Myasthenia gravis
Diagnostyka i diagnoza

Myasthenia gravis (MG) jest autoimmunologicznym zaburzeniem złącza nerwowo-mięśniowego, charakteryzującym się nużliwym osłabieniem mięśni, które nasila się po wysiłku i poprawia po odpoczynku. Diagnostyka opiera się na szczegółowym wywiadzie, badaniu fizykalnym oraz testach przyłóżkowych, takich jak test z lodem (czułość 76,9%, swoistość 98,3%) i test edrofoniowy, choć ten ostatni jest rzadziej stosowany ze względu na ryzyko działań niepożądanych. Kluczowe znaczenie mają badania serologiczne wykrywające przeciwciała przeciw receptorom acetylocholiny (AChR) obecne u 80-85% pacjentów z uogólnioną postacią oraz przeciwciała MuSK (40-70% w seronegatywnej MG) i LRP4 (2-50%). Metody diagnostyczne obejmują radioimmunoprecypitację (RIPA) jako złoty standard, ELISA oraz nowoczesne testy oparte na komórkach (CBA), które zwiększają wykrywalność przeciwciał u pacjentów seronegatywnych.

Diagnoza Myasthenia gravis

Myasthenia gravis (miastenia) jest autoimmunologicznym zaburzeniem złącza nerwowo-mięśniowego charakteryzującym się nużliwym osłabieniem mięśni. Diagnoza tej choroby może być trudna, ponieważ jej objawy – osłabienie mięśni i męczliwość – są niespecyficzne i mogą być spowodowane wieloma innymi schorzeniami. Postawienie prawidłowej diagnozy często wymaga połączenia badania klinicznego, testów serologicznych oraz badań elektrofizjologicznych.12

Badanie kliniczne

Diagnoza myasthenia gravis rozpoczyna się od dokładnego wywiadu lekarskiego i badania fizykalnego. Lekarz zbiera informacje o objawach, ich nasileniu, zmienności w ciągu dnia oraz czynnikach, które je nasilają lub łagodzą. Szczególnie istotny jest wywiad dotyczący nużliwego osłabienia mięśni, które nasila się po wysiłku, a poprawia po odpoczynku. Charakterystyczne objawy obejmują opadanie powiek (ptoza), podwójne widzenie (diplopia), trudności w żuciu, połykaniu, mówieniu oraz osłabienie mięśni kończyn.34

Podczas badania fizykalnego neurolog może przeprowadzić testy zmierzające do oceny zmęczenia mięśni, takie jak prośba o długotrwałe patrzenie w górę bez mrugania (test na osłabienie mięśni powiek), utrzymywanie ramion w wyciągniętej pozycji, czy wchodzenie po schodach. Obserwacja narastającego osłabienia mięśni po powtarzanym wysiłku jest kluczowym elementem podejrzenia miastenii.5

Testy przyłóżkowe

W ramach badania neurologicznego mogą zostać przeprowadzone specjalne testy przyłóżkowe, które pomagają w rozpoznaniu myasthenia gravis:

  • Test z lodem (ice pack test) – stosowany głównie w przypadku podejrzenia ocznej postaci miastenii. Polega na położeniu lodu na opadającą powiekę na około 2-5 minut. Poprawa funkcji mięśnia po ochłodzeniu sugeruje miastenię. Test ten ma wysoką czułość i swoistość, odpowiednio 76,9% i 98,3%.67
  • Test edrofoniowy (test z Tensilonem) – polega na dożylnym podaniu edrofonium chlorku, który blokuje rozkład acetylocholiny, powodując tymczasową poprawę siły mięśniowej u osób z miastenią. Ze względu na ryzyko działań niepożądanych (w tym bradykardii) oraz problemy z dostępnością leku, test ten jest obecnie rzadziej wykonywany.89

Badania laboratoryjne

Najważniejszym badaniem laboratoryjnym w diagnostyce myasthenia gravis jest oznaczenie przeciwciał skierowanych przeciwko receptorom acetylocholiny (AChR) lub innym białkom złącza nerwowo-mięśniowego.10

Badania przeciwciał

W diagnostyce myasthenia gravis kluczowe znaczenie mają badania serologiczne, pozwalające na wykrycie autoprzeciwciał charakterystycznych dla tej choroby:1112

  • Przeciwciała przeciw receptorom acetylocholiny (AChR) – obecne u około 80-85% pacjentów z uogólnioną postacią miastenii i u 50-70% pacjentów z oczną postacią choroby. Występują trzy rodzaje przeciwciał anty-AChR: wiążące, modulujące i blokujące, przy czym przeciwciała wiążące są najczęściej oznaczane w diagnostyce. Test na przeciwciała AChR charakteryzuje się wysoką swoistością (nawet do 100%) i dobrą czułością dla postaci uogólnionej.1314
  • Przeciwciała przeciw kinazy specyficznej dla mięśni (MuSK) – wykrywane u około 40-70% pacjentów z ujemnym wynikiem przeciwciał AChR (tzw. seronegatywna miastenia). Pacjenci z przeciwciałami anty-MuSK często prezentują bardziej nasilone osłabienie mięśni opuszkowych, mogą mieć zanik języka i mięśni twarzy oraz zajęcie mięśni szyi, barków i oddechowych bez osłabienia mięśni ocznych.1516
  • Przeciwciała przeciw białku 4 związanemu z receptorem lipoproteinowym (LRP4) – występują u około 2-50% pacjentów bez przeciwciał AChR i MuSK.1718
  • Przeciwciała przeciw mięśniom poprzecznie prążkowanym (anty-SM) – obecne u około 70-80% pacjentów z grasiczakiem i miastenią w wieku poniżej 40 lat oraz u 30% dorosłych pacjentów z miastenią bez grasiczaka. Obejmują przeciwciała przeciwko titinie, receptorowi rianodynowemu, miozynie i alfa-aktynie.19

Warto zaznaczyć, że metody oznaczania przeciwciał różnią się czułością i swoistością. Najczęściej stosowane metody to:2021

  • Radioimmunoprécipitacja (RIPA) – uważana za „złoty standard” w wykrywaniu przeciwciał AChR, charakteryzuje się wysoką czułością i swoistością.
  • Test immunoenzymatyczny (ELISA) – łatwiejszy w wykonaniu, ale mniej swoisty i czuły niż RIPA.
  • Metoda oparta na komórkach (CBA) – nowsza technika, pozwalająca na wykrycie przeciwciał u pacjentów uważanych wcześniej za seronegatywnych.

Inne badania laboratoryjne

W ramach diagnostyki miastenii wykonuje się również badania mające na celu wykluczenie innych chorób autoimmunologicznych, które mogą współwystępować z myasthenia gravis:22

Badania elektrofizjologiczne

Badania elektrofizjologiczne są szczególnie istotne w diagnostyce pacjentów z podejrzeniem myasthenia gravis, którzy mają ujemne wyniki testów na przeciwciała. Pozwalają one na obiektywną ocenę zaburzeń przewodnictwa nerwowo-mięśniowego.2324

Badanie przewodnictwa nerwowego z powtarzaną stymulacją

Badanie przewodnictwa nerwowego z powtarzaną stymulacją (RNS – repetitive nerve stimulation) polega na wielokrotnej stymulacji nerwu elektrycznymi impulsami i rejestrowaniu odpowiedzi mięśniowej. U pacjentów z myasthenia gravis obserwuje się charakterystyczny spadek (dekrementację) amplitudy odpowiedzi mięśniowej przy powtarzanych stymulacjach, co świadczy o zaburzeniach transmisji nerwowo-mięśniowej.2526

RNS wykazuje nieprawidłowości u około 50-70% pacjentów z uogólnioną miastenią, ale ma mniejszą czułość w przypadku ocznej postaci choroby. Badanie to ma czułość około 75-80%.2728

Elektromiografia włókna pojedynczego

Elektromiografia włókna pojedynczego (SFEMG – single-fiber electromyography) jest najbardziej czułym badaniem elektrofizjologicznym w diagnostyce myasthenia gravis, z czułością sięgającą 95-99%. Badanie to mierzy zmienność czasu wyzwalania potencjałów czynnościowych w pojedynczych włóknach mięśniowych należących do tej samej jednostki ruchowej. U pacjentów z miastenią obserwuje się zwiększone „drżenie” (jitter), które jest wyrazem zaburzeń przewodnictwa w złączu nerwowo-mięśniowym.2930

Prawidłowy wynik SFEMG w klinicznie osłabionym mięśniu praktycznie wyklucza rozpoznanie miastenii. Badanie to jest szczególnie przydatne u pacjentów z ujemnymi wynikami testów na przeciwciała i RNS. Jednak ze względu na wymagania techniczne i ograniczoną dostępność, nie jest wykonywane rutynowo w każdym przypadku.3132

Badania obrazowe

Badania obrazowe klatki piersiowej są niezbędnym elementem diagnostyki u pacjentów z rozpoznaną lub podejrzewaną myasthenia gravis. Służą one głównie do oceny grasicy i wykluczenia grasiczaka.3334

