Paraliż
Diagnostyka i diagnoza

Paraliż definiowany jest jako utrata funkcji mięśni w określonym obszarze ciała, a jego diagnostyka wymaga wieloaspektowego podejścia obejmującego szczegółowy wywiad, badanie fizykalne oraz zaawansowane badania obrazowe (MRI, CT, RTG, mielografia). Kluczowe są także badania elektrofizjologiczne, takie jak elektromiografia (EMG), elektroneurografia (ENoG) oraz badania przewodnictwa nerwowego, które pozwalają ocenić funkcję nerwów i mięśni. Diagnostyka laboratoryjna, w tym badania krwi, płynu mózgowo-rdzeniowego oraz pomiar poziomu potasu (istotny w porażeniach hipokalemicznych ≤ 3,5 mEq/L i hiperkalemicznych ≥ 4,5 mEq/L), umożliwia identyfikację przyczyn infekcyjnych, metabolicznych i autoimmunologicznych. Szczególną uwagę zwraca się na diagnostykę porażenia nerwu twarzowego (w tym porażenia Bella), porażenia strun głosowych, przepony oraz okresowych porażeń mięśniowych, gdzie testy wysiłkowe McManisa i badania genetyczne (mutacje w genach CACNA1S, SCN4A, KCNJ2, KCNJ18) odgrywają istotną rolę.

Diagnostyka Paraliżu

Paraliż to stan charakteryzujący się utratą funkcji mięśni w określonej części ciała. Diagnoza paraliżu jest kluczowym elementem w procesie leczenia, pozwalającym na określenie przyczyny, stopnia nasilenia oraz rokowania. Diagnostyka paraliżu wymaga kompleksowego podejścia, obejmującego zarówno badanie kliniczne, jak i specjalistyczne testy diagnostyczne12.

Badanie kliniczne

Podstawą diagnozy paraliżu jest dokładny wywiad medyczny oraz badanie fizykalne. Lekarz zbiera informacje dotyczące początku objawów, ich charakteru, czynników wyzwalających oraz historii medycznej pacjenta. W przypadku nagłego wystąpienia paraliżu, istotne jest ustalenie, czy objawy pojawiły się nagle czy rozwijały się stopniowo12.

Podczas badania fizykalnego lekarz ocenia zakres porażenia, sprawdza odruchy, siłę mięśniową oraz czucie. W przypadku paraliżu twarzy, lekarz może poprosić pacjenta o wykonanie określonych ruchów twarzy, takich jak zamknięcie oczu, uniesienie brwi, pokazanie zębów czy zmarszczenie czoła1.

Badania obrazowe

Badania obrazowe są niezbędne w diagnostyce paraliżu, szczególnie gdy przyczyna nie jest oczywista. Do najczęściej stosowanych metod należą:

  • Rezonans magnetyczny (MRI) – wykorzystuje fale radiowe i pole magnetyczne do tworzenia trójwymiarowych obrazów tkanek miękkich. MRI jest szczególnie przydatny w diagnostyce porażenia nerwu twarzowego, urazów rdzenia kręgowego oraz zmian w mózgu12
  • Tomografia komputerowa (CT) – dostarcza szczegółowych obrazów struktury kości i tkanek miękkich, pomocnych w diagnozie urazów mózgu i rdzenia kręgowego12
  • Zdjęcia rentgenowskie – pozwalają na wykrycie złamań kości, które mogą uszkadzać nerwy i powodować paraliż12
  • Mielografia – specjalistyczne badanie polegające na wprowadzeniu kontrastu do kanału kręgowego, co umożliwia dokładną ocenę rdzenia kręgowego i nerwów1

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Badania elektrofizjologiczne

Badania elektrofizjologiczne są kluczowe w ocenie funkcji nerwów i mięśni. Wśród nich wyróżniamy:

  • Elektromiografia (EMG) – badanie aktywności elektrycznej mięśni, pozwalające na ocenę ich funkcji i integralności. Jest szczególnie przydatne w diagnozie porażenia nerwu twarzowego oraz innych rodzajów paraliżu12
  • Elektroneurografia (ENoG) – badanie stosowane do oceny funkcji nerwów obwodowych, w tym nerwu twarzowego. Pomaga określić stopień uszkodzenia nerwu i rokowanie12
  • Badanie przewodnictwa nerwowego – ocenia szybkość i efektywność przewodzenia sygnałów przez nerwy1

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Badania laboratoryjne

Badania laboratoryjne mogą pomóc w identyfikacji przyczyn paraliżu, szczególnie tych związanych z infekcjami, zaburzeniami metabolicznymi czy autoimmunologicznymi. Do najważniejszych należą:

  • Badania krwi – mogą wskazać na obecność infekcji, stanów zapalnych, zaburzeń elektrolitowych czy choroby Lyme12
  • Badanie płynu mózgowo-rdzeniowego (punkcja lędźwiowa) – może wykazać obecność infekcji, stanów zapalnych lub schorzeń neurologicznych1
  • Testy na poziom potasu – szczególnie istotne w diagnostyce okresowych porażeń hipokalemicznych i hiperkalemicznych12

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Diagnostyka specyficznych typów paraliżu

Porażenie nerwu twarzowego

Porażenie nerwu twarzowego, w tym porażenie Bella, jest najczęstszą przyczyną jednostronnego paraliżu twarzy. Diagnostyka obejmuje:

  • Badanie kliniczne – ocena symetrii twarzy, zdolności do zamykania oczu, unoszenia brwi i innych ruchów twarzy1
  • Badania obrazowe (MRI, CT) – wykluczenie innych przyczyn paraliżu, takich jak guzy czy złamania12
  • Badanie EMG i ENoG – ocena funkcji nerwu twarzowego i rokowania12
  • Badania laboratoryjne – wykluczenie choroby Lyme, infekcji czy zaburzeń autoimmunologicznych12

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Porażenie strun głosowych

Diagnostyka porażenia strun głosowych obejmuje:

  • Laryngoskopia – bezpośrednia ocena strun głosowych przy użyciu endoskopu. Pozwala określić ruchomość i pozycję strun głosowych1
  • Elektromiografia krtaniowa – pomiar prądów elektrycznych w mięśniach krtani, pomocny w ocenie rokowania1
  • Badania obrazowe – MRI, CT dla wykluczenia innych przyczyn1
  • Badania audiologiczne – ocena słuchu i równowagi1

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Porażenie przepony

Diagnostyka porażenia przepony wymaga:

  • Badania obrazowe – zdjęcie rentgenowskie klatki piersiowej, CT, ultrasonografia1
  • Badania czynnościowe płuc – ocena funkcji oddechowej, w tym pomiary dokonywane w pozycji siedzącej i leżącej1
  • Fluoroskopia – ocena ruchu przepony podczas oddychania1
  • Badanie EMG przepony – ocena aktywności elektrycznej mięśni przepony1

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Okresowe porażenia

Diagnostyka okresowych porażeń, w tym porażeń hipokalemicznych i hiperkalemicznych, opiera się na:

