Dysferlinopathy: A Case Report and Literature Update

Kutlu O., KURT C. E., Unsal I., Aribas Z., Renkliyildiz B., Eruzun H., ...More

ISTANBUL MEDICAL JOURNAL, vol.17, no.4, pp.136-140, 2016 (ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 17 Issue: 4
  • Publication Date: 2016
  • Doi Number: 10.5152/imj.2016.27870
  • Journal Indexes: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Page Numbers: pp.136-140
  • Hacettepe University Affiliated: Yes


Dysferlinopathy is a rare autosomal recessive myopathy, resulting in the lack or absence of dysferlin production caused by mutations in the encoding gene. Dysferlin is a sarcolemmal membrane protein involved in the repair of membrane damage caused by calcium. There are four identified phenotypic dysferlinopathies, two of which are relatively frequently observed. Miyoshi myopathy and limb-girdle muscular dystrophy type 2B are frequently observed; the two very rare dysferlinopathies are distal anterior compartment myopathy and scapuloperoneal muscular dystrophy (observed in only one case). Serum CK levels are quite high, even in the pre-clinical period. A muscle biopsy typically shows dystrophic patterns, often accompanied with T-lymphocyte-based inflammatory changes. The clinical course of dysferlinopathy is usually much better than that of other recessive trait muscular dystrophies. Dysferlinopathies should be considered in the differential diagnosis of polymyositis to avoid unnecessary and potentially dangerous medications such as oral steroids or immunosuppressive therapies. Here we report the case a 21-year-old Syrian patient diagnosed with dysferlinopathy who has had serious CK elevations from the age of 1 and who had been diagnosed with polymyositis by a muscle biopsy 7 years ago and who therefore used steroids/azathioprine for the following 3 years.