Tomografia komputerowa i rezonans magnetyczny

Tomografia komputerowa (TK) klatki piersiowej jest badaniem z wyboru w ocenie grasicy u pacjentów z miastenią. U około 10-15% pacjentów z myasthenia gravis występuje grasiczak, a u wielu innych obserwuje się przerost grasicy (hiperplazję). Wykrycie grasiczaka ma istotne znaczenie dla dalszego postępowania, gdyż wymaga leczenia operacyjnego (tymektomii).3536

W przypadku pacjentów z oczną postacią miastenii, wskazane jest wykonanie rezonansu magnetycznego (MRI) głowy i oczodołów w celu wykluczenia zmian uciskowych nerwów czaszkowych lub zmian w pniu mózgu, które mogą imitować objawy ocznej miastenii.3738

Klasyfikacja i ocena ciężkości choroby

Po postawieniu diagnozy myasthenia gravis, pacjenci zostają sklasyfikowani według stopnia zaawansowania choroby. Jedna z powszechnie stosowanych klasyfikacji dzieli miastenię na pięć klas:3940

  • Klasa I: Osłabienie mięśni dotyczy tylko mięśni ocznych (postać oczna)
  • Klasa II: Łagodne osłabienie mięśni
  • Klasa III: Umiarkowane osłabienie mięśni
  • Klasa IV: Ciężkie osłabienie mięśni
  • Klasa V: Ciężkie osłabienie mięśni wpływające na oddychanie, wymagające intubacji lub wentylacji mechanicznej

Ocena ciężkości choroby jest istotna dla wyboru odpowiedniego leczenia i monitorowania jego skuteczności.41

Wyzwania diagnostyczne

Diagnoza myasthenia gravis może być trudna z kilku powodów:4243

  • Objawy mogą być niespecyficzne i przypominać inne schorzenia neurologiczne
  • Nasilenie objawów może się zmieniać w ciągu dnia i w odpowiedzi na różne czynniki
  • U części pacjentów (do 15%) nie wykrywa się przeciwciał specyficznych dla choroby (tzw. miastenia seronegatywna)
  • Objawy oczne mogą być jedynym przejawem choroby, co utrudnia diagnostykę

Średni czas od wystąpienia pierwszych objawów do postawienia diagnozy wynosi około 1-3 lat, a w niektórych przypadkach może być nawet dłuższy.4445

Miastenia seronegatywna

Około 6-12% pacjentów z myasthenia gravis ma ujemne wyniki testów na obecność przeciwciał AChR i MuSK. Są to przypadki tzw. miastenii seronegatywnej. W takich sytuacjach diagnoza opiera się głównie na obrazie klinicznym i wynikach badań elektrofizjologicznych (szczególnie SFEMG).4647

W ostatnich latach rozwój bardziej czułych metod diagnostycznych, takich jak metody oparte na komórkach (CBA), pozwala na wykrycie przeciwciał u części pacjentów wcześniej klasyfikowanych jako seronegatywni.4849

Nowe kierunki w diagnostyce

Badania nad nowymi metodami diagnostycznymi myasthenia gravis koncentrują się na zwiększeniu czułości i swoistości testów, skróceniu czasu potrzebnego do postawienia diagnozy oraz identyfikacji nowych biomarkerów choroby.5051

Obiecujące kierunki badań obejmują:5253

  • Zastosowanie spektroskopii w podczerwieni w połączeniu z metodami analizy wielowymiarowej i uczeniem maszynowym do szybkiej i dokładnej diagnozy miastenii
  • Identyfikację nowych autoprzeciwciał związanych z chorobą
  • Rozwój bardziej czułych metod wykrywania znanych przeciwciał
  • Badania nad rolą mikroRNA i mikrobioty jelitowej jako potencjalnych biomarkerów choroby

Nowe metody diagnostyczne, takie jak spektroskopia FTIR (Fourier-transform infrared spectroscopy) w połączeniu z uczeniem maszynowym, pozwalają na osiągnięcie dokładności, czułości i swoistości rzędu 100% w diagnostyce myasthenia gravis, oferując szybkie, tanie i wiarygodne rozpoznanie choroby.54

Podejście interdyscyplinarne

Ze względu na złożoność obrazu klinicznego i możliwość współwystępowania innych chorób autoimmunologicznych, diagnostyka myasthenia gravis wymaga często podejścia interdyscyplinarnego. W proces diagnostyczny mogą być zaangażowani: neurolog, okulista, immunolog, radiolog, a w przypadku podejrzenia grasiczaka – także chirurg klatki piersiowej.5556

Pacjenci z podejrzeniem miastenii powinni być kierowani do ośrodków specjalizujących się w diagnostyce i leczeniu chorób nerwowo-mięśniowych, gdzie dostępne są wszystkie niezbędne metody diagnostyczne i gdzie pracują specjaliści z doświadczeniem w rozpoznawaniu i leczeniu tej choroby.57

Podsumowanie

Diagnostyka myasthenia gravis opiera się na połączeniu dokładnego badania klinicznego, testów laboratoryjnych (przede wszystkim oznaczenie przeciwciał AChR i MuSK), badań elektrofizjologicznych (RNS i SFEMG) oraz badań obrazowych. Nie istnieje pojedynczy test, który pozwoliłby na jednoznaczne rozpoznanie choroby u wszystkich pacjentów, dlatego ważne jest kompleksowe podejście diagnostyczne.5859

Wczesne i prawidłowe rozpoznanie myasthenia gravis ma kluczowe znaczenie dla rozpoczęcia odpowiedniego leczenia, które może znacząco poprawić jakość życia pacjentów i zapobiec poważnym powikłaniom choroby. Postęp w dziedzinie metod diagnostycznych, w tym rozwój bardziej czułych testów na przeciwciała i nowych biomarkerów, przyczynia się do poprawy procesu diagnostycznego i skrócenia czasu potrzebnego do postawienia diagnozy.6061

