Dysferlinopathy course and sportive activity: Clues for possible treatment

C. Angelini, E. Peterle, A. Gaiani, L. Bortolussi, C. Borsato

Research output: Contribution to journalArticlepeer-review


LGMD2B is a frequent proximo-distal myopathy with rapid evolution after age 20. Exacerbating factors may be physical exercise and inflammation. There is very little information about the effect of sportive activity in LGMD2B, since eccentric exercise frequently results in muscle damage. LGMD2B has often an onset with myalgia and MRI imaging (STIR-sequences) shows myoedema. In a prolonged observational study of a series of 18 MM/LGMD2B patients we have studied the pattern of clinical and radiological evolution. The disease has an abrupt onset in the second decade and most patients perform sports before definite disease onset. On the basis of Gardner-Medwin and Walton scale, grade 4 is reached two years faster in patients who performed sports (over 1000 hours). Other considerations regarding pathogenetic mechanism and response to treatment show a poor response to immunosuppressive treatment of muscle inflammation. Preventing a strenuous physical activity should be recommended in patients with high CK and diagnosed or suspected to have dysferlin deficiency.

Original languageEnglish
Pages (from-to)127-132
Number of pages6
JournalActa Myologica
Issue numberOCTOBER
Publication statusPublished - Oct 2011


  • Dysferlin
  • Pathogenesis
  • Physical exercise
  • Sport activity

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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