Myosin storage myopathy
Other Names for this Disease
- Hyaline body myopathy
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 Myosin storage myopathy is caused by changes (mutations) in the MYH7 gene and is typically inherited in an autosomal dominant manner. Treatment is generally supportive and may include orthopedic treatments, as well as physical, occupational or speech therapy.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.
Last updated: 2/8/2016
- Myosin storage myopathy. Genetics Home Reference. February 2013; http://ghr.nlm.nih.gov/condition/myosin-storage-myopathy.
- Glenn Lopate, MD. Congenital Myopathies. Medscape Reference. August 2014; http://emedicine.medscape.com/article/1175852-overview.
- 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.
- Genetics Home Reference (GHR) contains information on Myosin storage myopathy. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.