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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
More Names
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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]

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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General Information

  • Genetics Home Reference (GHR) contains information on Brody myopathy. Click on the link to go to GHR and review the information.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • 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.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Brody myopathy. Click on the link to go to OMIM and review these resources.