ATYPICAL CASE OF GENERALIZED MuSK MYASTHENIA GRAVIS

作者：Vavrek Evgenii^*; Muradyan Naira; Alexandrov Alexander S; Koleva Natalia; Daskalov Marin

来源：Comptes Rendus de l Academie Bulgare des Sciences, 2013, 66(8): 1191-1196.

• myasthenia gravis (MG)
• muscle-specific tyrosine kinase (MuSK)
• acetyl-cholyne receptor (AChR)
• neuromuscular junction (NMJ)
• antibodies (Ab)
• late-onset myasthenia gravis (LOMG)
• myasthenic crisis
• single fibre electromyography (SFEMG)

Myasthenia gravis (MG) is an autoimmune disorder that affects the neuromuscular junction (NMJ) at the postsynaptic level. Although the cause of the disorder is unknown, the role of immune responses (circulating antibodies against the nicotinic acetylcholine receptors) in its pathogenesis is well established. We present a case of a generalized myasthenia gravis with positive anti-MuSK antibodies in a 60-year-old woman admitted to our department with myasthenic crisis. Repetitive nerve stimulation did not reveal decrement. Single fibre EMG was performed and it showed increased jitter. Anti-MuSK antibodies were detected by radioimmunoassay using highly purified MuSK recombinant antigen. The patient was treated successfully with intravenous immunoglobulin. This case has some differences from the typical presentation of MuSK MG.

• 出版日期2013