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

Research output: Contribution to journalArticlepeer-review

4 Citations (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.

Original languageEnglish
Pages (from-to)495-498
Number of pages4
JournalClinical Neurology
Issue number7
Publication statusPublished - 2012 Jul


  • Asymptomatic hyperCKemia
  • Dysferlin
  • Limb girdle muscular dystrophy
  • Miyoshi myopathy


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