  • Pomiarze poziomu potasu w surowicy podczas ataku – kluczowy dla rozpoznania12
  • Badaniach genetycznych – identyfikacja mutacji w genach kanałów jonowych12
  • Teście wysiłkowym McManisa – ocena odpowiedzi mięśni na wysiłek fizyczny12
  • Wykluczeniu innych przyczyn zaburzeń elektrolitowych12

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Kryteria diagnostyczne okresowych porażeń

Porażenie hipokalemiczne

Kryteria diagnostyczne dla pierwotnego porażenia hipokalemicznego (HypoPP) obejmują:

  • Jeden lub więcej ataków osłabienia mięśni z udokumentowanym poziomem potasu w surowicy ≤ 3,5 mEq/L1
  • Jeden atak osłabienia mięśni u probanda i jeden atak osłabienia u krewnego z udokumentowanym poziomem potasu ≤ 3,5 mEq/L podczas co najmniej jednego ataku1
  • Spełnienie trzech z sześciu cech klinicznych lub laboratoryjnych:
    • Początek w pierwszej lub drugiej dekadzie życia
    • Czas trwania ataku (osłabienie mięśni obejmujące jedną lub więcej kończyn) ≥ 2 godziny
    • Pozytywne czynniki wyzwalające (posiłek bogaty w węglowodany, odpoczynek po wysiłku, stres)
    • Poprawa po przyjęciu potasu
    • Pozytywny wywiad rodzinny lub potwierdzona genetycznie mutacja kanału wapniowego lub sodowego w mięśniach szkieletowych
    • Pozytywny test krótkotrwałego wysiłku McManisa
  • Wykluczenie innych przyczyn hipokaliemii (zaburzenia nerek, nadnerczy, tarczycy; kwasica kanalikowa nerkowa; nadużywanie diuretyków lub środków przeczyszczających)1

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Porażenie hiperkalemiczne

Kryteria diagnostyczne dla pierwotnego porażenia hiperkalemicznego (HyperPP):

  • Dwa lub więcej ataków osłabienia mięśni z udokumentowanym poziomem potasu w surowicy ≥ 4,5 mEq/L1
  • Jeden atak osłabienia mięśni u probanda i jeden atak osłabienia u krewnego z udokumentowanym poziomem potasu ≥ 4,5 mEq/L podczas co najmniej jednego ataku1
  • Spełnienie trzech z sześciu cech klinicznych lub laboratoryjnych:
    • Początek przed trzecią dekadą życia
    • Czas trwania ataku (osłabienie mięśni obejmujące jedną lub więcej kończyn) < 2 godziny
    • Pozytywne czynniki wyzwalające (wysiłek, stres)
    • Miotonia
    • Pozytywny wywiad rodzinny lub potwierdzona genetycznie mutacja kanału sodowego w mięśniach szkieletowych
    • Pozytywny test krótkotrwałego wysiłku McManisa
  • Wykluczenie innych przyczyn hiperkaliemii (zaburzenia nerek, nadnerczy, tarczycy; stosowanie diuretyków oszczędzających potas)1

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Specjalistyczne testy elektrodiagnostyczne

Test krótkotrwałego wysiłku

Test krótkotrwałego wysiłku polega na silnym izometrycznym skurczu mięśnia przez 10-12 sekund. Złożony potencjał czynnościowy mięśnia (CMAP) jest rejestrowany bezpośrednio po wysiłku, a następnie co 10 sekund przez 50 sekund. W porażeniu hiperkalemicznym z mutacją T704M obserwuje się wzrost amplitudy CMAP o około 2-3%. W porażeniach hipokalemicznych (HypoPP1 i HypoPP2) wzrost nie różni się istotnie od grupy kontrolnej (około 5%)12.

Test długotrwałego wysiłku

Test długotrwałego wysiłku polega na skurczu mięśnia przez 5 minut, z krótkimi (3-4 sekundowymi) przerwami co 15 sekund, aby zapobiec niedokrwieniu mięśnia. CMAP jest rejestrowany co minutę podczas wysiłku i co 1-2 minuty po wysiłku przez 30 minut lub do momentu, gdy nie obserwuje się dalszego spadku amplitudy CMAP. Procentowy spadek jest obliczany przez odjęcie najmniejszej amplitudy po wysiłku od największej amplitudy po wysiłku i podzielenie jej przez największą amplitudę po wysiłku. Spadek o ponad 40% w amplitudzie CMAP po 20 minutach jest uznawany za nieprawidłowy i sugeruje okresowe porażenie (swoistość 98%), jednak nie pozwala odróżnić porażenia hiperkalemicznego, hipokalemicznego i tyreotoksycznego1.

Badania genetyczne

Badania genetyczne identyfikują heterozygotyczną patogenną mutację u 60-70% pacjentów spełniających kryteria diagnostyczne dla porażeń okresowych. Najczęstsze mutacje genów związane z porażeniami okresowymi to: CACNA1S i SCN4A (HypoPP), SCN4A (HyperPP), KCNJJ2 (zespół Andersena-Tawila) oraz KCNJ18 (porażenie tyreotoksyczne)12.

Diagnostyka różnicowa

Diagnostyka różnicowa paraliżu jest kluczowa dla odpowiedniego leczenia. Wiele stanów może naśladować objawy paraliżu, dlatego ważne jest wykluczenie innych przyczyn1.

Porażenie nerwu twarzowego – diagnostyka różnicowa

W przypadku porażenia nerwu twarzowego należy wykluczyć:

  • Udar mózgu – charakteryzuje się nagłym początkiem, często z innymi objawami neurologicznymi1
  • Chorobę Lyme – wywołaną przez bakterię Borrelia, często z charakterystyczną wysypką1
  • Nowotwory – mogą powodować stopniowe narastanie objawów1
  • Infekcje ucha środkowego – mogą dawać podobne objawy1
  • Stwardnienie rozsiane – może objawiać się porażeniem nerwu twarzowego1

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Okresowe porażenia – diagnostyka różnicowa

W przypadku okresowych porażeń należy wykluczyć:

  • Wtórne przyczyny hipokaliemii – np. choroby nerek, nadnerczy, tarczycy, nadużywanie diuretyków1
  • Wtórne przyczyny hiperkaliemii – np. choroby nerek, nadnerczy1
  • Miastenia – charakteryzuje się nużliwością mięśni1
  • Zespół Guillaina-Barrégo – ostra zapalna polineuropatia1

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Rola biopsji mięśnia w diagnostyce

Biopsja mięśnia może być przydatna w diagnostyce niektórych rodzajów paraliżu, szczególnie porażeń okresowych. Wyniki histologiczne w porażeniu hipokalemicznym obejmują:

  • Obecność wakuoli w włóknach mięśniowych – najbardziej charakterystyczna zmiana1
  • Zmiany miopatyczne – zmienność wielkości włókien mięśniowych, włókna podzielone, jądra wewnętrzne1
  • Agregaty tubularne – obecne w włóknach typu II, zlokalizowane podsarkolemmowo1

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Zmiany te są bardziej zaznaczone w porażeniu hipokalemicznym niż hiperkalemicznym. W tym ostatnim wakuole są małe i zlokalizowane obwodowo1.