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 Diagnosis of Myasthenia Gravis
    https://www.mdpi.com/2077-0383/10/8/1736
    The diagnosis of autoimmune Myasthenia Gravis (MG) remains clinical and rests on the history and physical findings of fatigable, fluctuating muscle weakness in a specific distribution. […] Ancillary bedside tests and laboratory methods help confirm the synaptic disorder, define its type and severity, classify MG according to the causative antibodies, and assess the effect of treatment objectively. […] In a patient with clinical features of MG, serum testing for AChR-Ab is the first recommended step in diagnosis by most recent guidelines and expert opinions. […] The most widely studied are the binding AChR-Ab, using a radioimmunoprecipitation assay (RIPA). […] The test has a very high specificity, so the detection of elevated titers in the appropriate clinical setting is diagnostic of AChR-myasthenia, and further testing may not be necessary.
  • #2 Diagnosis of Myasthenia Gravis – PubMed
    https://pubmed.ncbi.nlm.nih.gov/33923771/
    The diagnosis of autoimmune Myasthenia Gravis (MG) remains clinical and rests on the history and physical findings of fatigable, fluctuating muscle weakness in a specific distribution. […] Ancillary bedside tests and laboratory methods help confirm the synaptic disorder, define its type and severity, classify MG according to the causative antibodies, and assess the effect of treatment objectively. […] We present an update on the tests used in the diagnosis and follow-up of MG and the suggested approach for their application.
  • #3 Diagnosis – Myasthenia Gravis (MG) – Diseases | Muscular Dystrophy Association
    https://www.mda.org/disease/myasthenia-gravis/diagnosis
    Weakness and fatigue are common complaints in the general population, but the degree and pattern of these symptoms particularly diplopia, ptosis, and other signs of weakness in the eye muscles should alert a neurologist to the possibility of myasthenia gravis (MG). […] A neurologist will ask many questions and conduct a physical exam to determine the extent of weakness. […] To look for evidence of increased weakness following exertion, a neurologist might ask the patient to look up without blinking for one or two minutes, hold the arms out for as long as possible, or climb up steps. […] An ice pack test can be used as a part of a neurologic examination for patients with ptosis (weakness of the eyelid muscles). Cooling the eyelid muscles helps patients to overcome ptosis and serves as an indication that the patient might have MG.
  • #4 Diagnosis – how is Myasthenia Gravis confirmed? – Myasthenia Gravis
    https://www.myasthenia.au/background/diagnosis/
    The symptoms of Myasthenia Gravis (MG) are common complaints that can be found in a variety of medical and even psychological conditions. […] Generally an individual with potential symptoms of MG would be referred to a neurologist for diagnosis, but sometimes an ophthalmologist or an immunologist will also make the diagnosis. […] This may include a careful family history, past medical history and medication history; as the disorders that can mimic MG can occur for many different reasons. […] It is not often realised that there is no single test that absolutely proves the diagnosis of MG. However, the combination of history, clinical examination, nerve tests and blood tests often establishes the diagnosis beyond reasonable doubt. […] If the doctor suspects MG, further tests are usually carried out.
  • #5 Diagnosis – Myasthenia Gravis (MG) – Diseases | Muscular Dystrophy Association
    https://www.mda.org/disease/myasthenia-gravis/diagnosis
    Weakness and fatigue are common complaints in the general population, but the degree and pattern of these symptoms particularly diplopia, ptosis, and other signs of weakness in the eye muscles should alert a neurologist to the possibility of myasthenia gravis (MG). […] A neurologist will ask many questions and conduct a physical exam to determine the extent of weakness. […] To look for evidence of increased weakness following exertion, a neurologist might ask the patient to look up without blinking for one or two minutes, hold the arms out for as long as possible, or climb up steps. […] An ice pack test can be used as a part of a neurologic examination for patients with ptosis (weakness of the eyelid muscles). Cooling the eyelid muscles helps patients to overcome ptosis and serves as an indication that the patient might have MG.
  • #6 Myasthenia gravis – Wikipedia
    https://en.wikipedia.org/wiki/Myasthenia_gravis
    Applying ice for 25 minutes to the muscles reportedly has a sensitivity and specificity of 76.9% and 98.3%, respectively, for the identification of MG. […] This test requires the intravenous administration of edrophonium chloride or neostigmine, drugs that block the breakdown of acetylcholine by cholinesterase. […] A chest X-ray may identify widening of the mediastinum suggestive of thymoma, but computed tomography or magnetic resonance imaging (MRI) are more sensitive ways to identify thymomas and are generally done for this reason. […] The forced vital capacity may be monitored at intervals to detect increasing muscular weakness.
  • #7 Myasthenia Gravis Workup: Laboratory Tests, Radiography, CT, and MRI, Electrodiagnostic Studies
    https://emedicine.medscape.com/article/1171206-workup
    It is essential to rule out mass lesions compressing the cranial nerves in strictly ocular MG. […] Routine motor and sensory nerve conduction studies (NCS) in myasthenia gravis (MG) must not be omitted before embarking on electrodiagnostic studies that demonstrate a defect of neuromuscular transmission. […] SFEMG provides the most sensitive measure of myasthenia gravis. A normal SFEMG of a clinically weak muscle effectively rules out the diagnosis of MG. […] In patients with myasthenia gravis (MG), the number of AChRs at the NMJ is low, which results in a decreased number of interactions between ACh and its receptor. […] The ice pack test (ie, placing ice over the lid) has gained interest among ophthalmologists for assessing improvement in ptosis and diplopia in ocular myasthenia gravis (MG). […] Routine histopathology is not part of the evaluation of myasthenia gravis (MG).
  • #8 Myasthenia Gravis – Harvard Health
    https://www.health.harvard.edu/a_to_z/myasthenia-gravis-a-to-z
    Your doctor will ask detailed questions about your symptoms and will examine you. He or she will test your muscle strength and reflexes, eyelid strength and eye movements. […] If the results suggest myasthenia gravis, some specific tests may be done to confirm the diagnosis. These include: […] Blood tests. The test will check for the presence of the specific antibodies associated with myasthenia gravis, including the acetylcholine receptor antibodies that cause myasthenia gravis. […] Electrodiagnostic testing. Also called electromyogram (EMG), nerve conduction studies (NCS) and/or repetitive nerve stimulation (RNS), this testing is done by the insertions of tiny needles into muscles or near nerves. […] Tensilon test, also called the edrophonium test. Edrophonium (brand name Tensilon) is a drug that temporarily increases the amount of acetylcholine in the neuromuscular junction. […] In addition, magnetic resonance imaging (MRI) scans or computed tomography (CT) scans may be done to look for abnormalities of the thymus. […] Additional testing, including blood tests or other imaging tests, often is suggested to exclude other possible explanations for a person’s symptoms.
  • #9 Myasthenia Gravis: Causes, Symptoms, and Treatment | Doctor
    https://patient.info/doctor/myasthenia-gravis-pro
    The diagnosis is based on clinical features, the benefit of cholinesterase inhibitors, the detection of specific autoantibodies (anti-AChR, anti-MuSK or anti-LRP4), and electrophysiological tests. If the diagnosis of MG is suspected, refer the patient to a neurology unit for further investigations. […] The edrophonium (Tensilon) test involves intravenous administration of a short-acting acetylcholinesterase inhibitor while watching for a transient improvement in muscle strength. Although it has a high sensitivity (95%) for generalised MG, it is now rarely done, as it can result in life-threatening bradycardia and requires immediate access to resuscitation facilities. […] Serum anti-acetylcholine receptor (ACh-R) antibody testing is the first-line investigation for non-urgent patients. They are highly specific and are present in 85% of cases of generalised MG.
  • #10
    https://www.nhs.uk/conditions/myasthenia-gravis/diagnosis/
    Myasthenia gravis can be difficult to diagnose and you may need several tests. […] The main test for myasthenia gravis is a blood test to look for a type of antibody (produced by the immune system) that stops signals being sent between the nerves and muscles. […] A high level of these antibodies usually means you have myasthenia gravis. […] The blood test may be repeated at a later date if the result is normal but your symptoms continue or get worse. […] Your doctor may also suggest an electrical test of your nerves and muscles. […] The electrical recordings can show whether the signals sent from the nerves to the muscles are being disrupted, which may be a sign of myasthenia gravis. […] You may also have a CT scan or MRI scan of your chest to check if your thymus gland is bigger than usual or has grown abnormally (a thymoma). […] If it’s still not clear what’s causing your symptoms, the doctor may recommend a test called an edrophonium test. […] If you have a sudden but temporary improvement in muscle strength after the injection, it’s likely you have myasthenia gravis.
  • #11 Diagnosing MG | Myasthenia Gravis Foundation of America
    http://myasthenia.org/understanding-mg/diagnosing-mg/
    In addition to a complete medical and neurological evaluation, several tests may be used to establish an MG diagnosis, starting with the clinical exam. […] A diagnosis of MG is confirmed via several methods, including the following: […] Acetylcholine receptor (AChR) antibody testing Blood test to detect abnormal antibodies. Approximately 85% of people diagnosed with MG test positive for this group of antibodies. […] Anti-MuSK antibody testing Blood test for MG patients who have tested negative for the acetylcholine antibody (AChR). Approximately 6% of MG patients without AChR antibodies test positive for the anti-MUSK antibody. […] LPR4 antibody testing Blood test that may be given to patients who test negative for AChR and MuSK antibodies. This is a newer antibody found to cause MG.
