title: Dysferlinopathy course and sportive activity: clues for possible treatment.
abstract: 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.
authors: Department of Neurosciences, University of Padova, Italy. corrado.angelini@unipd.it
authors: C
authors: C
authors: Angelini
authors: E
authors: E
authors: Peterle
authors: A
authors: A
authors: Gaiani
authors: L
authors: L
authors: Bortolussi
authors: C
authors: C
authors: Borsato
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D003402:Creatine Kinase / Q000378:metabolism*; D018450:Disease Progression; D016189:Dystrophin / Q000378:metabolism*; D015444:Exercise; D005260:Female; D006801:Humans; D006948:Hyperkinesis / Q000150:complications* / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D007249:Inflammation / Q000150:complications* / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000293:injuries* / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000453:epidemiology / Q000209:etiology / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D017063:Outcome Assessment, Health Care; D018579:Patient Selection; D012307:Risk Factors; D055502:Secondary Prevention; D012720:Severity of Illness Index; D013177:Sports; D015898:Tomography Scanners, X-Ray Computed
chemical_list: D016189:Dystrophin; D007166:Immunosuppressive Agents; D003402:Creatine Kinase