Wyzwania diagnostyczne

Diagnostyka paraliżu może napotkać różne wyzwania:

  • Rzadkość niektórych typów paraliżu – powoduje, że lekarze mogą mieć ograniczone doświadczenie w ich diagnozowaniu1
  • Podobieństwo objawów do innych chorób – może prowadzić do błędnych diagnoz1
  • Opóźnienie w diagnostyce – niektóre typy paraliżu, jak porażenia okresowe, mogą być diagnozowane nawet po 20 latach od wystąpienia pierwszych objawów1
  • Ograniczenia testów diagnostycznych – np. punkcja lędźwiowa w zespole Guillaina-Barrégo jest dokładna do 90%, ale tylko gdy badanie wykonano po tygodniu od wystąpienia objawów1

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Podsumowanie diagnostyczne

Diagnostyka paraliżu wymaga kompleksowego podejścia, obejmującego:

  • Dokładny wywiad medyczny i badanie fizykalne1
  • Badania obrazowe – MRI, CT, zdjęcia rentgenowskie1
  • Badania elektrofizjologiczne – EMG, ENoG, badania przewodnictwa nerwowego1
  • Badania laboratoryjne – badania krwi, płynu mózgowo-rdzeniowego1
  • Badania genetyczne – szczególnie w przypadku podejrzenia porażeń okresowych1

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Wczesna i prawidłowa diagnoza paraliżu jest kluczowa dla wdrożenia odpowiedniego leczenia i poprawy rokowania pacjenta. W przypadku nagłego wystąpienia objawów paraliżu, szczególnie twarzy, konieczna jest natychmiastowa konsultacja lekarska12.