  • #12 Myasthenia Gravis Workup: Laboratory Tests, Radiography, CT, and MRI, Electrodiagnostic Studies
    https://emedicine.medscape.com/article/1171206-workup
    The serum titer of the acetyl-choline receptor antibodies does not correlate with disease severity. Their value is mainly in the initial diagnosis of myasthenia gravis (MG), or in the case of modulating antibodies as a potential marker for thymoma. Unlike anti-AChR-abs, there appears to be a correlation between anti-MuSK titers, disease severity, and the application of immunomodulatory therapy. […] The anti-acetylcholine receptor (AChR) antibody (Ab) test is reliable for diagnosing autoimmune myasthenia gravis (MG). It is highly specific (as high as 100%, according to Padua et al). Results are positive in as many as 90% of patients who have generalized MG but in only 50-70% of those who have only ocular MG; thus false negatives are common in cases of purely ocular MG. […] Anti-AChR antibodies are predominantly IgG1 and IgG3. They effectively activate complement, leading to the formation of the membrane attack complex resulting in damage to the NMJ in the form of simplification of postsynaptic junctional folds, removal of AChR from the membrane, and widening of the synaptic cleft.
  • #13 Myasthenia Gravis Workup: Laboratory Tests, Radiography, CT, and MRI, Electrodiagnostic Studies
    https://emedicine.medscape.com/article/1171206-workup
    The serum titer of the acetyl-choline receptor antibodies does not correlate with disease severity. Their value is mainly in the initial diagnosis of myasthenia gravis (MG), or in the case of modulating antibodies as a potential marker for thymoma. Unlike anti-AChR-abs, there appears to be a correlation between anti-MuSK titers, disease severity, and the application of immunomodulatory therapy. […] The anti-acetylcholine receptor (AChR) antibody (Ab) test is reliable for diagnosing autoimmune myasthenia gravis (MG). It is highly specific (as high as 100%, according to Padua et al). Results are positive in as many as 90% of patients who have generalized MG but in only 50-70% of those who have only ocular MG; thus false negatives are common in cases of purely ocular MG. […] Anti-AChR antibodies are predominantly IgG1 and IgG3. They effectively activate complement, leading to the formation of the membrane attack complex resulting in damage to the NMJ in the form of simplification of postsynaptic junctional folds, removal of AChR from the membrane, and widening of the synaptic cleft.
  • #14 Myasthenia Gravis: Practice Essentials, Background, Anatomy
    https://emedicine.medscape.com/article/1171206-overview
    The anti-acetylcholine receptor (AChR) antibody test for diagnosing MG has the following characteristics: […] High specificity (up to 100%) […] Positive in as many as 85% of patients who have generalized MG […] Positive in only 50% of patients who have purely ocular MG. […] False-positive anti-AChR antibody test results have been reported in patients with the following: […] Thymoma without MG […] Lambert-Eaton myasthenic syndrome […] Small cell lung cancer […] Rheumatoid arthritis treated with penicillamine […] 1-3% of the population older than 70 years. […] Assays for the following antibodies may also be useful: […] Anti-MuSK antibody (present in about half of patients with negative results for anti-AChR antibody) […] Anti-lipoprotein-related protein 4 (LRP4) antibody
  • #15 Myasthenia Gravis Workup: Laboratory Tests, Radiography, CT, and MRI, Electrodiagnostic Studies
    https://emedicine.medscape.com/article/1171206-workup
    One should be aware that laboratory testing for autoantibodies using different methods yields different sensitivity and specificty. The diagnostic accuracy varies between cell-based assay (CBA) and radioimmunoprecipitation assay (RIPA) and enzyme-linked immunosorbent assay (ELISA) and type of ELISA used. […] The antistriated muscle (anti-SM) Ab refers to a class of antibodies against components of skeletal muscle including titin, the ryanodine receptor, myosin, and alpha-actin. Anti-SM Ab is present in about 7080%of patients with thymoma and MG who are younger than 40 years, and 30% of adult patients with MG without thymoma and 24% of patients with thymoma without MG. […] About half of the patients with negative results for anti-AChR Ab (seronegative MG) may have positive test results for antibody to muscle-specific kinase (MuSK), a receptor tyrosine kinase that is essential for neuromuscular junction development.
  • #16 Myasthenia Gravis Workup: Laboratory Tests, Radiography, CT, and MRI, Electrodiagnostic Studies
    https://emedicine.medscape.com/article/1171206-workup
    Anti-MuSK-positive individuals tend to have more pronounced bulbar weakness and may have tongue and facial atrophy. They may have neck, shoulder and respiratory involvement without ocular weakness. […] Lipoprotein-related protein 4 is present on the postsynaptic membrane and is a coreceptor for agrin and is essential for for agrin-induced activation of MuSK in concert with Dok-7. […] About 8090% of MG patients have detectable serum antibodies against AChRs with 4070% of the remaining patients being positive for anti-MuSK antibodies and 250% for anti-LRP4 antibodies. […] Testing for rheumatoid factor and antinuclear antibodies (ANAs) is indicated to rule out systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). […] Imaging of the chest in myasthenia gravis (MG) is used to rule out tumors.
  • #17 Myasthenia Gravis Workup: Laboratory Tests, Radiography, CT, and MRI, Electrodiagnostic Studies
    https://emedicine.medscape.com/article/1171206-workup
    Anti-MuSK-positive individuals tend to have more pronounced bulbar weakness and may have tongue and facial atrophy. They may have neck, shoulder and respiratory involvement without ocular weakness. […] Lipoprotein-related protein 4 is present on the postsynaptic membrane and is a coreceptor for agrin and is essential for for agrin-induced activation of MuSK in concert with Dok-7. […] About 8090% of MG patients have detectable serum antibodies against AChRs with 4070% of the remaining patients being positive for anti-MuSK antibodies and 250% for anti-LRP4 antibodies. […] Testing for rheumatoid factor and antinuclear antibodies (ANAs) is indicated to rule out systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). […] Imaging of the chest in myasthenia gravis (MG) is used to rule out tumors.
  • #18 Diagnosing MG | Myasthenia Gravis Foundation of America
    http://myasthenia.org/understanding-mg/diagnosing-mg/
    Cell-based assay testing a more sensitive type of blood test which may be able to detect AChR antibodies in patients who were previously thought to be seronegative. In a 2022 study published in the Journal of Neuroimmunology, 18.2% of seronegative patients tested positive for AChR antibodies using cell-based assay testing. […] Ice Pack tests Ice Pack tests are examinations performed by specialists to evaluate strength and recovery responses that could be consistent with an MG diagnosis. […] CT scan A scan of the chest is commonly performed for those with confirmed MG or MG symptoms to look for thymoma, a tumor of the thymus gland that can cause MG. […] Electromyography (EMG) Repetitive nerve stimulations (RNS) applying electrical shocks are often used to gauge muscle response and action potential and whether results are consistent with an MG diagnosis.
  • #19 Myasthenia Gravis Workup: Laboratory Tests, Radiography, CT, and MRI, Electrodiagnostic Studies
    https://emedicine.medscape.com/article/1171206-workup
    One should be aware that laboratory testing for autoantibodies using different methods yields different sensitivity and specificty. The diagnostic accuracy varies between cell-based assay (CBA) and radioimmunoprecipitation assay (RIPA) and enzyme-linked immunosorbent assay (ELISA) and type of ELISA used. […] The antistriated muscle (anti-SM) Ab refers to a class of antibodies against components of skeletal muscle including titin, the ryanodine receptor, myosin, and alpha-actin. Anti-SM Ab is present in about 7080%of patients with thymoma and MG who are younger than 40 years, and 30% of adult patients with MG without thymoma and 24% of patients with thymoma without MG. […] About half of the patients with negative results for anti-AChR Ab (seronegative MG) may have positive test results for antibody to muscle-specific kinase (MuSK), a receptor tyrosine kinase that is essential for neuromuscular junction development.
  • #20 Myasthenia Gravis Workup: Laboratory Tests, Radiography, CT, and MRI, Electrodiagnostic Studies
    https://emedicine.medscape.com/article/1171206-workup
    One should be aware that laboratory testing for autoantibodies using different methods yields different sensitivity and specificty. The diagnostic accuracy varies between cell-based assay (CBA) and radioimmunoprecipitation assay (RIPA) and enzyme-linked immunosorbent assay (ELISA) and type of ELISA used. […] The antistriated muscle (anti-SM) Ab refers to a class of antibodies against components of skeletal muscle including titin, the ryanodine receptor, myosin, and alpha-actin. Anti-SM Ab is present in about 7080%of patients with thymoma and MG who are younger than 40 years, and 30% of adult patients with MG without thymoma and 24% of patients with thymoma without MG. […] About half of the patients with negative results for anti-AChR Ab (seronegative MG) may have positive test results for antibody to muscle-specific kinase (MuSK), a receptor tyrosine kinase that is essential for neuromuscular junction development.
  • #21 Diagnosis of Myasthenia Gravis
    https://www.mdpi.com/2077-0383/10/8/1736
    Detection of modulating and blocking AChR-Ab through RIPA is commercially available but adds little diagnostic value. […] The enzyme-linked immunosorbent assay (ELISA) for binding Ab is also available, relying on standard equipment and avoiding work with radioactivity; however, the prevailing opinion seems to be that ELISA is less specific and sensitive than RIPA. […] The pharmacological tests are useful, especially in ocular myasthenia, but logistical problems related to safety, drug availability, and some ambiguity in the choice of the endpoints have limited their use. […] The ice-pack test is recommended by some at this step as well, especially in ocular MG; again, many experts would not include it in the guidelines or suggested algorithms, but there are also proponents of its high accuracy.
