Dysferlinopathy

Dysferlinopathies are a group of muscle diseases that have a slow progression of muscle weakness and atrophy (wasting).  The diseases in the group are: 
  • Miyoshi myopathy, where there is weakness and atrophy (wasting)of the muscles of the legs that are closer to  the feet (distal myopathy)
  • Limb-girdle muscular dystrophy type 2B (LGMD2B), where there is  weakness and atrophy of the muscles of the pelvic and shoulder
  • Scapuloperoneal syndrome, where weakness and atrophy affect both the distal legs and shoulder girdle muscles
  • Distal myopathy with anterior tibial onset, where there is weakness of the front part of the leg and foot drop
  • A form of congenital muscular dystrophy that was referred in a few people, and
  • A condition where there are not symptoms but only an elevated level of the muscular enzyme CK in the blood tests. 
All dysferlinopathies are caused by pathogenic variations (mutations) in the  DYSF gene which result in a deficiency of the  protein dysferlin (hence, the name),  important for the efficient repair of muscle fibers. Inheritance is autosomal recessive. There is no cure or specific treatment. Management depend on the symptoms and is aimed to improve the quality of life and the life expectation. Research to find an effective treatment is ongoing.