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  1. 13.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Paralysis: Definition and Patient Education
    https://www.healthline.com/health/paralysis
    Diagnosing paralysis is often easy, especially when your loss of muscle function is obvious. […] For internal body parts where paralysis is more difficult to identify, your doctor may use X-rays, CT scans, MRI scans, or other imaging studies. […] If you experience a spinal cord injury, your doctor may use myelography to assess your condition. In this procedure, theyll insert a special dye into the nerves in your spinal cord. This will help them see your nerves more clearly on X-rays. They may also perform an electromyography. In this procedure, theyll use sensors to measure electrical activity in your muscles.
  • #1 Paralysis – Types of Paralysis & Their Causes
    https://www.webmd.com/brain/paralysis-types
    Paralysis Diagnosis […] To understand what’s causing your problem, your doctor will examine you and ask about any recent injuries. If your symptoms came on gradually, they’ll ask when you first noticed them. […] You might get several tests, such as: […] X-rays to find broken bones that could injure nerves […] Scans, such as MRIs or CTs, to look for signs of stroke or damage to your brain and spinal cord […] A myelogram, to get detailed pictures of your spinal cord, using a special dye injected in the spinal column […] An EMG (electromyogram), a test of the electrical activity in your nerves and muscles […] A spinal tap (lumbar puncture), a test in which some cerebrospinal fluid is taken from your spine and tested for infection, inflammation, and signs of certain diseases.
  • #1 Bell’s palsy – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/bells-palsy/diagnosis-treatment/drc-20370034
    There’s no specific test for Bell’s palsy. Your healthcare professional looks at your face and asks you to move your facial muscles. You’re asked to close your eyes, lift your brow, show your teeth and frown, among making other movements. […] Other conditions such as a stroke, infections, Lyme disease, inflammatory conditions and tumors can cause facial muscle weakness that mimics Bell’s palsy. If the cause of your symptoms isn’t clear, your healthcare professional may recommend other tests, including: […] Electromyography (EMG). This test can confirm the presence of nerve damage and determine how serious it is. An EMG measures the electrical activity of a muscle in response to stimulation. It also measures the nature and speed of the conduction of electrical impulses along a nerve. […] Imaging scans. Magnetic resonance imaging (MRI) or computerized tomography (CT) may be needed on occasion to rule out other possible sources of pressure on the facial nerve, such as a tumor or skull fracture.
  • #1 Diagnosing Facial Nerve Paralysis | NYU Langone Health
    https://nyulangone.org/conditions/facial-nerve-paralysis/diagnosis
    Facial nerve paralysis is an inability to move the muscles that control smiling, blinking, and other facial movements. […] Paralysis can occur if any part of the facial nerve, called the seventh cranial nerve, becomes inflamed or damaged. […] NYU Langone otolaryngologists also known as ear, nose, and throat (ENT) doctors specialize in diagnosing facial nerve paralysis. An early diagnosis can dramatically improve the chances that doctors can restore muscle function. […] Doctors at NYU Langone may use one or more diagnostic tests to determine the cause of your symptoms. […] Your doctor visually examines your face to assess the extent of paralysis. […] MRI scans use radio waves and a magnetic field to create computerized, three-dimensional images of soft tissues in the body. […] The stapedius reflex test is a type of hearing test that audiologists use to assess damage to the seventh cranial nerve.
  • #1 About the Diagnostic Tests Required to Determine Paralysis Cause – New York Facial Paralysis
    https://www.newyorkfacialparalysis.com/blog/about-the-diagnostic-tests-required-to-determine-paralysis-cause/
    There are usually multiple potential causes for a given combination of symptoms. Therefore, diagnostic tests, in addition to a physical examination, routine laboratory tests and your medical history, are necessary. […] For example, your case of facial paralysis could present itself as facial tightness, drooping, twitching or asymmetry in facial characteristics, all of which are symptoms of inflammation, infection or an underlying disease. Therefore, you will need to do one or more of the following diagnostic tests to know which condition has led to your paralysis symptoms. […] An audiogram test is used to diagnose hearing loss and balance problems and to help define the cause of facial paralysis. […] Electromyography examines facial nerve health and integrity. […] Audiologists use electroneuronography to examine facial nerves. […] Imaging can typically diagnose facial nerve dysfunction. […] Special tests could include blood tests (like an ESR) to check for blood sugar levels and inflammation to see if the patient has diabetes. […] The sooner you schedule a consultation with us, the better.
  • #1 Paralysis: Definition, Diagnosis, Management, and Prevention
    https://resources.healthgrades.com/right-care/brain-and-nerves/paralysis
    Paralysis is the loss of the ability to move some or all parts of the body. It can be temporary or permanent. […] Diagnosing paralysis starts with a complete history and thorough physical examination. Following this, your doctor may order some tests. […] Imaging tests can help diagnose spinal cord injuries. These tests may include: CT scans, MRI scans, spinal X-rays. […] Nerve conduction studies test your nerve function at different places using electrical currents. They measure how quickly and efficiently signals travel through your nerves. […] In addition, an electromyography (EMG) test also assesses your muscles’ electrical signals when they are active and at rest. […] These tests help doctors determine whether an underlying condition affects your nerves, muscles, or both. […] Treatment of paralysis depends on the underlying cause. […] Your doctor can diagnose the cause of paralysis and offer guidance on managing the condition. They can also advise on medications, equipment, and rehabilitation to improve your quality of life.
  • #1 Periodic Paralyses Workup: Diagnostic Criteria, Laboratory Studies, Electrodiagnostic Studies
    https://emedicine.medscape.com/article/1171678-workup
    Diagnostic criteria for primary HypoPP requires: […] One or more attacks of muscle weakness with documented serum K 3.5 mEq/L. […] One attack of muscle weakness in the proband and one attack of weakness in one relative with documented serum K 3.5 mEq/L in at least one attack. […] Three of six clinical or laboratory features outlined below: […] Onset in the first or second decade of life […] […] Attack duration (muscle weakness involving one or more limbs) 2 hours […] […] Positive triggers (high carbohydrate rich meal, rest after exercise, stress) […] […] Improvement with potassium intake […] […] Positive family history or genetically confirmed skeletal calcium or sodium channel mutation […] […] Positive McManis short exercise test […] […] Exclusion of other causes of hypokalemia (renal, adrenal, thyroid dysfunction; renal tubular acidosis; diuretic or laxative abuse) […]
  • #1 Bell’s Palsy Diagnosis & Treatment | Facial Paralysis Institute
    https://facialparalysisinstitute.com/blog/treating-bells-palsy/
    The number one cause of facial paralysis in the United States is Bells palsy, but not all patients who have facial paralysis have Bells palsy. […] Bells palsy is coined for any type of facial paralysis that does not have any other associated causes, such as tumors, trauma, and salivary gland inflammation. […] Unfortunately, many physicians and internists do not have significant knowledge about facial paralysis and Bells palsy, which means they may not perform adequate tests. […] That is why we have put together this list of typical studies and tests that need to be performed to determine if you have Bells palsy. […] Common studies and tests that should be performed include: Lab testing for Lyme disease, Thyroid function test, HIV test, Hepatitis test, A complete neurologic and ENT evaluation.
  • #1 Vocal cord paralysis – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/vocal-cord-paralysis/diagnosis-treatment/drc-20378878