  • #22 Myasthenia Gravis Workup: Laboratory Tests, Radiography, CT, and MRI, Electrodiagnostic Studies
    https://emedicine.medscape.com/article/1171206-workup
    Anti-MuSK-positive individuals tend to have more pronounced bulbar weakness and may have tongue and facial atrophy. They may have neck, shoulder and respiratory involvement without ocular weakness. […] Lipoprotein-related protein 4 is present on the postsynaptic membrane and is a coreceptor for agrin and is essential for for agrin-induced activation of MuSK in concert with Dok-7. […] About 8090% of MG patients have detectable serum antibodies against AChRs with 4070% of the remaining patients being positive for anti-MuSK antibodies and 250% for anti-LRP4 antibodies. […] Testing for rheumatoid factor and antinuclear antibodies (ANAs) is indicated to rule out systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). […] Imaging of the chest in myasthenia gravis (MG) is used to rule out tumors.
  • #23 Diagnosis of myasthenia gravis – UpToDate
    https://www.uptodate.com/contents/diagnosis-of-myasthenia-gravis
    Diagnosis of myasthenia gravis […] The diagnosis of MG will be reviewed here. […] Myasthenia gravis (MG) is an autoimmune neuromuscular disorder characterized by fluctuating motor weakness involving ocular, bulbar, limb, and/or respiratory muscles. The weakness is due to an antibody-mediated, immunologic attack directed at proteins in the postsynaptic membrane of the neuromuscular junction (acetylcholine receptors or receptor-associated proteins). […] SEROLOGIC DIAGNOSIS FOR MOST PATIENTS […] Acetylcholine receptor antibody testing […] Second-line antibody testing […] ELECTRODIAGNOSTIC CONFIRMATION FOR SERONEGATIVE AND ATYPICAL PRESENTATIONS […] Nerve conduction testing with repetitive nerve stimulation […] Electromyography […] Single-fiber electromyography […] ADDITIONAL TESTING FOR ATYPICAL PRESENTATIONS
  • #24 Myasthenia gravis: Frequently asked questions | Cleveland Clinic Journal of Medicine
    https://www.ccjm.org/content/90/2/103
    Myasthenia gravis is a disorder of neuromuscular junction transmission, the result of antibodies against the post-synaptic aspect of the neuromuscular junction. Its clinical hallmark is fatigable weakness of skeletal muscles, which tends to vary in location and severity among patients. […] Diagnosis often starts with antibody testing, while electrodiagnostic tests are useful in selected patients. […] Antibody tests are ordered first, followed in some patients by electrodiagnostic and other tests. […] First-line diagnostic tests are typically serologic. […] Anti-AChR antibody (particularly the binding subtype) is highly specific (90%) and very sensitive (up to about 85%) in those with generalized myasthenia gravis. […] Two electrodiagnostic tests—repetitive nerve stimulation and single-fiber electromyography—provide objective evidence of impairment of neuromuscular junction transmission and are helpful in diagnosing myasthenia gravis.
  • #25 Diagnosis – Myasthenia Gravis (MG) – Diseases | Muscular Dystrophy Association
    https://www.mda.org/disease/myasthenia-gravis/diagnosis
    If a physical exam is consistent with MG, a neurologist usually orders a blood test designed to detect antibodies to the acetylcholine (Ach) receptor. […] A blood test for muscle-specific tyrosine kinase (MuSK) antibodies is also available. […] In approximately 90% of patients with MG, a positive test result confirms a diagnosis of MG. […] However, in 6% to 12% of patients with myasthenia may test negative for both AchR antibodies and MuSK antibodies. […] The next step is usually electrodiagnostic testing, in which electrodes are used to measure the electrical signals in muscle. […] In MG, a muscles response to repeated nerve stimulation declines rapidly. […] Repetitive nerve stimulation (RNS) is commonly used, with 75% to 80% accuracy and is described above. […] Single-fiber electromyography (SFEMG) is a more sensitive test (with 95% accuracy) but is less widely available and technically demanding. […] If a diagnosis of MG is confirmed, a CT scan, chest X-rays, or magnetic resonance imaging (MRI) will be used to examine the thymus and look for evidence of a thymic tumor, which occurs in about 15% of people with MG.
  • #26 Myasthenia Gravis Diagnosis | Stanford Health Care
    https://stanfordhealthcare.org/medical-conditions/brain-and-nerves/myasthenia-gravis/diagnosis.html
    Our Stanford neuromuscular doctors have decades of experience in diagnosing myasthenia gravis. Our extensive expertise helps us rule out other possible causes and arrive at the diagnosis quickly. […] We use a variety of techniques to diagnose myasthenia gravis, including: […] Complete medical history and physical examination, including history of any other autoimmune diseases. […] Electrodiagnostic tests (EMG/NCS): Our neuromuscular neurologists assess muscle and nerve function using a machine that measures electrical signals in individual muscles and nerves. […] Particularly useful in myasthenia gravis is the use of single-fiber EMG, which may detect disease even when other tests are negative or inconclusive. […] Laboratory tests: Tests may be performed to look for antibodies in the blood that are associated with myasthenia gravis.
  • #27 Diagnosis – Myasthenia Gravis (MG) – Diseases | Muscular Dystrophy Association
    https://www.mda.org/disease/myasthenia-gravis/diagnosis
    If a physical exam is consistent with MG, a neurologist usually orders a blood test designed to detect antibodies to the acetylcholine (Ach) receptor. […] A blood test for muscle-specific tyrosine kinase (MuSK) antibodies is also available. […] In approximately 90% of patients with MG, a positive test result confirms a diagnosis of MG. […] However, in 6% to 12% of patients with myasthenia may test negative for both AchR antibodies and MuSK antibodies. […] The next step is usually electrodiagnostic testing, in which electrodes are used to measure the electrical signals in muscle. […] In MG, a muscles response to repeated nerve stimulation declines rapidly. […] Repetitive nerve stimulation (RNS) is commonly used, with 75% to 80% accuracy and is described above. […] Single-fiber electromyography (SFEMG) is a more sensitive test (with 95% accuracy) but is less widely available and technically demanding. […] If a diagnosis of MG is confirmed, a CT scan, chest X-rays, or magnetic resonance imaging (MRI) will be used to examine the thymus and look for evidence of a thymic tumor, which occurs in about 15% of people with MG.
  • #28 Myasthenia Gravis: Pathophysiology, Diagnosis, and Management | IntechOpen
    https://www.intechopen.com/online-first/1203224
    For patients suspected of having MG who have negative antibody tests or who may have false-positive antibody results, electrodiagnostic testing is valuable. Evaluating MG typically includes routine nerve conduction studies and EMG, exercise testing, repetitive nerve stimulation (RNS), and single-fiber EMG (SF-EMG). […] RNS are abnormal in over 50-70% of generalized MG patients and are commonly normal in localized ocular MG. […] In generalized MG, anti-AChR antibodies are found in 80% of the cases, and in ocular MG anti-AChR are found in more than 50% of the cases. […] The concentration of anti-MuSK antibodies has a significant correlation with disease severity, making serum anti-MuSK IgG titers valuable biological markers for the disease. […] Single-fiber EMG sensitivity is around 75-90% and specificity ranges from 60-90%. This test evaluates the non-synchronous firing of muscle fibers within the same motor unit, resulting in the electrical observation of increased jitter.
  • #29 Myasthenia Gravis Workup: Laboratory Tests, Radiography, CT, and MRI, Electrodiagnostic Studies
    https://emedicine.medscape.com/article/1171206-workup
    It is essential to rule out mass lesions compressing the cranial nerves in strictly ocular MG. […] Routine motor and sensory nerve conduction studies (NCS) in myasthenia gravis (MG) must not be omitted before embarking on electrodiagnostic studies that demonstrate a defect of neuromuscular transmission. […] SFEMG provides the most sensitive measure of myasthenia gravis. A normal SFEMG of a clinically weak muscle effectively rules out the diagnosis of MG. […] In patients with myasthenia gravis (MG), the number of AChRs at the NMJ is low, which results in a decreased number of interactions between ACh and its receptor. […] The ice pack test (ie, placing ice over the lid) has gained interest among ophthalmologists for assessing improvement in ptosis and diplopia in ocular myasthenia gravis (MG). […] Routine histopathology is not part of the evaluation of myasthenia gravis (MG).
  • #30 Myasthenia Gravis – EyeWiki
    https://eyewiki.org/Myasthenia_Gravis
    Edrophonium chloride inhibits acetylcholinesterase, thereby prolonging the presence of acetylcholine at the neuromuscular junction. This results in enhanced muscle strength. […] This is the most frequently used electrodiagnostic test for MG, with specificity of 95%. […] The single fiber EMG is highly sensitive for ocular myasthenia, with a sensitivity of 88-99%. […] The sleep test is a simple clinical test. The patient is asked to note if there is marked improvement in symptoms upon awakening. […] This assay measures three different anti-ACh receptor antibodies found in MG: binding antibodies, blocking antibodies, and modulating antibodies. […] MuSK assays are used when anti-ACh receptor antibody titers are negative but the clinician has a strong clinical suspicion for MG. […] The differential diagnosis for MG is vast. Due to its variability in presenting symptoms, MG can mimic many diseases. […] The prognosis for MG, whether ocular or systemic, is generally fair as long as symptoms are well controlled and there is no disease progression to involve larger muscle groups such as respiratory muscles and muscles involved with the action of swallowing.
  • #31 Myasthenia Gravis Workup: Laboratory Tests, Radiography, CT, and MRI, Electrodiagnostic Studies
