscular Dystrophy Association
    https://www.mda.org/disease/duchenne-muscular-dystrophy
    On Sept. 19, 2016, the U.S. Food and Drug Administration (FDA) granted accelerated approval to eteplirsen (brand name Exondys 51) as the first disease-modifying drug for DMD. […] In December 2019, Vyondys 53, an „exon skipping” drug that targets a section of DNA called exon 53 was approved by the FDA for treatment of individuals who have a confirmed mutation of the DMD gene that is amenable to a therapeutic strategy called exon 53 skipping and may help up to 8% of individuals with DMD. […] In August 2020, Viltepso, an „exon skipping” drug that targets a section of DNA called exon 53. was approved by the FDA for treatment of individuals who have a confirmed mutation of the DMD gene that is amenable to a therapeutic strategy called exon 53 skipping and may help up to 8% of individuals with DMD.
  • #1 Is endocrine surveillance important in the care of Duchenne Muscular Dystrophy?
    https://wfneurology.org/activities/news-events/archived-news/2024-07-24-ens-editors-choice-endocrine-surveillance
    Current approach to steroid induced endocrinopathies does not meet the needs of the DMD community. […] Important to include endocrinology in DMD team and endocrine complications in clinical trials. […] Although prolonged exposure is associated with multiple endocrine side effects, current guidelines related to monitoring and management of endocrinopathies are suboptimal. […] This demonstrates significant gaps in education and access to endocrine care in patients with DMD.
  • #2 MD STARnet for Surveillance of Muscular Dystrophy | RTI
    https://www.rti.org/impact/md-starnet-surveillance-muscular-dystrophy
    Muscular dystrophies are an extensive group of heterogeneous genetic neuromuscular conditions characterized by muscle weakness and degeneration. […] Although management of neuromuscular disorders has advanced in recent decades, allowing some patients to live longer, public health researchers have much to learn about the experience of people living with muscular dystrophy across America. […] The National Center on Birth Defects and Developmental Disabilities, part of the federal Centers for Disease Control and Prevention, collects information about patients with muscular dystrophy in different parts of the country as part of its efforts to better understand the impact of the disorder. […] MD STARnet is population-based, meaning that it covers virtually all patients with muscular dystrophy in each geographic area.
  • #2 Muscular Dystrophy: Options for Complication Management
    https://www.uspharmacist.com/article/muscular-dystrophy-options-for-complication-management
    Muscular dystrophy is a genetic, progressive disease with hallmark symptoms of muscle weakness and atrophy. […] There is currently no known cure for muscular dystrophy. […] Early diagnosis and appropriate, timely therapy have been demonstrated to prolong life expectancy in patients with muscular dystrophy. […] The combined prevalence is reported to be between 19.8 and 25.1 cases per 100,000 person-years. […] Duchenne MD (DMD) and Becker MD (BMD) account for more than 80% of all cases, with a reported prevalence of 15.6 per 100,000 boys in Northern England. […] DMD, the most common pediatric neuromuscular disease, has an incidence of about 30 per 100,000 or 1 in every 3,500 to 5,000 newborn boys. […] The prevalence of the congenital forms of MD, as well as dominant and recessive variants, vary by region. […] Data are lacking concerning the global impact of MD as a whole.
  • #2 Muscular Dystrophy – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK560582/
    Muscular dystrophy is a relatively rare condition, affecting an estimated 1 in every 5,000 to 10,000 individuals worldwide. In the US, approximately 250,000 individuals are estimated to be living with muscular dystrophy or a related neuromuscular disorder. However, obtaining accurate prevalence estimates is challenging due to factors such as the wide range of disease severity, variations in the age of onset, and the complexity of genetic testing required for diagnosis. Furthermore, the prevalence of the disease varies depending on the specific type of muscular dystrophy and the characteristics of the population being studied. […] Duchenne muscular dystrophy is the most common type of muscular dystrophy observed in children, affecting approximately 1 in every 3,500 to 5,000 male births worldwide. Primarily affecting boys, the onset of Duchenne muscular dystrophy typically occurs between the ages of 3 and 5 years. The condition is progressive and ultimately fatal, with most individuals with Duchenne muscular dystrophy surviving into their late teens or early 20s.