    To diagnose vocal cord paralysis, your healthcare professional asks about your symptoms and lifestyle. Your care professional also listens to your voice and asks how long you’ve had voice changes. You also may need the following tests: […] Laryngoscopy. Your healthcare professional looks at your vocal cords using a mirror or a thin, flexible tube known as a laryngoscope or endoscope, or both. […] These special high-magnification endoscopes allow your healthcare professional to view your vocal cords directly or on a video monitor. The tests reveal the movement and position of the vocal cords. This can tell your healthcare professional whether one or both vocal cords are affected. […] Laryngeal electromyography. This test measures the electrical currents in your voice box muscles. […] This test isn’t used to guide treatment, but it may give an estimate about how well you may recover. This test is most useful when it’s done between six weeks and six months after your symptoms began.
  • #1 Vocal cord paralysis – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/vocal-cord-paralysis/diagnosis-treatment/drc-20378878
    Blood tests and scans. Several diseases may cause nerve injuries. You may need additional tests to find the cause of the paralysis. Tests may include bloodwork, X-rays, MRI or CT scans. […] If your vocal cord paralysis symptoms don’t fully recover on their own, you may need surgery to improve your ability to speak and to swallow. […] Surgical options include: […] Bulk injection. Paralysis of the nerve to your vocal cord will probably leave the vocal cord muscle thin and weak. A doctor who specializes in disorders of the larynx, known as a laryngologist, may add bulk to the paralyzed vocal cord. […] Vocal cord repositioning. In this procedure, a surgeon moves a window of your own tissue from the outside of your voice box inward, pushing the paralyzed vocal cord toward the middle of your voice box. This allows your functioning vocal cord to better vibrate against the paralyzed vocal cord.
  • #1 Paralyzed Diaphragm | Cedars-Sinai
    https://www.cedars-sinai.org/health-library/diseases-and-conditions/p/paralyzed-diaphragm.html
    Diaphragm paralysis is uncommon. […] Diagnosis of diaphragmatic paralysis usually begins with a physical exam and a review of the patient’s medical history and symptoms. […] Tests include: Lung function tests, including some tests done sitting and lying down, Chest X-ray, Radiologic fluoroscopy (real-time viewing) with a sniff maneuver to show paradoxical motion, Ultrasound imaging to look at diaphragm motion and changes in the muscle thickness, Maximum inspiratory mouth pressures (measure of breathing muscle strength), Measure of transdiaphragmatic pressure (measure of diaphragm strength), Phrenic nerve stimulation in the neck by electric or magnetic stimulation, Electromyography, a test that evaluates and records electrical activity produced by skeletal muscles, Arterial blood gas test; an abnormal result is a late sign of severe impairment, Computed tomography scanning of the chest, abdomen or both, Magnetic resonance imaging to determine if there is an underlying condition involving the spinal column or nerve roots, Ultrasound to see the activity of the diaphragm and to identify any unusual movement or lack of movement.
  • #1 Review of the Diagnosis and Treatment of Periodic Paralysis – PubMed
    https://pubmed.ncbi.nlm.nih.gov/29125635/
    Periodic paralyses (PPs) are rare neuromuscular disorders caused by mutations in skeletal muscle sodium, calcium, and potassium channel genes. […] Diagnosis is based on the characteristic clinic presentation then confirmed by genetic testing. In the absence of an identified genetic mutation, documented low or high potassium levels during attacks or a decrement on long exercise testing support diagnosis. […] The treatment approach should include both management of acute attacks and prevention of attacks. Treatments include behavioral interventions directed at avoidance of triggers, modification of potassium levels, diuretics, and carbonic anhydrase inhibitors.
  • #1 Periodic Paralyses Workup: Diagnostic Criteria, Laboratory Studies, Electrodiagnostic Studies
    https://emedicine.medscape.com/article/1171678-workup
    Diagnostic criteria for primary HyperPP requires: […] Two or more attacks of muscle weakness with documented serum K 4.5 mEq/L. […] One attack of muscle weakness in the proband and one attack of weakness in one relative with documented serum K 4.5 mEq/L in at least one attack. […] Three of six clinical or laboratory features outlined below: […] Onset before the third decade of life […] […] Attack duration (muscle weakness involving one or more limbs) 2 hours […] […] Positive triggers (exercise, stress) […] […] Myotonia […] […] Positive family history or genetically confirmed skeletal sodium channel mutation […] […] Positive McManis short exercise test […] […] Exclusion of other causes of hyperkalemia (renal, adrenal, thyroid dysfunction; potassium sparing diuretic use) […]
  • #1 Periodic Paralyses Workup: Diagnostic Criteria, Laboratory Studies, Electrodiagnostic Studies
    https://emedicine.medscape.com/article/1171678-workup
    The test is based on 2 previously described observations: that CMAP amplitude is low in the muscle weakened by periodic paralyses and the weakness can be induced by exercise. […] Recording electrodes are placed over the hypothenar muscle and a CMAP is obtained by giving supramaximal stimuli. […] The stimuli are repeated every 3060 seconds for a period of 23 minutes, until a stable baseline amplitude is obtained. […] Two kinds of exercise tests can be performed. […] A short exercise test is one in which the muscle is contracted strongly in isometric conditions for 1012 seconds. […] CMAPs are obtained 2 seconds immediately after exercise an then every 10 seconds for 50 seconds. […] In hyperkalemic periodic paralyses patients carrying T704M mutations, increase in CMAP amplitude (approximately 23%) occurs.
  • #1 Periodic Paralyses Workup: Diagnostic Criteria, Laboratory Studies, Electrodiagnostic Studies
    https://emedicine.medscape.com/article/1171678-workup
    In HypoPP1 and HypoPP2 patients, the increase is not significantly different from the control subjects (about 5%). […] In the long exercise test, the muscle is contracted for 5 minutes, with brief (3- to 4-second) rests every 15 seconds to prevent muscle ischemia. […] The CMAP is recorded every minute during exercise and every 12 minutes after exercise for a period of 30 minutes or until no further decrement is observed in the amplitude of CMAP. […] Percentage of decrement is calculated by subtracting the smallest amplitude after exercise from the greatest amplitude after exercise and dividing it by the greatest amplitude after exercise. […] After a brief increase in CMAP amplitude, a decrease of more than 40% in the CMAP amplitude after 20 minutes is considered abnormal. […] An abnormal result is highly suggestive of periodic paralyses (98% specificity) but does not distinguish between hyperkalemic, hypokalemic, and thyrotoxic periodic paralyses.
  • #1 Periodic Paralyses Workup: Diagnostic Criteria, Laboratory Studies, Electrodiagnostic Studies
    https://emedicine.medscape.com/article/1171678-workup
    Genetic testing identifies a heterozygous pathogenetic mutation in 60%70% of patients meeting the diagnostic criteria for periodic paralysis (PP). […] Common PPs are autosomal dominant and the mutations of several types of PP are discussed in detail under pathophysiology section. […] The following are the common gene mutations associated with PP: CACNA1S and SCN4A (HypoPP), SCN4A (HyperPP), KCNJJ2 (Andersen-Tawil syndrome), and KCNJ18 (thyrotoxic PP). […] Serum potassium level decreases during attacks. […] In one series, the mean concentration of serum potassium was 2.4 mEq/L. […] Secondary causes of HypoPP should be suspected if serum potassium levels are below 2 mEq/L. […] Creatine phosphokinase (CPK) level rises during attacks. […] In one study, transtubular potassium concentration gradient (TTKG) and potassium-creatinine ratio (K/C) distinguished primary hypokalemic PP from secondary PP resulting from a large deficit of potassium.
  • #1 Bell’s Palsy Diagnosis & Treatment | Facial Paralysis Institute
    https://facialparalysisinstitute.com/blog/treating-bells-palsy/
    Occasionally, other exams may need to be done to rule out other causes of facial paralysis, such as: Tearing test function, Computed Tomography (CT scan), Magnetic Resonance Imaging (MRI). […] Moreover, patients with severe cases of facial paralysis who are believed to have Bells palsy may also need an Electromyography or an Electroneurography (ENoG). […] If you develop facial paralysis you need to immediately be evaluated, and other causes of facial paralysis such as tumor, trauma, and inner ear infection must be ruled out. […] Once all other causes of facial paralysis have been ruled out, you are given the diagnosis of Bells palsy. […] If you are suffering from Bells palsy, you need to be treated immediately with high dose steroids, as well as antiviral medications like Famvir and Valtrex.
  • #1 Facial Paralysis | Condition | UT Southwestern Medical Center
    https://utswmed.org/conditions-treatments/facial-paralysis/