    https://emedicine.medscape.com/article/1171206-workup
    It is essential to rule out mass lesions compressing the cranial nerves in strictly ocular MG. […] Routine motor and sensory nerve conduction studies (NCS) in myasthenia gravis (MG) must not be omitted before embarking on electrodiagnostic studies that demonstrate a defect of neuromuscular transmission. […] SFEMG provides the most sensitive measure of myasthenia gravis. A normal SFEMG of a clinically weak muscle effectively rules out the diagnosis of MG. […] In patients with myasthenia gravis (MG), the number of AChRs at the NMJ is low, which results in a decreased number of interactions between ACh and its receptor. […] The ice pack test (ie, placing ice over the lid) has gained interest among ophthalmologists for assessing improvement in ptosis and diplopia in ocular myasthenia gravis (MG). […] Routine histopathology is not part of the evaluation of myasthenia gravis (MG).
  • #32 Diagnosis – Myasthenia Gravis (MG) – Diseases | Muscular Dystrophy Association
    https://www.mda.org/disease/myasthenia-gravis/diagnosis
    If a physical exam is consistent with MG, a neurologist usually orders a blood test designed to detect antibodies to the acetylcholine (Ach) receptor. […] A blood test for muscle-specific tyrosine kinase (MuSK) antibodies is also available. […] In approximately 90% of patients with MG, a positive test result confirms a diagnosis of MG. […] However, in 6% to 12% of patients with myasthenia may test negative for both AchR antibodies and MuSK antibodies. […] The next step is usually electrodiagnostic testing, in which electrodes are used to measure the electrical signals in muscle. […] In MG, a muscles response to repeated nerve stimulation declines rapidly. […] Repetitive nerve stimulation (RNS) is commonly used, with 75% to 80% accuracy and is described above. […] Single-fiber electromyography (SFEMG) is a more sensitive test (with 95% accuracy) but is less widely available and technically demanding. […] If a diagnosis of MG is confirmed, a CT scan, chest X-rays, or magnetic resonance imaging (MRI) will be used to examine the thymus and look for evidence of a thymic tumor, which occurs in about 15% of people with MG.
  • #33 Myasthenia Gravis Workup: Laboratory Tests, Radiography, CT, and MRI, Electrodiagnostic Studies
    https://emedicine.medscape.com/article/1171206-workup
    Anti-MuSK-positive individuals tend to have more pronounced bulbar weakness and may have tongue and facial atrophy. They may have neck, shoulder and respiratory involvement without ocular weakness. […] Lipoprotein-related protein 4 is present on the postsynaptic membrane and is a coreceptor for agrin and is essential for for agrin-induced activation of MuSK in concert with Dok-7. […] About 8090% of MG patients have detectable serum antibodies against AChRs with 4070% of the remaining patients being positive for anti-MuSK antibodies and 250% for anti-LRP4 antibodies. […] Testing for rheumatoid factor and antinuclear antibodies (ANAs) is indicated to rule out systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). […] Imaging of the chest in myasthenia gravis (MG) is used to rule out tumors.
  • #34
    https://www.nhs.uk/conditions/myasthenia-gravis/diagnosis/
    Myasthenia gravis can be difficult to diagnose and you may need several tests. […] The main test for myasthenia gravis is a blood test to look for a type of antibody (produced by the immune system) that stops signals being sent between the nerves and muscles. […] A high level of these antibodies usually means you have myasthenia gravis. […] The blood test may be repeated at a later date if the result is normal but your symptoms continue or get worse. […] Your doctor may also suggest an electrical test of your nerves and muscles. […] The electrical recordings can show whether the signals sent from the nerves to the muscles are being disrupted, which may be a sign of myasthenia gravis. […] You may also have a CT scan or MRI scan of your chest to check if your thymus gland is bigger than usual or has grown abnormally (a thymoma). […] If it’s still not clear what’s causing your symptoms, the doctor may recommend a test called an edrophonium test. […] If you have a sudden but temporary improvement in muscle strength after the injection, it’s likely you have myasthenia gravis.
  • #35 Myasthenia Gravis: What It Is, Causes, Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/17252-myasthenia-gravis-mg
    To diagnose myasthenia gravis, your healthcare provider will perform a physical exam and ask detailed questions to learn more about your symptoms and medical history. Testing confirms a diagnosis. It may include: […] Blood antibody tests: About 85% of people with myasthenia gravis have unusually high levels of acetylcholine receptor antibodies in their blood. Approximately 6% of people diagnosed have muscle-specific kinase (MuSK) antibodies. […] Imaging scans: An MRI or CT scan can check for thymus gland problems like tumors. […] Electromyography (EMG): An EMG measures the electrical activity of muscles and nerves. This test detects communication problems between nerves and muscles. […] There are five main classifications of myasthenia gravis that your healthcare provider may use during a diagnosis:
  • #36
    https://www.kkh.com.sg/patient-care/conditions-treatments/myasthenia-gravis
    Myasthenia gravis (MG) is a chronic, autoimmune disorder caused by a breakdown in the communication between nerve endings and muscles in the neuromuscular junction. […] A consult with a neurologist is needed to confirm the diagnosis. Tests include: […] Blood tests: To detect antibodies (e.g. anti-acetylcholine receptor antibodies) that are abnormally high in MG. […] Repetitive nerve stimulation (RNS): Small, safe and tolerable electric currents are delivered to nerves in quick succession to check nerve responses and function. […] Single fiber electromyography (SFEMG): A small needle electrode is inserted into the muscles to record differences in response time between muscle fibres. […] Computed tomography (CT) scan: Approximately 10-15% of patients with MG have an associated thymoma, a tumour of the thymus.
  • #37 Myasthenia Gravis Workup: Laboratory Tests, Radiography, CT, and MRI, Electrodiagnostic Studies
    https://emedicine.medscape.com/article/1171206-workup
    It is essential to rule out mass lesions compressing the cranial nerves in strictly ocular MG. […] Routine motor and sensory nerve conduction studies (NCS) in myasthenia gravis (MG) must not be omitted before embarking on electrodiagnostic studies that demonstrate a defect of neuromuscular transmission. […] SFEMG provides the most sensitive measure of myasthenia gravis. A normal SFEMG of a clinically weak muscle effectively rules out the diagnosis of MG. […] In patients with myasthenia gravis (MG), the number of AChRs at the NMJ is low, which results in a decreased number of interactions between ACh and its receptor. […] The ice pack test (ie, placing ice over the lid) has gained interest among ophthalmologists for assessing improvement in ptosis and diplopia in ocular myasthenia gravis (MG). […] Routine histopathology is not part of the evaluation of myasthenia gravis (MG).
  • #38
    https://www.advocatehealth.com/health-services/brain-spine-institute/brain-care-center/conditions-treatments/neuromuscular-disorders/myasthenia-gravis
    Myasthenia gravis diagnosis can be difficult because the symptoms overlap with other conditions such as stroke, brain tumors or other neuromuscular conditions. Your doctor will perform a physical exam and ask about your symptoms and medical history. Theyll also do a neurological exam to test your coordination, sense of touch, eye movements, and muscle strength and tone. […] They may order blood tests to check for specific kinds of antibodies. They may also order these tests: […] Electromyography (EMG): Electromyography checks for problems in communication between nerves and muscles. Its the most sensitive myasthenia gravis test. […] Repetitive nerve stimulation: Checks muscle responses by stimulating nerves repeatedly with electricity. […] Computed tomography (CT) of the chest: Checks for a thymoma or enlarged thymus. […] MRI of brain and eye orbit: Looks for growths unrelated to MG that may be causing eye symptoms.
  • #39 Myasthenia Gravis: What It Is, Causes, Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/17252-myasthenia-gravis-mg
    To diagnose myasthenia gravis, your healthcare provider will perform a physical exam and ask detailed questions to learn more about your symptoms and medical history. Testing confirms a diagnosis. It may include: […] Blood antibody tests: About 85% of people with myasthenia gravis have unusually high levels of acetylcholine receptor antibodies in their blood. Approximately 6% of people diagnosed have muscle-specific kinase (MuSK) antibodies. […] Imaging scans: An MRI or CT scan can check for thymus gland problems like tumors. […] Electromyography (EMG): An EMG measures the electrical activity of muscles and nerves. This test detects communication problems between nerves and muscles. […] There are five main classifications of myasthenia gravis that your healthcare provider may use during a diagnosis:
  • #40 Myasthenia Gravis: What It Is, Causes, Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/17252-myasthenia-gravis-mg
    Class I: Muscle weakness only affects your eyes (ocular muscle). […] Class II: Muscle weakness is mild. […] Class III: Muscle weakness is moderate. […] Class IV: Muscle weakness is severe. […] Class V: Severe muscle weakness affects how you breathe. You may need intubation or mechanical ventilation.
  • #41 Myasthenia gravis: Frequently asked questions | Cleveland Clinic Journal of Medicine
    https://www.ccjm.org/content/90/2/103
    Pyridostigmine, the most commonly used acetylcholinesterase inhibitor for symptomatic treatment of myasthenia gravis, is typically used alone in mild cases or in combination with immunosuppressants in more severe ones. […] According to consensus guidelines, corticosteroids or nonsteroidal immunosuppressive drugs should be used in all patients with myasthenia gravis who have not met their treatment goals after an adequate trial of pyridostigmine. […] Nonsteroidal immunosuppressive therapies should be considered in the following situations: Lack of significant response to prednisone, More than 1 relapse upon prednisone tapering, Inability to wean prednisone to an acceptable minimal dosage, Contraindications to prednisone such as morbid obesity, brittle diabetes mellitus, peptic ulcer disease, high risk for osteoporosis, or significant side effects from prednisone. […] The decision to remove the thymus is often influenced by whether patients have thymomatous or nonthymomatous myasthenia gravis. Thymectomy is indicated in all patients with thymic neoplasms.