  • #2 42 USC 247b-18: Surveillance and research regarding muscular dystrophy
    https://uscode.house.gov/view.xhtml?req=(title:42%20section:247b-18%20edition:prelim)
    The Secretary shall ensure that epidemiological information under subsections (a) and (b) is made available to centers of excellence supported under section 283g(b) of this title by the Director of the National Institutes of Health. […] The Secretary may provide health outcome data on the health and survival of people with muscular dystrophy. […] Duchenne Muscular Dystrophy (DMD) is the world’s most common and catastrophic form of genetic childhood disease, and is characterized by a rapidly progressive muscle weakness that almost always results in death, usually by 20 years of age. […] Duchenne is the most common lethal genetic disorder of childhood worldwide, affecting approximately 1 in every 3,500 boys worldwide. […] Each of the muscular dystrophies, though distinct in progressivity and severity of symptoms, have a devastating impact on tens of thousands of children and adults throughout the United States and worldwide and impose severe physical and economic burdens on those affected. […] Muscular dystrophies have a significant impact on quality of life-not only for the individual who experiences its painful symptoms and resulting disability, but also for family members and caregivers.
  • #2 Duchenne muscular dystrophy in Italy: A systematic review of epidemiology, quality of life, treatment adherence, and economic impact | PLOS One
    https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0287774
    This systematic review aims to update the evidence on Duchenne muscular dystrophy (DMD) in Italy, describing the epidemiology, quality of life (QoL) of patients and caregivers, treatment adherence, and economic impact of DMD. […] The prevalence of DMD in the general population is 1.73.4 cases per 100,000, while the birth prevalence is 21.728.2 per 100,000 live male births. […] This systematic review aims to estimate the burden of DMD in Italy, investigating its epidemiology, the quality of life of DMD patients and their caregivers, the adherence to different treatment/management strategies, and the economic impact of disease. […] We included 3 studies: a systematic review and meta-analysis, a systematic review, and an observational prevalence study. […] The systematic review of Crisafulli et al. reported a pooled global DMD prevalence from 22 studies of 7.1 cases (95% CI: 5.010.1) per 100,000 males and 2.8 cases (95% CI: 1.64.6) per 100,000 in the general population.
  • #2 Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis | Orphanet Journal of Rare Diseases | Full Text
    https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-01430-8
    Duchenne Muscular Dystrophy (DMD) is a rare disorder caused by mutations in the dystrophin gene. A recent systematic review and meta-analysis of global DMD epidemiology is not available. This study aimed to estimate the global overall and birth prevalence of DMD through an updated systematic review of the literature. […] A total of 44 studies reporting the global epidemiology of DMD were included in the systematic review and only 40 were included in the meta-analysis. The pooled global DMD prevalence was 7.1 cases (95% CI: 5.0-10.1) per 100,000 males and 2.8 cases (95% CI: 1.6-4.6) per 100,000 in the general population, while the pooled global DMD birth prevalence was 19.8 (95% CI: 16.6-23.6) per 100,000 live male births. […] Generating epidemiological evidence on DMD is fundamental to support public health decision-making. The high heterogeneity and the lack of high quality studies highlights the need to conduct better quality studies on rare diseases.
  • #2 Becker Muscular Dystrophy: Practice Essentials, Pathophysiology, Epidemiology
    https://emedicine.medscape.com/article/313417-overview
    The incidence and prevalence of BMD are lower than those of DMD. The estimated incidence of BMD is 1 individual per 30,000 male births, compared with 1 individual per 3500 male births for DMD. The prevalence of BMD is 17-27 cases per 1 million population. […] The international incidence is probably similar to that in the United States. […] A series by Emery and Skinner showed the mean age for symptom onset to be 11 years, with the age range for onset being 2-21 years. The mean age at which affected patients described in the studies became nonambulatory was 27 years, with an age range of 12-30 years. Death usually resulted from respiratory or cardiac failure at a mean age of 42 years, with the age range being 23-63 years. […] BMD is an X-linked disorder. Given the transmission pattern, the disease affects primarily males. Translocations may allow the possibility of a female presentation of the BMD phenotype. […] The onset of symptoms occurs at a mean age of 11 years, with the age range for onset being 2-21 years.
  • #2 Muscular Dystrophy – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK560582/
    Becker muscular dystrophy is a milder form resulting from mutations in the same DMD gene. This condition affects approximately 1 in every 18,000 to 30,000 individuals worldwide, predominantly males. Becker muscular dystrophy typically has a later onset and milder course than Duchenne muscular dystrophy, with individuals often able to maintain ambulation into adulthood. […] Limb-girdle muscular dystrophy is a group of inherited muscular dystrophies that primarily impact the muscles of the hip and shoulder girdles. Presently, there are over 30 subtypes of limb-girdle muscular dystrophy, each arising from gene mutations. The prevalence of limb-girdle muscular dystrophy varies based on the specific subtype, but it is estimated to be approximately 1 in every 14,500 to 123,000 individuals worldwide.