    It’s crucial to distinguish Bell’s palsy from other conditions that can cause facial weakness, such as stroke, middle ear infections, or multiple sclerosis. The key physical finding that differentiates Bell’s palsy is a partial or complete weakness of the forehead muscles. […] Facial paralysis treatments can vary based on the type and location of the paralysis, the elapsed time from when the paralysis occurred to the time of seeking treatment, the patients age, and patient preference.
  • #1 Periodic Paralyses Workup: Diagnostic Criteria, Laboratory Studies, Electrodiagnostic Studies
    https://emedicine.medscape.com/article/1171678-workup
    Serum sodium level may fall as potassium level rises. […] This results from sodium entry into the muscle. […] Water also moves in this direction, causing hemoconcentration and further hyperkalemia. […] Hyperregulation may occur at the end of an attack, causing hypokalemia. […] Water diuresis, creatinuria, and an increase in CPK level also may occur at the end of an attack. […] ECG may show tall T waves. […] The compound muscle action potential (CMAP) amplitude declines during the paralytic attack, more so in hypokalemic periodic paralysis (HypoPP). […] Sensory nerve conduction study findings are normal in most patients with periodic paralyses. […] Nerve conduction findings may be abnormal when the patient has peripheral neuropathy associated with thyrotoxicosis. […] Repetitive nerve stimulation in hyperkalemic periodic paralysis may show a decrement in CMAP (accentuated by cooling) that is steadily progressive without tendency to recover as in myasthenia gravis.
  • #1 Differential diagnosis of flaccid paralysis in paediatric medicine | Neurología (English Edition)
    https://www.elsevier.es/en-revista-neurologia-english-edition–495-articulo-differential-diagnosis-flaccid-paralysis-in-S2173580816300645
    Differential diagnosis of flaccid paralysis in paediatric medicine […] Guillain-Barr syndrome (GBS), an acute inflammatory polyneuropathy, is currently considered the most frequent cause of flaccid paralysis in children. It is characterised by acute areflexic paralysis with albuminocytologic dissociation and it is considered a neurological emergency. Differential diagnosis of GBS offers a wide range of possibilities; the most important diseases to rule out are spinal canal compression, transverse myelitis, botulism, and cerebellar ataxia. Monitoring clinical progression and running complementary tests are the keys to definitive diagnosis. […] When GBS is suspected, various entities must be ruled out. One of the most important is spinal canal compression, which can also cause sudden-onset symmetrical flaccid paralysis accompanied by arreflexia in the initial stage of spinal shock. However, it may also present at a later stage with normoreflexia or hyperreflexia. Spinal cord compression requires emergency decompressive surgical treatment.
  • #1 Periodic Paralyses Workup: Diagnostic Criteria, Laboratory Studies, Electrodiagnostic Studies
    https://emedicine.medscape.com/article/1171678-workup
    Provocative testing is dangerous and is not the first line of diagnostic testing. […] Weakness usually is detected within 23 hours, and if not patients should be considered for intravenous (IV) glucose challenge. […] If no weakness occurs, an additional amount of potassium chloride (0.100.15 g/kg) is given. […] Weakness usually is detected between 90-180 minutes after initiation of testing. […] Muscle biopsy is abnormal, more typically in patients with hypokalemic periodic paralysis (PP) than in patients with hyperkalemic periodic paralysis (PP). […] Histologic findings in hypokalemic PP include the following: […] The most characteristic abnormality is the presence of vacuoles in the muscle fibers. […] Sometimes, they fill the muscle fibers, and in some patients, groups of vacuoles may be noted.
  • #1 Periodic Paralyses Workup: Diagnostic Criteria, Laboratory Studies, Electrodiagnostic Studies
    https://emedicine.medscape.com/article/1171678-workup
    These changes are more marked in hypokalemic PP than in hyperkalemic PP. […] In the latter, the vacuoles are small and peripherally located. […] Reports of muscle biopsy findings in PC are few and the vacuolar changes are less frequent. […] Signs of myopathy include muscle fiber size variability, split fibers, and internal nuclei. […] Muscle fiber atrophy may be present in clinically affected muscles. […] Tubular aggregates may be seen in some patients. […] Tubular aggregates are seen in type II fibers. […] They are subsarcolemmal in location. […] This abnormality is seen only in hypokalemic PP. […] Muscle fiber necrosis is rare.
  • #1 Diagnosing the Symptoms of Facial Paralysis
    https://www.upmc.com/services/ear-nose-throat/services/facial-nerves-and-plastic-surgery/facial-paralysis-center/diagnosis
    Many people suffering from facial nerve disorders do not realize that UPMCs Facial Nerve Center might be able to help. […] Our team diagnoses and treats many facial nerve conditions including hemi-facial spasms, Bell’s palsy, and synkinesis. […] But, the first step toward diagnosis and treatment is making an appointment with us. […] Facial nerve disorders are not as common as other health issues, like high blood pressure or diabetes. A general medical doctor may not see many patients who suffer from these disorders and lack experience making a proper diagnosis. […] The experts at UPMCs Facial Nerve Center have evaluated more than 4000 patients with facial paralysis. […] To make sure your diagnosis is correct, our process includes: A detailed health history, A review of your medical records, X-rays.
  • #1 Primary Periodic Paralysis: Causes, Symptoms, and Treatment
    https://www.webmd.com/brain/primary-periodic-paralysis
    Primary periodic paralysis (PPP) is a group of rare diseases that temporarily make muscles stiff, weak, or unable to move. These episodes can last from a few minutes to a few days, depending on the type of PPP you have. […] It often takes time to get the right diagnosis for PPP. Its a rare condition, and its symptoms are similar to those of more common health problems. Plus, many doctors arent very familiar with it. You may need to see a specialist with expertise in neuromuscular conditions, like a neurologist or a physical medicine and rehabilitation specialist, to get the right diagnosis. […] To figure out if you or your child has PPP and to find out the type of the disease, your doctor might ask questions, like: When did the symptoms start? Does anyone else in your family have PPP? What happens during the episodes? Have you noticed specific symptoms, like weak muscles or a fast or irregular heartbeat? What seems to bring on the attacks? For example, do they tend to happen along with certain foods or after exercise?
  • #1 Diagnosis and Management of Primary Periodic Paralysis (PPP)
    https://www.keveyis.com/hcp/about-ppp/diagnosis-and-management/
    Every patient’s journey to a Primary Periodic Paralysis (PPP) diagnosis is different. The established diagnostic protocol can help speed up the path to treatment. […] On average, it can take 20+ years to receive a diagnosis. […] PPP often has nonspecific and episodic symptoms that mimic those of more common diseases — like cardiovascular or mental health disorders — resulting in years of diagnostic delays and misdiagnoses. […] The average time from onset of symptoms to correct diagnosis is 26 years. […] Because PPP is so rare, many patients have a challenging time receiving an accurate diagnosis. […] Diagnosing a patient with PPP can be a straightforward process by following the established protocol below. […] In a sponsored roundtable discussion, expert clinicians in the field created a white paper that includes a detailed diagnostic algorithm for Primary Periodic Paralysis, which can help you identify PPP in patients and speed up their path to treatment. […] A genetic test can help shorten the journey to diagnosis and speed up a path to treatment.
  • #1 Diagnosis – Creeping Paralysis – The New York Times
    https://www.nytimes.com/2011/06/05/magazine/guillain-barre-syndrome-creeping-paralysis.html
    DIAGNOSISWhen Roer got the preliminary negative results on botulism, he, like many of our responders, wasn’t ready to give up on the diagnosis. […] Three days later, the results of the blood test for the Miller Fisher variant of Guillain-Barré syndrome came back strongly positive. […] WHY IT WAS A DIFFICULT CASEThe spinal tap is accurate in diagnosing G.B.S. up to 90 percent of the time but only when the test is done after one week of symptoms. […] Ultimately both of these diseases have to be diagnosed based on the patient’s story and the physical exam.
  • #1 The Diagnosis, Treatment, and Complications Arising from Paralysis – Cunningham & Mears
