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Myasthenia gravis(MG)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Congenital MG; Erb-Goldflam syndrome; MG; Myasthenia gravis congenital; Myasthenia gravis pseudoparalytica
SNOMED CT: MG - Myasthenia gravis (91637004); Myasthenia gravis (91637004); Erb-Goldflam disease (91637004)
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
Concept ID:
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Not genetically inherited
MedGen UID:
Concept ID:
Source: Orphanet
clinical entity without genetic inheritance.
Monarch Initiative: MONDO:0009688
OMIM®: 254200
Orphanet: ORPHA589


Myasthenia gravis is an autoimmune disease in which antibodies bind to acetylcholine receptors or to functionally related molecules in the postsynaptic membrane at the neuromuscular junction. The antibodies induce weakness of skeletal muscles, which is the sole disease manifestation. The weakness can be generalized or localized, is more proximal than distal, and nearly always includes eye muscles, with diplopia and ptosis. The pattern of involvement is usually symmetric, apart from the eye involvement, which is often markedly asymmetric and involves several eye muscles. The weakness typically increases with exercise and repetitive muscle use (fatigue) and varies over the course of a day and from day to day, often with nearly normal muscle strength in the morning (summary by Gilhus, 2016). [from OMIM]

Additional description

From MedlinePlus Genetics
Myasthenia gravis is a disorder that causes weakness of the skeletal muscles, which are muscles that the body uses for movement. The weakness most often starts in the muscles around the eyes, causing drooping of the eyelids (ptosis) and difficulty coordinating eye movements, which results in blurred or double vision. In a form of the disorder called ocular myasthenia, the weakness remains confined to the eye muscles. In most people with myasthenia gravis, however, additional muscles in the face and neck are affected. Affected individuals may have unusual facial expressions, difficulty holding up the head, speech impairment (dysarthria), and chewing and swallowing problems (dysphagia) that may lead to choking, gagging, or drooling.

Other muscles in the body are also affected in some people with myasthenia gravis. The muscles of the arms and legs may be involved, causing affected individuals to have changes in their gait or trouble with lifting objects, rising from a seated position, or climbing stairs. The muscle weakness tends to fluctuate over time; it typically worsens with activity and improves with rest.

Weakness of the muscles in the chest wall and the muscle that separates the abdomen from the chest cavity (the diaphragm) can cause breathing problems in some people with myasthenia gravis. About 10 percent of people with this disorder experience a potentially life-threatening complication in which these respiratory muscles weaken to the point that breathing is dangerously impaired, and the affected individual requires ventilation assistance. This respiratory failure, called a myasthenic crisis, may be triggered by stresses such as infections or reactions to medications.

People can develop myasthenia gravis at any age. For reasons that are unknown, it is most commonly diagnosed in women younger than age 40 and men older than age 60. It is uncommon in children, but some infants born to women with myasthenia gravis show signs and symptoms of the disorder for the first few days or weeks of life. This temporary occurrence of symptoms is called transient neonatal myasthenia gravis.  https://medlineplus.gov/genetics/condition/myasthenia-gravis

Clinical features

From HPO
MedGen UID:
Concept ID:
Neoplastic Process
A tumor originating from the epithelial cells of the thymus.
Limb muscle weakness
MedGen UID:
Concept ID:
Reduced strength and weakness of the muscles of the arms and legs.
MedGen UID:
Concept ID:
Disease or Syndrome
Difficulty in swallowing.
MedGen UID:
Concept ID:
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Fatigable weakness
MedGen UID:
Concept ID:
Disease or Syndrome
A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
Proximal muscle weakness
MedGen UID:
Concept ID:
A lack of strength of the proximal muscles.
Facial palsy
MedGen UID:
Concept ID:
Disease or Syndrome
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
MedGen UID:
Concept ID:
Pathologic Function
The occurrence of an immune reaction against the organism's own cells or tissues.
Abnormality of the immune system
MedGen UID:
Concept ID:
Pathologic Function
An abnormality of the immune system.
Hypernasal speech
MedGen UID:
Concept ID:
A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.
Impaired mastication
MedGen UID:
Concept ID:
An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing.
Abnormality of the endocrine system
MedGen UID:
Concept ID:
Anatomical Abnormality
An abnormality of the endocrine system.
MedGen UID:
Concept ID:
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
MedGen UID:
Concept ID:
Disease or Syndrome
Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.

