MuSK-Associated Myasthenia Gravis: Clinical Features and Management
| Autor: | Antonio Toscano, Carmelo Rodolico, Carmen Bonanno, Giuseppe Vita |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Mini Review Generalized muscle weakness Disease MuSK-MG therapy Gastroenterology lcsh:RC346-429 Pathogenesis 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine rituximab muscle-specific tyrosine kinase Internal medicine medicine Respiratory system lcsh:Neurology. Diseases of the nervous system business.industry atypical onset tongue atrophy medicine.disease Acetylcholinesterase Myasthenia gravis Muscle atrophy 030104 developmental biology chemistry Neurology Rituximab Neurology (clinical) medicine.symptom business 030217 neurology & neurosurgery medicine.drug |
| Zdroj: | Frontiers in Neurology, Vol 11 (2020) Frontiers in Neurology |
| ISSN: | 1664-2295 |
| DOI: | 10.3389/fneur.2020.00660/full |
| Popis: | Muscle-specific tyrosine kinase (MuSK) myasthenia gravis (MG) is a rare, frequently more severe, subtype of MG with different pathogenesis, and peculiar clinical features. The prevalence varies among countries and ethnic groups, affecting 5-8% of all MG patients. MuSK-MG usually has an acute onset affecting mainly the facial-bulbar muscles. The symptoms usually progress rapidly, within a few weeks. Early respiratory crises are frequent. The disease may lead to generalized muscle weakness up to muscle atrophy. The main bulbar involvement, the absence of significant thymus alterations, and the association with HLA class II DR14, DR16, and DQ5 alleles have been confirmed. Atypical onset, such as ocular involvement, lack of symptom fluctuations, acetylcholinesterase inhibitors failure, and negative results of electrophysiologic testing, if not specifically performed in the mainly involved muscle groups, makes MuSK-MG diagnosis challenging. In most cases, steroids are effective. Conventional immunosuppressants are not commonly able to replace steroids in maintaining a satisfactory long-term control of symptoms. However, the majority of MuSK-MG patients are refractory to treatment. In these cases, the use of rituximab showed promising results, resulting in sustained symptom control. |
| Databáze: | OpenAIRE |
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