  • #2 Adult and Adolescent Onset Muscular Dystrophies Part 1: Evaluation and Diagnosis | PM&R KnowledgeNow
    https://now.aapmr.org/adult-and-adolescent-onset-muscular-dystrophies-evaluation-and-diagnosis/
    Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy and is estimated to affect about 1 in 8,000-20,000 in the general population. The prevalence of both DM1 and myotonic dystrophy type 2 (DM2) vary greatly across countries and ethnic groups. […] The overall incidence and prevalence of EDMD is not known but estimates are around 0.4 to 1/100,000. FSHD has an estimated prevalence of between 4 and 10 per 100,000 and is the third most common type of MD after the dystrophinopathies and myotonic dystrophy. […] Approximately 250,000 people in the United States have some form of MD according to Muscular Dystrophy Epidemiology Rare Disease Advisor but the true incidence and prevalence are not clearly known. […] Identifying risk factors other than consanguinity for autosomal recessive conditions and providing primary prevention for patients is difficult due to variable inheritance patterns, possibility of spontaneous mutations, and irregular phenotypic expression.
  • #2 Oculopharyngeal Muscular Dystrophy – EyeWiki
    https://eyewiki.org/Oculopharyngeal_Muscular_Dystrophy
    The largest cluster of OPMD is in Qubec, Canada, but cases have been observed in over 30 countries. […] Qubecs French-Canadian population has an OPMD frequency of 1/1000, while Israels Burkhara Jewish population have the worlds highest gene frequency with 1/600 affected.
  • #2 Muscular Dystrophy Research and Tracking | Muscular Dystrophy | CDC
    https://www.cdc.gov/muscular-dystrophy/research/index.html
    MD STARnet collects critical information on everyone with MD living in specific U.S. areas. Findings from this program can help improve the care and quality of life for those living with the disease. […] The Centers for Disease Control and Prevention (CDC) funds the Muscular Dystrophy Surveillance, Tracking, and Research Network, known as MD STARnet. MD STARnet collects critical information about muscular dystrophy that aims to improve care for those living with the disease. […] MD STARnet is the only program designed to collect health information on everyone with MD living in specific U.S. areas. Most MD research programs collect health information only on people who are treated by specialists at certain medical clinics. In contrast, MD STARnet collects this information from medical clinics, as well as hospitals and birth and death certificates.
  • #2 Data Summary: Muscular Dystrophy | Muscular Dystrophy | CDC
    https://www.cdc.gov/muscular-dystrophy/research/summary.html
    Between about 1/2 and 2/3 of males with DBMD had taken steroids. […] The proportion of males with DBMD who used a wheelchair varied by age: About 3 in 10 males with DBMD ages 5 to 9 years used a wheelchair. […] More than 4 in 10 had a mental health concern. […] Behavioral concerns were twice as common in those who took steroids. […] Depression affected those not walking 3 times more than those walking.
  • #2 Duchenne Muscular Dystrophy (DMD) Epidemiology Forecast to 2030 for the US, Germany, Spain, Italy, France, UK and Japan – ResearchAndMarkets.com
    https://www.businesswire.com/news/home/20211217005223/en/Duchenne-Muscular-Dystrophy-DMD-Epidemiology-Forecast-to-2030-for-the-US-Germany-Spain-Italy-France-UK-and-Japan—ResearchAndMarkets.com
    Duchenne Muscular Dystrophy (DMD) Epidemiology Forecast to 2030 for the US, Germany, Spain, Italy, France, UK and Japan – ResearchAndMarkets.com […] This report delivers an in-depth understanding of the disease, historical and forecasted Duchenne Muscular Dystrophy (DMD) epidemiology in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom) and Japan. […] The total prevalent population of Duchene muscular dystrophy (DMD) in the 7MM was found to be 30,688 in 2020. Epidemiology assessed for DMD showed that the US, in 2020, accounted for approximately 16,765 prevalent cases of DMD. […] Among the EU-5 countries in 2020, the UK had the highest prevalent population of DMD patients with 2,622 cases, followed by Germany (2,596) and France (2,101). In contrast, Spain had the lowest cases (1,478) in 2020. […] In the United States, in 2020, the highest proportion of age-specific cases were observed in 5-9 years, followed by age groups of 10-14 years and 15-20 years. […] As per the estimates, in the EU5, there were 5,140 and 5,568 cases of ambulatory and non-ambulatory in 2020, respectively. […] Epidemiology assessed for DMD showed that in Japan, 2,571 large mutation and 643 small mutations cases were observed in 2020. […] In the United States, the maximum number of DMD patients affected were 3,185 with Attention-deficit hyperactivity disorder (ADHD), followed by 3,353 with Scoliosis cases, 2,515 with Cardiomyopathy cases, 2,180 with Obsessive-compulsive disorder (OCD) cases in 2020, and several other comorbidities. […] In Japan, the diagnosed prevalence of DMD was 3,214 in 2020 which is expected to rise during the forecast period (2021-2030).
