This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Dysferlinopathies are a group of muscle diseases that have a slow progression of muscle weakness and atrophy (wasting). The diseases in the group are:
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.
For more information, visit GARD.