Abstract
AbstractOculopharyngeal muscular dystrophy is typically characterized by late‐onset, slowly progressive bilateral ptosis and dysphagia. We report a 64‐year‐old Japanese man presenting with ptosis, diplopia and swallowing difficulty. He had consistently complained of significant diurnal fluctuations of clinical symptoms since onset at the age of 53 years. He was diagnosed with seronegative myasthenia gravis, and was treated with an acetylcholinestrase inhibitor for 10 years. On admission, a muscle biopsy was carried out, and the result was mild non‐specific myogenic change. However, gene analysis showed heterogeneous polyalanine expansion in the coding region of poly(A) binding protein nuclear. This case indicates that fluctuating motor signs could accompany muscle weakness in oculopharyngeal muscular dystrophy. Diagnosis might be delayed because of the atypical clinical features and slow symptom progression.
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