  • #2 State-Of-The-Art Advances in Duchenne Muscular Dystrophy – European Medical Journal
    https://www.emjreviews.com/neurology/article/state-of-the-art-advances-in-duchenne-muscular-dystrophy/
    The mean age at diagnosis ranges from 4.3-4.1 years and has not significantly improved over the past 20 years. […] Recommendations to lower the age of diagnosis include raising awareness of DMD in the community, primary care to ensure DMD is recognised as a differential diagnosis in children presenting with signs of muscle weakness and/or speech delay, and promoting early CK level testing as a cost-effective, readily available screening tool for DMD. […] Establishing an accurate genetic diagnosis of DMD at a young age is important as it allows genetic counselling and family carrier testing, prenatal diagnosis, early access to treatment, consideration for mutation specific therapeutic options (e.g. ataluren), or participation in clinical trials with new investigational drugs. […] Surveillance in DMD is centred around early detection of disease complications but also ensuring that patient-specific needs are identified and managed in order to optimise their physical, social, educational, and psychological status.
  • #2
    https://link.springer.com/article/10.1007/s44162-024-00044-z
    This study aimed to describe the prevalence of Duchenne muscular dystrophy (DMD) and associated healthcare resource utilisation and costs from an England perspective. […] The point prevalence of DMD in 2020 was 3.23 per 100,0000 (95% confidence interval [CI] 2.823.63). […] DMD was associated with almost a ten-fold increase in healthcare costs. […] The estimated prevalence of DMD was 3.23 per 100,000 people in the general population and 6.43 per 100,000 males. […] In this study, we estimate that in an average year, a patient with DMD will have approximately eight primary care contacts each year, one inpatient admission, ten outpatient appointments, and 0.5 accident and emergency contacts. […] The resource activity observed for the DMD cohort was a significant excess compared with the control group across every healthcare sector.
  • #2 State-Of-The-Art Advances in Duchenne Muscular Dystrophy – European Medical Journal
    https://www.emjreviews.com/neurology/article/state-of-the-art-advances-in-duchenne-muscular-dystrophy/
    Duchenne muscular dystrophy (DMD) is the most severe and common muscular dystrophy in children affecting approximately 1 in 3,500-10,000 male births. […] In recent years, there have been significant developments in both clinical care and scientific research in DMD. […] Following the implementation of care recommendations, including corticosteroids, respiratory and cardiac management, orthopaedic intervention, and rehabilitation, the natural history of DMD has changed from a rapidly progressive and life-limiting condition to a more chronic illness with an increase in life expectancy. […] Despite the tremendous advances in the management of DMD for children over the last decade, published data show that there is still a delay in the diagnosis of the condition across different countries.
  • #2 Is endocrine surveillance important in the care of Duchenne Muscular Dystrophy?
    https://wfneurology.org/activities/news-events/archived-news/2024-07-24-ens-editors-choice-endocrine-surveillance
    Current approach to steroid induced endocrinopathies does not meet the needs of the DMD community. […] Important to include endocrinology in DMD team and endocrine complications in clinical trials. […] Although prolonged exposure is associated with multiple endocrine side effects, current guidelines related to monitoring and management of endocrinopathies are suboptimal. […] This demonstrates significant gaps in education and access to endocrine care in patients with DMD.
