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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Brody myopathy


Other Names for this Disease

  • Brody disease
  • Sarcoplasmic reticulum -Ca2+ATPase deficiency
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Overview

Brody disease is a type of myopahty or "disease of muscle." Signs and symptoms include difficulty relaxing muscles and muscle stiffness following exercise. The condition tends to be inherited in an autosomal recessive fashion. Some cases of Brody disease are caused by mutations in a gene called “ATP2A1,” for other cases the underlying genetic defect has not been identified.[1][2]
Last updated: 3/20/2009

References

  1. Barohn RJ. Muscle Diseases. In: Goldman L, Ausiello D. Cecil Medicine, 23rd ed. Philadelphia, PA: Saunders; 2007;
  2. Rose M, Griggs RC. Hereditary Nondegernative Neuromuscular Disease. In: Goetz CG . Textbook of Clinical Neurology, 3rd ed. Philadelphia PA: Saunders; 2007;
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Basic Information

In Depth Information

  • The 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. 
  • 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 Brody myopathy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Brody disease
  • Sarcoplasmic reticulum -Ca2+ATPase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.