  • #42 Diagnosing Myasthenia GravisShare to Facebookprint pageBookmark for latercaret iconFollow us on facebookFollow us on instagramFollow us on facebookFollow us on linkedincaret icon
    https://myasthenia-gravis.com/diagnosis
    Electromyography (EMG) is an electrical test of your muscle cells and can help assess if your muscles are functioning properly. […] Some people with MG may not have a positive RNS test or other findings on standard NCS and EMG tests. […] Once myasthenia gravis has been diagnosed, your doctor will order images of your upper chest. […] It can be hard to get a correct diagnosis when you have myasthenia gravis (MG). […] It takes the average person with MG about 3 years to get a correct diagnosis. […] Many people finally get the right diagnosis from a neurologist, especially one who specializes in neuromuscular issues.
  • #43 Myasthenia Gravis Diagnosis Timeline | Myasthenia Gravis News Forums
    https://myastheniagravisnews.com/forums/forums/topic/myasthenia-gravis-diagnosis-timeline/
    Took 8 visits to doctors over 3 months before I got the confirmed diagnosis of MG. Symptoms from the start were double vision and trouble focusing. […] My timeline was months long and as I reflect on it, I probably had the beginnings of MG years before and just did not recognize the symptoms. […] My gp doctor immediately recommended a neurologist because my eye dropped. […] I was seeing a rheumatologist for years, who told me it was fibromyalgia & arthritis. […] I was diagnosed with MG after 7+ years of symptoms. It was initially thought that I had classic signs of MG, but my antibodies were negative so that diagnosis wasn’t investigated again for a number of years. […] Symptoms, initially eye droop, and overall fatigue. […] In April 2017 I had difficulty breathing at work, went to the ER and checked out ok.
  • #44 Azthena logo with the word Azthena
    https://www.news-medical.net/health/Myasthenia-Gravis-Diagnosis.aspx
    Unfortunately, a delay in diagnosis of one or two years is not unusual in cases of MG. […] The first steps of diagnosing MG include a review of the person’s medical history and physical and neurological exams. […] If the doctor suspects MG, several tests are available to confirm the diagnosis. […] Antibody blood test. A special blood test can detect the antibodies that prevent nerves from signaling to muscles. […] Edrophonium test. When this drug is injected, the weak eye muscles of people with MG will briefly get stronger. […] Nerve conduction test/repetitive stimulation. This is a test of specific muscle fatigue by repetitive nerve stimulation. […] Single fiber electromyography (EMG). In this test, pairs of single muscle fibers are stimulated by electrical impulses. It can detect impaired nerve-to-muscle transmission. […] Computed tomography (CT) or magnetic resonance imaging (MRI). These tests can help identify an abnormal thymus gland or a thymus gland tumor.
  • #45 Diagnosing Myasthenia GravisShare to Facebookprint pageBookmark for latercaret iconFollow us on facebookFollow us on instagramFollow us on facebookFollow us on linkedincaret icon
    https://myasthenia-gravis.com/diagnosis
    Electromyography (EMG) is an electrical test of your muscle cells and can help assess if your muscles are functioning properly. […] Some people with MG may not have a positive RNS test or other findings on standard NCS and EMG tests. […] Once myasthenia gravis has been diagnosed, your doctor will order images of your upper chest. […] It can be hard to get a correct diagnosis when you have myasthenia gravis (MG). […] It takes the average person with MG about 3 years to get a correct diagnosis. […] Many people finally get the right diagnosis from a neurologist, especially one who specializes in neuromuscular issues.
  • #46 Diagnosis – Myasthenia Gravis (MG) – Diseases | Muscular Dystrophy Association
    https://www.mda.org/disease/myasthenia-gravis/diagnosis
    If a physical exam is consistent with MG, a neurologist usually orders a blood test designed to detect antibodies to the acetylcholine (Ach) receptor. […] A blood test for muscle-specific tyrosine kinase (MuSK) antibodies is also available. […] In approximately 90% of patients with MG, a positive test result confirms a diagnosis of MG. […] However, in 6% to 12% of patients with myasthenia may test negative for both AchR antibodies and MuSK antibodies. […] The next step is usually electrodiagnostic testing, in which electrodes are used to measure the electrical signals in muscle. […] In MG, a muscles response to repeated nerve stimulation declines rapidly. […] Repetitive nerve stimulation (RNS) is commonly used, with 75% to 80% accuracy and is described above. […] Single-fiber electromyography (SFEMG) is a more sensitive test (with 95% accuracy) but is less widely available and technically demanding. […] If a diagnosis of MG is confirmed, a CT scan, chest X-rays, or magnetic resonance imaging (MRI) will be used to examine the thymus and look for evidence of a thymic tumor, which occurs in about 15% of people with MG.
  • #47 Diagnosis and Management of Seronegative Myasthenia Gravis: Lights and Shadows
    https://www.mdpi.com/2076-3425/13/9/1286
    Myasthenia gravis (MG) is an antibody-mediated neuromuscular disease affecting the neuromuscular junction. In most cases, autoantibodies can be detected in the sera of MG patients, thus aiding in diagnosis and allowing for early screening. However, there is a small proportion of patients who have no detectable auto-antibodies, a condition termed “seronegative MG” (SnMG). The diagnosis of SnMG is more challenging and is based on clinical features and neurophysiological tests. The early identification of these patients is needed in order to ensure early treatment and prevent complications. This narrative review aims to examine the latest updates on SnMG, defining the clinical characteristics of affected patients, diagnostic methods, management, and therapeutic scenarios. […] Currently, radioimmunoassay (RIA) is the standard method for detecting MG antibodies. However, in recent years, improved and highly sensitive cellular assays (CBA) or radioimmunoprecipitation assays (RIPA) have made it possible to detect anti-AChR and anti-MuSK antibodies in patients previously diagnosed with SnMG.
  • #48 Myasthenia Gravis: Making Progress for More Accurate Diagnoses and Targeted Treatments
    https://practicalneurology.com/diseases-diagnoses/neuromuscular/myasthenia-gravis-making-progress-for-more-accurate-diagnoses-and-targeted-treatments/32114/
    Advances in testing and treatments for myasthenia gravis are leading to more accurate diagnoses and improvements in symptom control for individuals with this rare chronic autoimmune disease. […] A history of fatigable weakness of predominantly ocular, bulbar, axial, or proximal appendicular muscles is strongly suggestive of a diagnosis of MG. […] The mainstay of diagnosis in MG is detection of pathogenic antibodies in serum. […] Therefore, cell-based assays can often detect the presence of antibodies in individuals who would otherwise be classified as seronegative. […] Once a diagnosis of MG has been made, it is imperative in cases of AChR antibody-mediated disease to assess the status of the thymus with CT or MRI of the chest to evaluate for thymoma. […] In these cases, thymectomy can lead to better control of symptoms and reduction in the doses of other therapies, such as corticosteroids. […] More targeted therapies offer individuals the efficacy and safety required for optimal disease control with fewer side effects.
  • #49 Diagnosing MG | Myasthenia Gravis Foundation of America
    http://myasthenia.org/understanding-mg/diagnosing-mg/
    Cell-based assay testing a more sensitive type of blood test which may be able to detect AChR antibodies in patients who were previously thought to be seronegative. In a 2022 study published in the Journal of Neuroimmunology, 18.2% of seronegative patients tested positive for AChR antibodies using cell-based assay testing. […] Ice Pack tests Ice Pack tests are examinations performed by specialists to evaluate strength and recovery responses that could be consistent with an MG diagnosis. […] CT scan A scan of the chest is commonly performed for those with confirmed MG or MG symptoms to look for thymoma, a tumor of the thymus gland that can cause MG. […] Electromyography (EMG) Repetitive nerve stimulations (RNS) applying electrical shocks are often used to gauge muscle response and action potential and whether results are consistent with an MG diagnosis.
  • #50 Decoding myasthenia gravis: advanced diagnosis with infrared spectroscopy and machine learning | Scientific Reports
    https://www.nature.com/articles/s41598-024-66501-3
    Myasthenia Gravis (MG) is a rare neurological disease. Although there are intensive efforts, the underlying mechanism of MG still has not been fully elucidated, and early diagnosis is still a question mark. Diagnostic paraclinical tests are also time-consuming, burden patients financially, and sometimes all test results can be negative. Therefore, rapid, cost-effective novel methods are essential for the early accurate diagnosis of MG. Here, we aimed to determine MG-induced spectral biomarkers from blood serum using infrared spectroscopy. Furthermore, infrared spectroscopy coupled with multivariate analysis methods e.g., principal component analysis (PCA), support vector machine (SVM), discriminant analysis and Neural Network Classifier were used for rapid MG diagnosis. […] All these spectral parameters can be used as biomarkers for MG diagnosis and also in MG therapy. Furthermore, MG was diagnosed with 100% accuracy, sensitivity and specificity values by infrared spectroscopy coupled with multivariate analysis methods. In conclusion, FTIR spectroscopy coupled with machine learning technology is advancing towards clinical translation as a rapid, low-cost, sensitive novel approach for MG diagnosis.
