Other Names for this Disease
- Miyoshi distal myopathy
- Muscular dystrophy, distal, late onset, autosomal recessive
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The onset of signs and symptoms is typically in mid to late childhood or early-adulthood, with an average age at onset of 19 years. Young adults typically have muscle weakness and atrophy (wasting), most marked in the distal parts of the legs, especially the gastrocnemius (calf) and soleus (Achilles tendon) muscles. Early on, affected individuals are not able to stand on tiptoe, but retain the ability to stand on the heels. Over a period of years, the weakness and atrophy spread to the thighs and gluteal muscles, at which time climbing stairs, standing, and walking become difficult. The forearms may become mildly atrophic with decrease in grip strength; the small muscles of the hands are not affected. The weakness may eventually include the shoulder girdle muscles. The weakness and atrophy may be asymmetric (occurring more on one side than the other). Progression of the condition is typically slow.
Last updated: 4/5/2011
- Masashi Aoki. Dysferlinopathy. GeneReviews. April 22, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1303/. Accessed 4/4/2011.