  • #3 Muscular Dystrophy – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK560582/
    Muscular dystrophy is a relatively rare condition, affecting an estimated 1 in every 5,000 to 10,000 individuals worldwide. In the US, approximately 250,000 individuals are estimated to be living with muscular dystrophy or a related neuromuscular disorder. However, obtaining accurate prevalence estimates is challenging due to factors such as the wide range of disease severity, variations in the age of onset, and the complexity of genetic testing required for diagnosis. Furthermore, the prevalence of the disease varies depending on the specific type of muscular dystrophy and the characteristics of the population being studied. […] Duchenne muscular dystrophy is the most common type of muscular dystrophy observed in children, affecting approximately 1 in every 3,500 to 5,000 male births worldwide. Primarily affecting boys, the onset of Duchenne muscular dystrophy typically occurs between the ages of 3 and 5 years. The condition is progressive and ultimately fatal, with most individuals with Duchenne muscular dystrophy surviving into their late teens or early 20s.
  • #3 Becker Muscular Dystrophy: Practice Essentials, Pathophysiology, Epidemiology
    https://emedicine.medscape.com/article/313417-overview
    The incidence and prevalence of BMD are lower than those of DMD. The estimated incidence of BMD is 1 individual per 30,000 male births, compared with 1 individual per 3500 male births for DMD. The prevalence of BMD is 17-27 cases per 1 million population. […] The international incidence is probably similar to that in the United States. […] A series by Emery and Skinner showed the mean age for symptom onset to be 11 years, with the age range for onset being 2-21 years. The mean age at which affected patients described in the studies became nonambulatory was 27 years, with an age range of 12-30 years. Death usually resulted from respiratory or cardiac failure at a mean age of 42 years, with the age range being 23-63 years. […] BMD is an X-linked disorder. Given the transmission pattern, the disease affects primarily males. Translocations may allow the possibility of a female presentation of the BMD phenotype. […] The onset of symptoms occurs at a mean age of 11 years, with the age range for onset being 2-21 years.
  • #3 Adult and Adolescent Onset Muscular Dystrophies Part 1: Evaluation and Diagnosis | PM&R KnowledgeNow
    https://now.aapmr.org/adult-and-adolescent-onset-muscular-dystrophies-evaluation-and-diagnosis/
    Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy and is estimated to affect about 1 in 8,000-20,000 in the general population. The prevalence of both DM1 and myotonic dystrophy type 2 (DM2) vary greatly across countries and ethnic groups. […] The overall incidence and prevalence of EDMD is not known but estimates are around 0.4 to 1/100,000. FSHD has an estimated prevalence of between 4 and 10 per 100,000 and is the third most common type of MD after the dystrophinopathies and myotonic dystrophy. […] Approximately 250,000 people in the United States have some form of MD according to Muscular Dystrophy Epidemiology Rare Disease Advisor but the true incidence and prevalence are not clearly known. […] Identifying risk factors other than consanguinity for autosomal recessive conditions and providing primary prevention for patients is difficult due to variable inheritance patterns, possibility of spontaneous mutations, and irregular phenotypic expression.
  • #3 Duchenne Muscular Dystrophy (DMD) Epidemiology Forecast to 2030 for the US, Germany, Spain, Italy, France, UK and Japan – ResearchAndMarkets.com
    https://www.businesswire.com/news/home/20211217005223/en/Duchenne-Muscular-Dystrophy-DMD-Epidemiology-Forecast-to-2030-for-the-US-Germany-Spain-Italy-France-UK-and-Japan—ResearchAndMarkets.com
    Duchenne Muscular Dystrophy (DMD) Epidemiology Forecast to 2030 for the US, Germany, Spain, Italy, France, UK and Japan – ResearchAndMarkets.com […] This report delivers an in-depth understanding of the disease, historical and forecasted Duchenne Muscular Dystrophy (DMD) epidemiology in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom) and Japan. […] The total prevalent population of Duchene muscular dystrophy (DMD) in the 7MM was found to be 30,688 in 2020. Epidemiology assessed for DMD showed that the US, in 2020, accounted for approximately 16,765 prevalent cases of DMD. […] Among the EU-5 countries in 2020, the UK had the highest prevalent population of DMD patients with 2,622 cases, followed by Germany (2,596) and France (2,101). In contrast, Spain had the lowest cases (1,478) in 2020. […] In the United States, in 2020, the highest proportion of age-specific cases were observed in 5-9 years, followed by age groups of 10-14 years and 15-20 years. […] As per the estimates, in the EU5, there were 5,140 and 5,568 cases of ambulatory and non-ambulatory in 2020, respectively. […] Epidemiology assessed for DMD showed that in Japan, 2,571 large mutation and 643 small mutations cases were observed in 2020. […] In the United States, the maximum number of DMD patients affected were 3,185 with Attention-deficit hyperactivity disorder (ADHD), followed by 3,353 with Scoliosis cases, 2,515 with Cardiomyopathy cases, 2,180 with Obsessive-compulsive disorder (OCD) cases in 2020, and several other comorbidities. […] In Japan, the diagnosed prevalence of DMD was 3,214 in 2020 which is expected to rise during the forecast period (2021-2030).
