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Diseases

Genetic and Rare Diseases Information Center (GARD)

Myosin storage myopathy


Other Names for this Disease
  • Hyaline body myopathy
Related Diseases
  • Myosinopathies
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Overview

Myosin storage myopathy is an inherited condition that affects the muscles. Signs and symptoms generally begin during infancy or early childhood; however, some affected people may not develop symptoms until early adulthood and there are even reports of people who are asymptomatic into their 40s. Myosin storage myopathy is primarily characterized by muscle weakness with minimal or very slow progression. As a result, affected people may experience delayed motor milestones (i.e. walking), trouble climbing stairs, difficulty lifting arms above shoulder level, and less commonly, breathing problems.[1][2] Myosin storage myopathy is caused by changes (mutations) in the MYH7 gene and is typically inherited in an autosomal dominant manner.[1] Treatment is generally supportive and may include orthopedic treatments, as well as physical, occupational or speech therapy.[2][3]
Last updated: 2/8/2016

References

  1. Myosin storage myopathy. Genetics Home Reference. February 2013; http://ghr.nlm.nih.gov/condition/myosin-storage-myopathy.
  2. Glenn Lopate, MD. Congenital Myopathies. Medscape Reference. August 2014; http://emedicine.medscape.com/article/1175852-overview.
  3. NINDS Congenital Myopathy Information Page. National Institute of Neurological Disorders and Stroke. October 2015; http://www.ninds.nih.gov/disorders/myopathy_congenital/myopathy_congenital.htm.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    Autosomal dominant myosin storage myopathy
    Autosomal recessive myosin storage myopathy
  • 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 Myosin storage myopathy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Hyaline body myopathy
Related Diseases
  • Myosinopathies
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.