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Genetic and Rare Diseases Information Center (GARD)

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Miyoshi myopathy


Other Names for this Disease

  • Miyoshi distal myopathy
  • MM
  • Muscular dystrophy, distal, late onset, autosomal recessive
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Overview

Miyoshi myopathy is a type of muscular dystrophy characterized by muscle weakness and atrophy (wasting), mainly in the distal parts of the legs.[1] The first symptoms typically begin in young adulthood (on average 20 years of age) and include weakness and atrophy of the calves (sometimes asymmetrically), leading to inability to jump, run or walk on tiptoes. Over a period of years, the weakness and atrophy typically spread to the thighs and gluteal muscles. The forearms may become mildly atrophic with decrease in grip strength.[1] It is caused by mutations in the DYSF gene and is inherited in an autosomal recessive manner.[2] Management may include physical therapy, use of mechanical aids, surgical intervention for orthopedic complications, respiratory aids, and social and emotional support.[1]
Last updated: 4/5/2011

References

  1. Masashi Aoki. Dysferlinopathy. GeneReviews. April 22, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1303/. Accessed 4/4/2011.
  2. I. Pénisson-Besnier. Miyoshi myopathy. Orphanet. April 2004; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=45448. Accessed 4/4/2011.
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Basic Information

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss the different types of Miyoshi myopathy. Click on the links below to go to OMIM and review these resources.
    Miyoshi muscular dystrophy 1 http://www.ncbi.nlm.nih.gov/omim/254130
    Miyoshi muscular dystrophy 2 http://www.ncbi.nlm.nih.gov/omim/613318
    Miyoshi muscular dystrophy 3 http://www.ncbi.nlm.nih.gov/omim/613319
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Miyoshi myopathy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Miyoshi distal myopathy
  • MM
  • Muscular dystrophy, distal, late onset, autosomal recessive
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.