    https://www.cunninghamandmears.com/blog/the-diagnosis-treatment-and-complications-arising-from-paralysis/
    Paralysis is diagnosed based on an oral examination and a physical examination. The evaluation may be made by an emergency room doctor. In most cases, a neurologist determines whether you or a loved one is paralyzed. […] Some of the diagnostic tests used to determine whether a patient is paralyzed include: […] X-rays. This test determines if you have any broken bones that may be causing a nerve injury. […] CT scans and MRIs. These tests can help determine if you suffered a stroke, a brain injury, or a spinal cord injury. […] Myelogram. This diagnostic test checks for spinal cord and nerve injuries. […] Electromyogram (EMG). This test examines the electrical activity of nerves and muscles. […] Spinal tap (lumbar puncture). This test examines the spinal fluid for infection, inflammation, and disorders like multiple sclerosis (MS).
  • #1 Bell’s palsy – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/bells-palsy/diagnosis-treatment/drc-20370034
    Blood tests. There is no blood test for Bell’s palsy. But blood tests can be used to rule out Lyme disease and other infections. […] Most people with Bell’s palsy recover fully with or without treatment. There’s no one-size-fits-all treatment for Bell’s palsy. But your healthcare professional may suggest medicines or physical therapy to help speed your recovery. […] Commonly used medicines to treat Bell’s palsy include: […] Corticosteroids, such as prednisone (Rayos, Prednisone Intensol). These are powerful anti-inflammatory agents. If they can reduce the swelling of the facial nerve, the nerve can fit more comfortably within the bony corridor that surrounds it. Corticosteroids may work best if they’re started within several days of when symptoms start. Steroids started early improve the likelihood of complete recovery.
  • #1 Bell’s Palsy Diagnosis & Treatment | Facial Paralysis Institute
    https://facialparalysisinstitute.com/blog/treating-bells-palsy/
    It is imperative that these medications get started immediately. […] Once the immediate treatment has been initiated, careful follow up with a facial nerve paralysis expert, such as Dr. Azizzadeh, needs to be continued for the first year of treatment. […] Other issues that needs to be immediately attended to include eye protection. […] Patients who have total facial paralysis may have an inability to close their eyes completely (lagophthalmos). […] Patients who present with an inability to close their eyes are at a high risk of developing ulcerations and injury to their cornea. […] If you are suffering from Bells palsy and would like a more detailed explanation of your treatment options, know that we would have to evaluate your unique individual case before deciding what treatment option would work best.
  • #2 Diagnosing Facial Nerve Paralysis | NYU Langone Health
    https://nyulangone.org/conditions/facial-nerve-paralysis/diagnosis
    Facial nerve paralysis is an inability to move the muscles that control smiling, blinking, and other facial movements. […] Paralysis can occur if any part of the facial nerve, called the seventh cranial nerve, becomes inflamed or damaged. […] NYU Langone otolaryngologists also known as ear, nose, and throat (ENT) doctors specialize in diagnosing facial nerve paralysis. An early diagnosis can dramatically improve the chances that doctors can restore muscle function. […] Doctors at NYU Langone may use one or more diagnostic tests to determine the cause of your symptoms. […] Your doctor visually examines your face to assess the extent of paralysis. […] MRI scans use radio waves and a magnetic field to create computerized, three-dimensional images of soft tissues in the body. […] The stapedius reflex test is a type of hearing test that audiologists use to assess damage to the seventh cranial nerve.
  • #2 The Diagnosis, Treatment, and Complications Arising from Paralysis – Cunningham & Mears
    https://www.cunninghamandmears.com/blog/the-diagnosis-treatment-and-complications-arising-from-paralysis/
    Paralysis is diagnosed based on an oral examination and a physical examination. The evaluation may be made by an emergency room doctor. In most cases, a neurologist determines whether you or a loved one is paralyzed. […] Some of the diagnostic tests used to determine whether a patient is paralyzed include: […] X-rays. This test determines if you have any broken bones that may be causing a nerve injury. […] CT scans and MRIs. These tests can help determine if you suffered a stroke, a brain injury, or a spinal cord injury. […] Myelogram. This diagnostic test checks for spinal cord and nerve injuries. […] Electromyogram (EMG). This test examines the electrical activity of nerves and muscles. […] Spinal tap (lumbar puncture). This test examines the spinal fluid for infection, inflammation, and disorders like multiple sclerosis (MS).
  • #2 Paralysis – Types of Paralysis & Their Causes
    https://www.webmd.com/brain/paralysis-types
    Paralysis Diagnosis […] To understand what’s causing your problem, your doctor will examine you and ask about any recent injuries. If your symptoms came on gradually, they’ll ask when you first noticed them. […] You might get several tests, such as: […] X-rays to find broken bones that could injure nerves […] Scans, such as MRIs or CTs, to look for signs of stroke or damage to your brain and spinal cord […] A myelogram, to get detailed pictures of your spinal cord, using a special dye injected in the spinal column […] An EMG (electromyogram), a test of the electrical activity in your nerves and muscles […] A spinal tap (lumbar puncture), a test in which some cerebrospinal fluid is taken from your spine and tested for infection, inflammation, and signs of certain diseases.
  • #2 Bell’s Palsy Diagnosis & Treatment | Facial Paralysis Institute
    https://facialparalysisinstitute.com/blog/treating-bells-palsy/
    Occasionally, other exams may need to be done to rule out other causes of facial paralysis, such as: Tearing test function, Computed Tomography (CT scan), Magnetic Resonance Imaging (MRI). […] Moreover, patients with severe cases of facial paralysis who are believed to have Bells palsy may also need an Electromyography or an Electroneurography (ENoG). […] If you develop facial paralysis you need to immediately be evaluated, and other causes of facial paralysis such as tumor, trauma, and inner ear infection must be ruled out. […] Once all other causes of facial paralysis have been ruled out, you are given the diagnosis of Bells palsy. […] If you are suffering from Bells palsy, you need to be treated immediately with high dose steroids, as well as antiviral medications like Famvir and Valtrex.
  • #2 Bell’s palsy – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/bells-palsy/diagnosis-treatment/drc-20370034
    Blood tests. There is no blood test for Bell’s palsy. But blood tests can be used to rule out Lyme disease and other infections. […] Most people with Bell’s palsy recover fully with or without treatment. There’s no one-size-fits-all treatment for Bell’s palsy. But your healthcare professional may suggest medicines or physical therapy to help speed your recovery. […] Commonly used medicines to treat Bell’s palsy include: […] Corticosteroids, such as prednisone (Rayos, Prednisone Intensol). These are powerful anti-inflammatory agents. If they can reduce the swelling of the facial nerve, the nerve can fit more comfortably within the bony corridor that surrounds it. Corticosteroids may work best if they’re started within several days of when symptoms start. Steroids started early improve the likelihood of complete recovery.
  • #2 Periodic Paralyses Workup: Diagnostic Criteria, Laboratory Studies, Electrodiagnostic Studies
    https://emedicine.medscape.com/article/1171678-workup
    Diagnostic criteria for primary HyperPP requires: […] Two or more attacks of muscle weakness with documented serum K 4.5 mEq/L. […] One attack of muscle weakness in the proband and one attack of weakness in one relative with documented serum K 4.5 mEq/L in at least one attack. […] Three of six clinical or laboratory features outlined below: […] Onset before the third decade of life […] […] Attack duration (muscle weakness involving one or more limbs) 2 hours […] […] Positive triggers (exercise, stress) […] […] Myotonia […] […] Positive family history or genetically confirmed skeletal sodium channel mutation […] […] Positive McManis short exercise test […] […] Exclusion of other causes of hyperkalemia (renal, adrenal, thyroid dysfunction; potassium sparing diuretic use) […]
  • #2 Bell’s Palsy Diagnosis & Treatment | Facial Paralysis Institute
    https://facialparalysisinstitute.com/blog/treating-bells-palsy/
