National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Myostatin-related muscle hypertrophy

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I think my daughter has this condition.  How can I go about having her tested?

The following information may help to address your question:


What is myostatin-related muscle hypertrophy?

Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance.[1][2]
Last updated: 4/20/2016

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.[2] 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

How can I have my daughter evaluated for this?

A genetic professional would be able to evaluate your daughter for myostatin-related muscle hypertrophy. Genetics professionals are a source of information for individuals and families regarding genetic diagnosis, natural history, treatment, mode of inheritance, and genetic risks to other family members. To find a genetics clinic, we recommend that you contact your primary doctor for a referral. Click here to learn more about genetic consultations.

The following online resources can also help you find a genetics professional in your community:

Last updated: 4/20/2016

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

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GARD Information Specialist

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  1. Myostatin-related muscle hypertrophy. Genetics Home Reference. December 2008; https://ghr.nlm.nih.gov/condition/myostatin-related-muscle-hypertrophy.
  2. Wagner KR, Cohen JS. Myostatin-Related Muscle Hypertrophy. GeneReviews. July 3, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1498/.