  • #3
    https://link.springer.com/article/10.1007/s44162-024-00044-z
    This study aimed to describe the prevalence of Duchenne muscular dystrophy (DMD) and associated healthcare resource utilisation and costs from an England perspective. […] The point prevalence of DMD in 2020 was 3.23 per 100,0000 (95% confidence interval [CI] 2.823.63). […] DMD was associated with almost a ten-fold increase in healthcare costs. […] The estimated prevalence of DMD was 3.23 per 100,000 people in the general population and 6.43 per 100,000 males. […] In this study, we estimate that in an average year, a patient with DMD will have approximately eight primary care contacts each year, one inpatient admission, ten outpatient appointments, and 0.5 accident and emergency contacts. […] The resource activity observed for the DMD cohort was a significant excess compared with the control group across every healthcare sector.
  • #3 42 USC 247b-18: Surveillance and research regarding muscular dystrophy
    https://uscode.house.gov/view.xhtml?req=(title:42%20section:247b-18%20edition:prelim)
    The Secretary shall ensure that epidemiological information under subsections (a) and (b) is made available to centers of excellence supported under section 283g(b) of this title by the Director of the National Institutes of Health. […] The Secretary may provide health outcome data on the health and survival of people with muscular dystrophy. […] Duchenne Muscular Dystrophy (DMD) is the world’s most common and catastrophic form of genetic childhood disease, and is characterized by a rapidly progressive muscle weakness that almost always results in death, usually by 20 years of age. […] Duchenne is the most common lethal genetic disorder of childhood worldwide, affecting approximately 1 in every 3,500 boys worldwide. […] Each of the muscular dystrophies, though distinct in progressivity and severity of symptoms, have a devastating impact on tens of thousands of children and adults throughout the United States and worldwide and impose severe physical and economic burdens on those affected. […] Muscular dystrophies have a significant impact on quality of life-not only for the individual who experiences its painful symptoms and resulting disability, but also for family members and caregivers.
  • #3 State-Of-The-Art Advances in Duchenne Muscular Dystrophy – European Medical Journal
    https://www.emjreviews.com/neurology/article/state-of-the-art-advances-in-duchenne-muscular-dystrophy/
    The mean age at diagnosis ranges from 4.3-4.1 years and has not significantly improved over the past 20 years. […] Recommendations to lower the age of diagnosis include raising awareness of DMD in the community, primary care to ensure DMD is recognised as a differential diagnosis in children presenting with signs of muscle weakness and/or speech delay, and promoting early CK level testing as a cost-effective, readily available screening tool for DMD. […] Establishing an accurate genetic diagnosis of DMD at a young age is important as it allows genetic counselling and family carrier testing, prenatal diagnosis, early access to treatment, consideration for mutation specific therapeutic options (e.g. ataluren), or participation in clinical trials with new investigational drugs. […] Surveillance in DMD is centred around early detection of disease complications but also ensuring that patient-specific needs are identified and managed in order to optimise their physical, social, educational, and psychological status.
  • #3 State-Of-The-Art Advances in Duchenne Muscular Dystrophy – European Medical Journal
    https://www.emjreviews.com/neurology/article/state-of-the-art-advances-in-duchenne-muscular-dystrophy/
    Duchenne muscular dystrophy (DMD) is the most severe and common muscular dystrophy in children affecting approximately 1 in 3,500-10,000 male births. […] In recent years, there have been significant developments in both clinical care and scientific research in DMD. […] Following the implementation of care recommendations, including corticosteroids, respiratory and cardiac management, orthopaedic intervention, and rehabilitation, the natural history of DMD has changed from a rapidly progressive and life-limiting condition to a more chronic illness with an increase in life expectancy. […] Despite the tremendous advances in the management of DMD for children over the last decade, published data show that there is still a delay in the diagnosis of the condition across different countries.