  • #51 Overview of biomarkers in myasthenia gravis
    https://www.explorationpub.com/Journals/ent/Article/100429
    Myasthenia gravis (MG) is a rare auto-immune neuromuscular junction (NMJ) disorder which is caused by formation of autoantibodies and destruction of NMJ components. The MG diagnosis is based on the symptoms, autoantibodies detection and paraclinical tests. […] According to the studies, there are the immunologic, genetic, microRNAs, gut microbiome, and other established or newly proposed biomarkers for diagnosis and prognosis of MG. […] Although serum autoantibody detection is the most specific diagnostic tool for MG diagnosis, electromyography, RNS, and clinical response to cholinesterase inhibitors are useful in patients who are suspected to have other NMJ disorders. […] The main MG clinical manifestations are fluctuations of muscle weakness in ocular muscles (which is presented by double vision and ptosis), bulbar muscles involvement (in patients who have dysarthria, dysphagia, and facial or jaw muscle weakness), axial muscles weakness (which causes neck flexion impairment and head) and respiratory muscles involvement.
  • #52 Decoding myasthenia gravis: advanced diagnosis with infrared spectroscopy and machine learning | Scientific Reports
    https://www.nature.com/articles/s41598-024-66501-3
    In spite of intensive efforts, the underlying mechanism of MG has still not been fully elucidated due to low accuracy, possible false positive results, low sensitivity and specificity, and problems with the availability and reliability of the existing methods. The consensus in the MG literature is that there is a need for better more dependable diagnostic techniques. […] Therefore, novel approaches that are rapid, sensitive, reliable, and relatively low-cost are essential for the characterization and diagnosis of MG disease. […] This research aims to assess the feasibility of infrared spectroscopy, specifically ATR-FTIR spectroscopy combined with chemometrics, for rapid, sensitive, and cost-effective diagnosis of MG using human blood serum samples. Notably, this study aims to achieve accurate and swift MG diagnosis without relying on antibody information. Furthermore, this research represents the first investigation into the structural biomolecular foundation of MG and the determination of spectral biomarkers for the diagnosis of this disease.
  • #53 Overview of biomarkers in myasthenia gravis
    https://www.explorationpub.com/Journals/ent/Article/100429
    Myasthenia gravis (MG) is a rare auto-immune neuromuscular junction (NMJ) disorder which is caused by formation of autoantibodies and destruction of NMJ components. The MG diagnosis is based on the symptoms, autoantibodies detection and paraclinical tests. […] According to the studies, there are the immunologic, genetic, microRNAs, gut microbiome, and other established or newly proposed biomarkers for diagnosis and prognosis of MG. […] Although serum autoantibody detection is the most specific diagnostic tool for MG diagnosis, electromyography, RNS, and clinical response to cholinesterase inhibitors are useful in patients who are suspected to have other NMJ disorders. […] The main MG clinical manifestations are fluctuations of muscle weakness in ocular muscles (which is presented by double vision and ptosis), bulbar muscles involvement (in patients who have dysarthria, dysphagia, and facial or jaw muscle weakness), axial muscles weakness (which causes neck flexion impairment and head) and respiratory muscles involvement.
  • #54 Decoding myasthenia gravis: advanced diagnosis with infrared spectroscopy and machine learning | Scientific Reports
    https://www.nature.com/articles/s41598-024-66501-3
    All the significant spectral changes presented in Figure 2 can be used as biomarkers for MG diagnosis. […] The best separation of the MG and control clusters is obtained for the protein and fingerprint regions. Therefore, the best classifier performances can be obtained in these intervals. […] The classifier models were obtained using the PCA score vectors obtained from the second derivative of the vector-normalized spectra as described in the methods section. The protein region yielded the highest classification performance, with all three types of classifiers achieving perfect scores of 100% accuracy, sensitivity, and specificity.
  • #55 Diagnosis – how is Myasthenia Gravis confirmed? – Myasthenia Gravis
    https://www.myasthenia.au/background/diagnosis/
    The symptoms of Myasthenia Gravis (MG) are common complaints that can be found in a variety of medical and even psychological conditions. […] Generally an individual with potential symptoms of MG would be referred to a neurologist for diagnosis, but sometimes an ophthalmologist or an immunologist will also make the diagnosis. […] This may include a careful family history, past medical history and medication history; as the disorders that can mimic MG can occur for many different reasons. […] It is not often realised that there is no single test that absolutely proves the diagnosis of MG. However, the combination of history, clinical examination, nerve tests and blood tests often establishes the diagnosis beyond reasonable doubt. […] If the doctor suspects MG, further tests are usually carried out.
  • #56 Myasthenia Gravis | Children’s Hospital of Philadelphia
    https://www.chop.edu/conditions-diseases/myasthenia-gravis
    We believe that removing the thymus reduces the amount of medical treatment required, and increases the probability for complete remission. […] Importantly, this operation does not instantly cure myasthenia gravis. Symptoms may begin to improve in weeks, months or years. […] Our focus is on producing the best possible outcomes for your child. This includes ongoing research to improve care for patients with JMG. […] The study reinforces the safety of thymectomy as a treatment option for juvenile myasthenia gravis, highlights the importance of interdisciplinary collaboration between medical and surgical providers involved in myasthenia care, and broadens the evidence of improved outcomes and reduced medications after surgery.
  • #57 Myasthenia Gravis Diagnosis | Stanford Health Care
    https://stanfordhealthcare.org/medical-conditions/brain-and-nerves/myasthenia-gravis/diagnosis.html
    Imaging studies: Testing may include CT scan or magnetic resonance imaging (MRI) of the chest looking for tumors that are sometimes seen in patients with myasthenia gravis. […] In the Neuromuscular Program, our doctors design and supervise all of functional testing. This helps us achieve reliable, accurate results.
  • #58 Diagnosis – how is Myasthenia Gravis confirmed? – Myasthenia Gravis
    https://www.myasthenia.au/background/diagnosis/
    The simple way to look at the ACHR antibody test is that an elevated concentration of AChR antibodies confirms a clinical diagnosis of MG, but a normal or negative result does not exclude the diagnosis. […] There is no one definitive test for MG. […] Sometimes all of these confirmatory tests are negative in someone whose clinical examination seems to point to MG. In these cases, the doctor would diagnose possible MG or probable MG.
  • #59 Myasthenia gravis | healthdirect
    https://www.healthdirect.gov.au/myasthenia-gravis
    Myasthenia gravis is an autoimmune disease, caused by a breakdown in communication between your nerves and muscles. […] Blood tests, imaging scans and nerve conduction tests can help diagnose myasthenia gravis. […] Your doctor can diagnose myasthenia gravis by examining you, asking you about your symptoms and referring you to do some of the following tests: […] Blood test to check if you have antibodies that are common in people with myasthenia gravis (known as AChR antibodies). […] The process of a myasthenia gravis diagnosis can be long and frustrating. Many symptoms are be very general and similar to those of other illnesses. There is no single test that diagnoses myasthenia gravis, you may need to do many tests.
  • #60 Azthena logo with the word Azthena
    https://www.news-medical.net/whitepaper/20240506/Leading-the-way-in-Myasthenia-Gravis-(MG)-detection.aspx
    Early and accurate diagnosis holds immense importance as it allows for timely treatment to manage symptoms and enhance patients’ quality of life, even in the absence of a cure. […] Modern disease biomarkers and targeted assays are now available to enhance the speed and reliability of diagnosis. […] In most MG cases, autoantibodies specifically target acetylcholine receptors, transmembrane proteins responsible for transmitting electrical signals between nerve endings and muscles to facilitate muscle contractions. […] However, approximately 15% of patients exhibiting clinical symptoms do not show detectable ARAbs, resulting in a seronegative classification. […] About 70% of seronegative MG cases can be diagnosed by detecting autoantibodies to muscle-specific receptor tyrosine kinase (MuSK), a protein involved in linking the acetylcholine receptor to the cytoskeleton.
  • #61 Myasthenia Gravis: Making Progress for More Accurate Diagnoses and Targeted Treatments
    https://practicalneurology.com/diseases-diagnoses/neuromuscular/myasthenia-gravis-making-progress-for-more-accurate-diagnoses-and-targeted-treatments/32114/
    Advances in testing and treatments for myasthenia gravis are leading to more accurate diagnoses and improvements in symptom control for individuals with this rare chronic autoimmune disease. […] A history of fatigable weakness of predominantly ocular, bulbar, axial, or proximal appendicular muscles is strongly suggestive of a diagnosis of MG. […] The mainstay of diagnosis in MG is detection of pathogenic antibodies in serum. […] Therefore, cell-based assays can often detect the presence of antibodies in individuals who would otherwise be classified as seronegative. […] Once a diagnosis of MG has been made, it is imperative in cases of AChR antibody-mediated disease to assess the status of the thymus with CT or MRI of the chest to evaluate for thymoma. […] In these cases, thymectomy can lead to better control of symptoms and reduction in the doses of other therapies, such as corticosteroids. […] More targeted therapies offer individuals the efficacy and safety required for optimal disease control with fewer side effects.