Professional guidelines


Narayanaswami P, Sanders DB, Wolfe G, Benatar M, Cea G, Evoli A, Gilhus NE, Illa I, Kuntz NL, Massey J, Melms A, Murai H, Nicolle M, Palace J, Richman D, Verschuuren J
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Farmakidis C, Pasnoor M, Dimachkie MM, Barohn RJ
Neurol Clin 2018 May;36(2):311-337. doi: 10.1016/j.ncl.2018.01.011. PMID: 29655452Free PMC Article
Sanders DB, Wolfe GI, Benatar M, Evoli A, Gilhus NE, Illa I, Kuntz N, Massey JM, Melms A, Murai H, Nicolle M, Palace J, Richman DP, Verschuuren J, Narayanaswami P
Neurology 2016 Jul 26;87(4):419-25. Epub 2016 Jun 29 doi: 10.1212/WNL.0000000000002790. PMID: 27358333Free PMC Article


Orphanet, Autoimmune myasthenia, 2013

Recent clinical studies


Dos Santos JBR, Gomes RM, da Silva MRR
Expert Rev Clin Immunol 2022 Sep;18(9):879-888. Epub 2022 Aug 5 doi: 10.1080/1744666X.2022.2106972. PMID: 35892247
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Farmakidis C, Pasnoor M, Dimachkie MM, Barohn RJ
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Clinical prediction guides

Howard JF Jr, Bresch S, Genge A, Hewamadduma C, Hinton J, Hussain Y, Juntas-Morales R, Kaminski HJ, Maniaol A, Mantegazza R, Masuda M, Sivakumar K, Śmiłowski M, Utsugisawa K, Vu T, Weiss MD, Zajda M, Boroojerdi B, Brock M, de la Borderie G, Duda PW, Lowcock R, Vanderkelen M, Leite MI; RAISE Study Team
Lancet Neurol 2023 May;22(5):395-406. doi: 10.1016/S1474-4422(23)00080-7. PMID: 37059508
Punga AR, Maddison P, Heckmann JM, Guptill JT, Evoli A
Lancet Neurol 2022 Feb;21(2):176-188. doi: 10.1016/S1474-4422(21)00297-0. PMID: 35065040
Bril V, Benatar M, Andersen H, Vissing J, Brock M, Greve B, Kiessling P, Woltering F, Griffin L, Van den Bergh P; MG0002 Investigators
Neurology 2021 Feb 9;96(6):e853-e865. Epub 2020 Nov 20 doi: 10.1212/WNL.0000000000011108. PMID: 33219142Free PMC Article
Tandan R, Hehir MK 2nd, Waheed W, Howard DB
Muscle Nerve 2017 Aug;56(2):185-196. Epub 2017 Mar 21 doi: 10.1002/mus.25597. PMID: 28164324
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N Engl J Med 2016 Aug 11;375(6):511-22. doi: 10.1056/NEJMoa1602489. PMID: 27509100Free PMC Article

Recent systematic reviews

Saccà F, Pane C, Espinosa PE, Sormani MP, Signori A
Eur J Neurol 2023 Dec;30(12):3854-3867. Epub 2023 May 30 doi: 10.1111/ene.15872. PMID: 37204031
Salari N, Fatahi B, Bartina Y, Kazeminia M, Fatahian R, Mohammadi P, Shohaimi S, Mohammadi M
J Transl Med 2021 Dec 20;19(1):516. doi: 10.1186/s12967-021-03185-7. PMID: 34930325Free PMC Article
Safa H, Johnson DH, Trinh VA, Rodgers TE, Lin H, Suarez-Almazor ME, Fa'ak F, Saberian C, Yee C, Davies MA, Tummala S, Woodman K, Abdel-Wahab N, Diab A
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Kaegi C, Wuest B, Schreiner J, Steiner UC, Vultaggio A, Matucci A, Crowley C, Boyman O
Front Immunol 2019;10:1990. Epub 2019 Sep 6 doi: 10.3389/fimmu.2019.01990. PMID: 31555262Free PMC Article
Tandan R, Hehir MK 2nd, Waheed W, Howard DB
Muscle Nerve 2017 Aug;56(2):185-196. Epub 2017 Mar 21 doi: 10.1002/mus.25597. PMID: 28164324

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