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Diseases

Genetic and Rare Diseases Information Center (GARD)

Brody myopathy


Other Names for this Disease
  • Brody disease
  • Sarcoplasmic reticulum -Ca2+ATPase deficiency
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Tests & Diagnosis

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How is Brody disease diagnosed?

Brody disease is suspected in people with the characteristic symptoms of this disorder (e.g., peudomyotonia, myoglobinuria etc...). In addition, people with this disease may have normal or slightly elevated creatine kinase levels. Click here to learn more about creatine kinase testing. A careful evaluation of muscle tissue samples obtained from muscle biopsy shows type 2 A and B atrophy with angulated fibers. Also, biochemical and immunological testing of the activity of certain proteins in the cell (i.e., sarcoplasmic reticulum Ca2+ ATPase) can also help confirm the diagnosis.[1]
Last updated: 3/20/2009

References
  1. Rose M, Griggs RC. Hereditary Nondegernative Neuromuscular Disease. In: Goetz CG . Textbook of Clinical Neurology, 3rd ed. Philadelphia PA: Saunders; 2007;


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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.