| H01594 | |
| H number | H01594 |
| Name | Myasthenia gravis |
| Description | Myasthenia gravis (MG) is an autoimmune disorder characterized by a defective transmission of nerve impulses to muscles leading to muscle weakness and fatigability. Some, but not all, muscles are affected and not necessarily symmetrically. Increased weakness with continued muscle activity represents a diagnostic clue for MG, but these clinical features can vary. MG is B-cell mediated, and is associated with antibodies directed against the acetylcholine receptor (AChR), muscle-specific kinase (MUSK), lipoprotein-related protein 4 (LRP4), or agrin in the postsynaptic membrane at the neuromuscular junction. Patients should be classified into subgroups to help with therapeutic decisions and prognosis. Subgroups based on serum antibodies and clinical features include early-onset, late-onset, thymoma, MUSK, LRP4, antibody-negative, and ocular forms of myasthenia gravis. Agrin-associated MG might emerge as a new entity. The prognosis is good with optimum symptomatic, immunosuppressive, and supportive treatment. The evolution of MG is unpredictable, but it is generally characterized by the occurrence of relapses, sometimes subsequent to remissions and a worsening trend. For 85% of MG patients, the maximum severity is reached within less than 3 years. |
| Category | Immune system disease; Nervous system disease |
| Network | - |
| Gene | - |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Eculizumab [DR:D03940] (AchR antibody positive) Efgartigimod alfa [DR:D11876] (AChR antibody positive) Pyridostigmine bromide [DR:D00487] Edrophonium chloride [DR:D00994] (emergency treatment) Rozanolixizumab [DR:D12182] (anti-acetylcholine receptor or anti-muscle specific tyrosine kinase antibody positive) |
| Comment | Autoantigen: CHRNA1 [HSA:1134] [KO:K04803] MUSK [HSA:4593] [KO:K05129] LRP4 [HSA:4038] [KO:K20051] |
| Other DBs | ICD-11: 8C60 ICD-10: G70.0 MeSH: D009157 |
| Reference | PMID:24530233 AUTHORS Berrih-Aknin S, Frenkian-Cuvelier M, Eymard B TITLE Diagnostic and clinical classification of autoimmune myasthenia gravis. JOURNAL J Autoimmun 48-49:143-8 (2014) DOI:10.1016/j.jaut.2014.01.003 PMID:26376969 AUTHORS Gilhus NE, Verschuuren JJ TITLE Myasthenia gravis: subgroup classification and therapeutic strategies. JOURNAL Lancet Neurol 14:1023-36 (2015) DOI:10.1016/S1474-4422(15)00145-3 PMID:26600875 AUTHORS Dalakas MC TITLE Future perspectives in target-specific immunotherapies of myasthenia gravis. JOURNAL Ther Adv Neurol Disord 8:316-27 (2015) DOI:10.1177/1756285615605700 PMID:27103470 AUTHORS Gilhus NE, Skeie GO, Romi F, Lazaridis K, Zisimopoulou P, Tzartos S TITLE Myasthenia gravis - autoantibody characteristics and their implications for therapy. JOURNAL Nat Rev Neurol 12:259-68 (2016) DOI:10.1038/nrneurol.2016.44 PMID:21180568 AUTHORS Gold R, Hohlfeld R, Toyka KV TITLE Progress in the treatment of myasthenia gravis. JOURNAL Ther Adv Neurol Disord 1:36-51 (2008) DOI:10.1177/1756285608093888 PMID:23252892 (autoantigen) AUTHORS Lindstrom J, Luo J TITLE Myasthenogenicity of the main immunogenic region. JOURNAL Ann N Y Acad Sci 1274:9-13 (2012) DOI:10.1111/j.1749-6632.2012.06766.x PMID:11231638 (autoantigen) AUTHORS Hoch W, McConville J, Helms S, Newsom-Davis J, Melms A, Vincent A TITLE Auto-antibodies to the receptor tyrosine kinase MuSK in patients with myasthenia gravis without acetylcholine receptor antibodies. JOURNAL Nat Med 7:365-8 (2001) DOI:10.1038/85520 PMID:21387385 (autoantigen) AUTHORS Higuchi O, Hamuro J, Motomura M, Yamanashi Y TITLE Autoantibodies to low-density lipoprotein receptor-related protein 4 in myasthenia gravis. JOURNAL Ann Neurol 69:418-22 (2011) DOI:10.1002/ana.22312 |