A case of dysferlinopathy asymptomatic for 10 years after an episode of transient muscle weakness

Yoshito Kobayashi, Toshiaki Takahashi, Hisae Sumi, Harutoshi Fujimura, Masashi Aoki, Masanori P. Takahashi, Saburo Sakoda

研究成果: Article

3 被引用数 (Scopus)


We report a 28-year-old male with dysferlinopathy, who has remained asymptomatic for 10 years from a rhabdomyolysis-like episode. He had been in good health since birth, but felt difficulty in walking after a month and a half of manual labor at 18 years old (at the year 2000). Rhabdomyolysis was suspected because of muscle weakness and elevated serum CK of 28,094 U/L. He was hospitalized and his muscle weakness improved. He was referred to us, because his serum CK remained around 2,000 U/L. Histological analysis of muscle, when antidysferlin antibody was unavailable, was not informative but later analysis at the age of 23 using preserved specimen showed loss of dysferlin immunoreactivity. Subsequently, a missense mutation (c.2997G>T) and a deletion (c.3373delG) of the dysferlin gene, both of which are common in Miyoshi myopathy in Japanese, were identified. He continuously showed hyper-CKemia, but no apparent muscle weakness emerged for more than ten years. Reports on asymptomatic dysferlinopathy over such a long duration are rare. This case may suggest that genetic factors, environmental factors such as intensity of work-load, or both, might affect the clinical course of dysferlinopathy. Further follow-up is necessary.

ジャーナルClinical Neurology
出版物ステータスPublished - 2012 7 1

ASJC Scopus subject areas

  • Clinical Neurology

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