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Myasthenia gravis(MG)

MedGen UID:
7764
Concept ID:
C0026896
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:
109109
Concept ID:
C0600599
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0009688
OMIM®: 254200
Orphanet: ORPHA589

Definition

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
Thymoma
MedGen UID:
52743
Concept ID:
C0040100
Neoplastic Process
A tumor originating from the epithelial cells of the thymus.
Limb muscle weakness
MedGen UID:
107956
Concept ID:
C0587246
Finding
Reduced strength and weakness of the muscles of the arms and legs.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
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:
451076
Concept ID:
C0947912
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:
113169
Concept ID:
C0221629
Finding
A lack of strength of the proximal muscles.
Facial palsy
MedGen UID:
87660
Concept ID:
C0376175
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.
Autoimmunity
MedGen UID:
2136
Concept ID:
C0004368
Pathologic Function
The occurrence of an immune reaction against the organism's own cells or tissues.
Abnormality of the immune system
MedGen UID:
867388
Concept ID:
C4021753
Pathologic Function
An abnormality of the immune system.
Hypernasal speech
MedGen UID:
107884
Concept ID:
C0566620
Finding
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:
66779
Concept ID:
C0239043
Finding
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:
893021
Concept ID:
C4025823
Anatomical Abnormality
An abnormality of the endocrine system.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
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).
Diplopia
MedGen UID:
41600
Concept ID:
C0012569
Disease or Syndrome
Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyasthenia gravis
Follow this link to review classifications for Myasthenia gravis in Orphanet.

Professional guidelines

PubMed

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
Neurology 2021 Jan 19;96(3):114-122. Epub 2020 Nov 3 doi: 10.1212/WNL.0000000000011124. PMID: 33144515Free PMC Article
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

Curated

Orphanet, Autoimmune myasthenia, 2013

Recent clinical studies

Etiology

Claytor B, Cho SM, Li Y
Muscle Nerve 2023 Jul;68(1):8-19. Epub 2023 Apr 28 doi: 10.1002/mus.27832. PMID: 37114503
Bubuioc AM, Kudebayeva A, Turuspekova S, Lisnic V, Leone MA
J Med Life 2021 Jan-Mar;14(1):7-16. doi: 10.25122/jml-2020-0145. PMID: 33767779Free PMC Article
Tannemaat MR, Verschuuren JJGM
Neuromuscul Disord 2020 Feb;30(2):111-119. Epub 2019 Dec 14 doi: 10.1016/j.nmd.2019.12.003. PMID: 32007304
Melzer N, Ruck T, Fuhr P, Gold R, Hohlfeld R, Marx A, Melms A, Tackenberg B, Schalke B, Schneider-Gold C, Zimprich F, Meuth SG, Wiendl H
J Neurol 2016 Aug;263(8):1473-94. Epub 2016 Feb 17 doi: 10.1007/s00415-016-8045-z. PMID: 26886206Free PMC Article
Grob D, Brunner N, Namba T, Pagala M
Muscle Nerve 2008 Feb;37(2):141-9. doi: 10.1002/mus.20950. PMID: 18059039

Diagnosis

Morren JA, Li Y
Cleve Clin J Med 2023 Feb 1;90(2):103-113. doi: 10.3949/ccjm.90a.22017. PMID: 36724914
Shuey NH
Clin Exp Optom 2022 Mar;105(2):205-213. Epub 2022 Feb 14 doi: 10.1080/08164622.2022.2029683. PMID: 35157811
Hehir MK, Silvestri NJ
Neurol Clin 2018 May;36(2):253-260. doi: 10.1016/j.ncl.2018.01.002. PMID: 29655448
Peragallo JH
Semin Pediatr Neurol 2017 May;24(2):116-121. Epub 2017 Apr 7 doi: 10.1016/j.spen.2017.04.003. PMID: 28941526
Sieb JP
Clin Exp Immunol 2014 Mar;175(3):408-18. doi: 10.1111/cei.12217. PMID: 24117026Free PMC Article