  • #3 Is endocrine surveillance important in the care of Duchenne Muscular Dystrophy?
    https://wfneurology.org/activities/news-events/archived-news/2024-07-24-ens-editors-choice-endocrine-surveillance
    Current approach to steroid induced endocrinopathies does not meet the needs of the DMD community. […] Important to include endocrinology in DMD team and endocrine complications in clinical trials. […] Although prolonged exposure is associated with multiple endocrine side effects, current guidelines related to monitoring and management of endocrinopathies are suboptimal. […] This demonstrates significant gaps in education and access to endocrine care in patients with DMD.
  • #4 Muscular Dystrophy – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK560582/
    Muscular dystrophy is a relatively rare condition, affecting an estimated 1 in every 5,000 to 10,000 individuals worldwide. In the US, approximately 250,000 individuals are estimated to be living with muscular dystrophy or a related neuromuscular disorder. However, obtaining accurate prevalence estimates is challenging due to factors such as the wide range of disease severity, variations in the age of onset, and the complexity of genetic testing required for diagnosis. Furthermore, the prevalence of the disease varies depending on the specific type of muscular dystrophy and the characteristics of the population being studied. […] Duchenne muscular dystrophy is the most common type of muscular dystrophy observed in children, affecting approximately 1 in every 3,500 to 5,000 male births worldwide. Primarily affecting boys, the onset of Duchenne muscular dystrophy typically occurs between the ages of 3 and 5 years. The condition is progressive and ultimately fatal, with most individuals with Duchenne muscular dystrophy surviving into their late teens or early 20s.
  • #4 Becker Muscular Dystrophy: Practice Essentials, Pathophysiology, Epidemiology
    https://emedicine.medscape.com/article/313417-overview
    The incidence and prevalence of BMD are lower than those of DMD. The estimated incidence of BMD is 1 individual per 30,000 male births, compared with 1 individual per 3500 male births for DMD. The prevalence of BMD is 17-27 cases per 1 million population. […] The international incidence is probably similar to that in the United States. […] A series by Emery and Skinner showed the mean age for symptom onset to be 11 years, with the age range for onset being 2-21 years. The mean age at which affected patients described in the studies became nonambulatory was 27 years, with an age range of 12-30 years. Death usually resulted from respiratory or cardiac failure at a mean age of 42 years, with the age range being 23-63 years. […] BMD is an X-linked disorder. Given the transmission pattern, the disease affects primarily males. Translocations may allow the possibility of a female presentation of the BMD phenotype. […] The onset of symptoms occurs at a mean age of 11 years, with the age range for onset being 2-21 years.
  • #4 State-Of-The-Art Advances in Duchenne Muscular Dystrophy – European Medical Journal
    https://www.emjreviews.com/neurology/article/state-of-the-art-advances-in-duchenne-muscular-dystrophy/
    The mean age at diagnosis ranges from 4.3-4.1 years and has not significantly improved over the past 20 years. […] Recommendations to lower the age of diagnosis include raising awareness of DMD in the community, primary care to ensure DMD is recognised as a differential diagnosis in children presenting with signs of muscle weakness and/or speech delay, and promoting early CK level testing as a cost-effective, readily available screening tool for DMD. […] Establishing an accurate genetic diagnosis of DMD at a young age is important as it allows genetic counselling and family carrier testing, prenatal diagnosis, early access to treatment, consideration for mutation specific therapeutic options (e.g. ataluren), or participation in clinical trials with new investigational drugs. […] Surveillance in DMD is centred around early detection of disease complications but also ensuring that patient-specific needs are identified and managed in order to optimise their physical, social, educational, and psychological status.

Zobacz więcej

nadzór endokrynologiczny dystrofia mięśniowa wrodzona dystrofia miotoniczna zanik mięśni endokrynopatia schorzenie nerwowo-mięśniowe wsparcie wentylacyjne kinaza kreatynowa dystrofia mięśniowa Duchenne'a dystrofia mięśniowa dystalna dystrofia mięśniowa Beckera kortykosteroid chorobowość punktowa wózek inwalidzki dystrofia mięśniowa Emery'ego-Dreifussa terapia genowa dystrofia mięśniowa twarzowo-łopatkowo-ramieniowa niewydolność oddechowa dystrofia mięśniowa oczno-gardłowa eteplirsen próba kliniczna powikłanie endokrynologiczne dystrofia mięśniowa obręczowo-kończynowa badanie kliniczne