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Diseases

Genetic and Rare Diseases Information Center (GARD)

Myostatin-related muscle hypertrophy


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Tests & Diagnosis

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How is myostatin-related muscle hypertrophy diagnosed?

Myostatin-related muscle hypertrophy is diagnosed based upon the clinical signs and symptoms in the patient (i.e, reduced body fat and increased muscle size) and genetic testing. Body fat can be measured by ultrasound or with a caliper. Skeletal muscle size can be measured by ultrasound, dual-energy x-ray absorptiometry (DEXA), or MRI.[1] Myostatin-related muscle hypertrophy is a very rare condition that is caused by mutations in the MSTN gene. Clinical genetic testing for this condition appears to be available on a limited basis. 
Last updated: 4/20/2016

References
  1. Wagner KR, Cohen JS. Myostatin-Related Muscle Hypertrophy. GeneReviews. July 3, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1498/.


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.
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.