    The number one cause of facial paralysis in the United States is Bells palsy, but not all patients who have facial paralysis have Bells palsy. […] Bells palsy is coined for any type of facial paralysis that does not have any other associated causes, such as tumors, trauma, and salivary gland inflammation. […] Unfortunately, many physicians and internists do not have significant knowledge about facial paralysis and Bells palsy, which means they may not perform adequate tests. […] That is why we have put together this list of typical studies and tests that need to be performed to determine if you have Bells palsy. […] Common studies and tests that should be performed include: Lab testing for Lyme disease, Thyroid function test, HIV test, Hepatitis test, A complete neurologic and ENT evaluation.
  • #2 Vocal cord paralysis – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/vocal-cord-paralysis/diagnosis-treatment/drc-20378878
    Blood tests and scans. Several diseases may cause nerve injuries. You may need additional tests to find the cause of the paralysis. Tests may include bloodwork, X-rays, MRI or CT scans. […] If your vocal cord paralysis symptoms don’t fully recover on their own, you may need surgery to improve your ability to speak and to swallow. […] Surgical options include: […] Bulk injection. Paralysis of the nerve to your vocal cord will probably leave the vocal cord muscle thin and weak. A doctor who specializes in disorders of the larynx, known as a laryngologist, may add bulk to the paralyzed vocal cord. […] Vocal cord repositioning. In this procedure, a surgeon moves a window of your own tissue from the outside of your voice box inward, pushing the paralyzed vocal cord toward the middle of your voice box. This allows your functioning vocal cord to better vibrate against the paralyzed vocal cord.
  • #2 Periodic Paralyses Workup: Diagnostic Criteria, Laboratory Studies, Electrodiagnostic Studies
    https://emedicine.medscape.com/article/1171678-workup
    Genetic testing identifies a heterozygous pathogenetic mutation in 60%70% of patients meeting the diagnostic criteria for periodic paralysis (PP). […] Common PPs are autosomal dominant and the mutations of several types of PP are discussed in detail under pathophysiology section. […] The following are the common gene mutations associated with PP: CACNA1S and SCN4A (HypoPP), SCN4A (HyperPP), KCNJJ2 (Andersen-Tawil syndrome), and KCNJ18 (thyrotoxic PP). […] Serum potassium level decreases during attacks. […] In one series, the mean concentration of serum potassium was 2.4 mEq/L. […] Secondary causes of HypoPP should be suspected if serum potassium levels are below 2 mEq/L. […] Creatine phosphokinase (CPK) level rises during attacks. […] In one study, transtubular potassium concentration gradient (TTKG) and potassium-creatinine ratio (K/C) distinguished primary hypokalemic PP from secondary PP resulting from a large deficit of potassium.
  • #2 Periodic Paralyses Workup: Diagnostic Criteria, Laboratory Studies, Electrodiagnostic Studies
    https://emedicine.medscape.com/article/1171678-workup
    In HypoPP1 and HypoPP2 patients, the increase is not significantly different from the control subjects (about 5%). […] In the long exercise test, the muscle is contracted for 5 minutes, with brief (3- to 4-second) rests every 15 seconds to prevent muscle ischemia. […] The CMAP is recorded every minute during exercise and every 12 minutes after exercise for a period of 30 minutes or until no further decrement is observed in the amplitude of CMAP. […] Percentage of decrement is calculated by subtracting the smallest amplitude after exercise from the greatest amplitude after exercise and dividing it by the greatest amplitude after exercise. […] After a brief increase in CMAP amplitude, a decrease of more than 40% in the CMAP amplitude after 20 minutes is considered abnormal. […] An abnormal result is highly suggestive of periodic paralyses (98% specificity) but does not distinguish between hyperkalemic, hypokalemic, and thyrotoxic periodic paralyses.
  • #2 Review of the Diagnosis and Treatment of Periodic Paralysis
    https://pmc.ncbi.nlm.nih.gov/articles/PMC5867231/
    Genetic testing identifies a heterozygous pathogenic mutation in 60% to 70% of patients meeting clinical criteria. […] In the absence of an identified genetic mutation in approximately 30% of patients, periodic paralysis subtypes can be distinguished on the basis of clinical presentation, serum potassium levels during attacks, and pattern of abnormalities on long exercise testing. […] Electrodiagnostic testing has been a mainstay to demonstrate evidence of muscle fiber changes in excitability in the muscle channelopathies. […] The primary diagnostic criterion is documentation of the KCNJ2 mutation. […] Management of individuals with AndersenTawil syndrome requires the coordinated input of a neurologist familiar with the treatment of periodic paralysis and a cardiologist familiar with the treatment of cardiac arrhythmias. […] Treatment for acute attacks of weakness or for chronic suppression of attacks of weakness in individuals with AndersenTawil syndrome depends on whether the attack is associated with high or low levels of potassium, and treatment needs to be individualized for each patient.
  • #2 Periodic Paralyses Workup: Diagnostic Criteria, Laboratory Studies, Electrodiagnostic Studies
    https://emedicine.medscape.com/article/1171678-workup
    These changes are more marked in hypokalemic PP than in hyperkalemic PP. […] In the latter, the vacuoles are small and peripherally located. […] Reports of muscle biopsy findings in PC are few and the vacuolar changes are less frequent. […] Signs of myopathy include muscle fiber size variability, split fibers, and internal nuclei. […] Muscle fiber atrophy may be present in clinically affected muscles. […] Tubular aggregates may be seen in some patients. […] Tubular aggregates are seen in type II fibers. […] They are subsarcolemmal in location. […] This abnormality is seen only in hypokalemic PP. […] Muscle fiber necrosis is rare.
  • #2 Primary Periodic Paralysis: Causes, Symptoms, and Treatment
    https://www.webmd.com/brain/primary-periodic-paralysis
    Primary periodic paralysis (PPP) is a group of rare diseases that temporarily make muscles stiff, weak, or unable to move. These episodes can last from a few minutes to a few days, depending on the type of PPP you have. […] It often takes time to get the right diagnosis for PPP. Its a rare condition, and its symptoms are similar to those of more common health problems. Plus, many doctors arent very familiar with it. You may need to see a specialist with expertise in neuromuscular conditions, like a neurologist or a physical medicine and rehabilitation specialist, to get the right diagnosis. […] To figure out if you or your child has PPP and to find out the type of the disease, your doctor might ask questions, like: When did the symptoms start? Does anyone else in your family have PPP? What happens during the episodes? Have you noticed specific symptoms, like weak muscles or a fast or irregular heartbeat? What seems to bring on the attacks? For example, do they tend to happen along with certain foods or after exercise?
  • #2 Paralysis: Definition and Patient Education
    https://www.healthline.com/health/paralysis
    Diagnosing paralysis is often easy, especially when your loss of muscle function is obvious. […] For internal body parts where paralysis is more difficult to identify, your doctor may use X-rays, CT scans, MRI scans, or other imaging studies. […] If you experience a spinal cord injury, your doctor may use myelography to assess your condition. In this procedure, theyll insert a special dye into the nerves in your spinal cord. This will help them see your nerves more clearly on X-rays. They may also perform an electromyography. In this procedure, theyll use sensors to measure electrical activity in your muscles.
  • #2 Bell’s Palsy Diagnosis: Now What? | Facial Paralysis Institute
    https://facialparalysisinstitute.com/blog/bells-palsy-diagnosis-now-what/
    A Bells palsy diagnosis can be scary and overwhelming if you dont know where to turn for help. […] A lot of research has been done over the years on the condition and most recent research suggests that Bells palsy is caused by the reactivation of a virus (herpes simplex virus) in the temporal bone behind the ear. […] It is crucial that any person who experiences the sudden onset of facial paralysis go to the emergency room right away. […] The only way to determine if it is in fact Bells palsy is to rule out other serious conditions like Lyme disease, tumors, or aneurism through testing and a thorough evaluation. […] When you are diagnosed with Bells palsy you will need to begin a course of anti-viral medication right away, as well as a high dose of a steroid such as prednisone. […] Patients should then visit a facial paralysis and facial nerve expert like Dr. Azizzadeh for the best Bells palsy treatment.