Therapy

Granit V, Benatar M, Kurtoglu M, Miljković MD, Chahin N, Sahagian G, Feinberg MH, Slansky A, Vu T, Jewell CM, Singer MS, Kalayoglu MV, Howard JF Jr, Mozaffar T; MG-001 Study Team
Lancet Neurol 2023 Jul;22(7):578-590. doi: 10.1016/S1474-4422(23)00194-1. PMID: 37353278Free PMC Article
Bril V, Drużdż A, Grosskreutz J, Habib AA, Mantegazza R, Sacconi S, Utsugisawa K, Vissing J, Vu T, Boehnlein M, Bozorg A, Gayfieva M, Greve B, Woltering F, Kaminski HJ; MG0003 study team
Lancet Neurol 2023 May;22(5):383-394. doi: 10.1016/S1474-4422(23)00077-7. PMID: 37059507
Hehir MK 2nd, Li Y
Continuum (Minneap Minn) 2022 Dec 1;28(6):1615-1642. doi: 10.1212/CON.0000000000001161. PMID: 36537972
Howard JF Jr, Bril V, Vu T, Karam C, Peric S, Margania T, Murai H, Bilinska M, Shakarishvili R, Smilowski M, Guglietta A, Ulrichts P, Vangeneugden T, Utsugisawa K, Verschuuren J, Mantegazza R; ADAPT Investigator Study Group
Lancet Neurol 2021 Jul;20(7):526-536. doi: 10.1016/S1474-4422(21)00159-9. PMID: 34146511
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

Prognosis

Cortés-Vicente E, Álvarez-Velasco R, Pla-Junca F, Rojas-Garcia R, Paradas C, Sevilla T, Casasnovas C, Gómez-Caravaca MT, Pardo J, Ramos-Fransi A, Pelayo-Negro AL, Gutiérrez-Gutiérrez G, Turon-Sans J, López de Munain A, Guerrero-Sola A, Jericó I, Martín MA, Mendoza MD, Morís G, Vélez-Gómez B, Garcia-Sobrino T, Pascual-Goñi E, Reyes-Leiva D, Illa I, Gallardo E
Ann Clin Transl Neurol 2022 Feb;9(2):122-131. Epub 2022 Jan 26 doi: 10.1002/acn3.51492. PMID: 35080153Free PMC Article
Bubuioc AM, Kudebayeva A, Turuspekova S, Lisnic V, Leone MA
J Med Life 2021 Jan-Mar;14(1):7-16. doi: 10.25122/jml-2020-0145. PMID: 33767779Free PMC Article
Spillane J, Higham E, Kullmann DM
BMJ 2012 Dec 21;345:e8497. doi: 10.1136/bmj.e8497. PMID: 23261848
Cooper GS, Stroehla BC
Autoimmun Rev 2003 May;2(3):119-25. doi: 10.1016/s1568-9972(03)00006-5. PMID: 12848952
Phillips OC, Capizzi LS
Clin Anesth 1974;10(3):220-44. PMID: 4613516

Clinical prediction guides

Granit V, Benatar M, Kurtoglu M, Miljković MD, Chahin N, Sahagian G, Feinberg MH, Slansky A, Vu T, Jewell CM, Singer MS, Kalayoglu MV, Howard JF Jr, Mozaffar T; MG-001 Study Team
Lancet Neurol 2023 Jul;22(7):578-590. doi: 10.1016/S1474-4422(23)00194-1. PMID: 37353278Free PMC Article
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
Meisel A, Annane D, Vu T, Mantegazza R, Katsuno M, Aguzzi R, Frick G, Gault L, Howard JF Jr; CHAMPION MG Study Group
J Neurol 2023 Aug;270(8):3862-3875. Epub 2023 Apr 27 doi: 10.1007/s00415-023-11699-x. PMID: 37103755Free PMC Article
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
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

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
J Immunother Cancer 2019 Nov 21;7(1):319. doi: 10.1186/s40425-019-0774-y. PMID: 31753014Free PMC Article
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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