Abstract:

A 53-year-old man presented with bilateral ptosis, diffuse muscle weakness andeasy fatigability, and was admitted to Toyonaka Municipal Hospital, Osaka,Japan. The patient was diagnosed with myasthenia gravis in his childhood. Sincethen, he had been developing muscle weakness with atrophy. A nerve conductionstudy showed motor and sensory neuropathy. Repetitive stimulation of his acces-sory nerve at 3 Hz showed 30.4% attenuation. We suspected that his symptomswere a result of myasthenia gravis and/or Guillain–Barre syndrome, and startedgamma globulin therapy and prednisolone. Because muscle weakness did notrespond to our therapy, we carried out muscle biopsy. He was then diagnosed withcentronuclear myopathy. Genetic analysis showed the presence of dynamin 2mutation.

日本語要旨:

重症筋無力症やギラン・バレー症候群に類似した臨床徴候を呈した、dynamin 2変異による中心核ミオパチーと末梢神経障害の53歳男性例を 報告した。