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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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
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

Testing Resources

  • 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.
It is not known how many people are diagnosed with myostatin-related muscle hypertrophy.[1][2] Unfortunately for the rare diseases, there's often not a calculated incidence or prevalence. There is no official method for tracking these conditions. 
Last updated: 4/20/2016

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Myostatin-related muscle hypertrophy. This website is maintained by the National Library of Medicine.
  • The Neuromuscular Disease Center at Washington University has a online resource that outlines common signs, symptoms, and other features of a variety of muscle conditions, including myostatin-related muscle hypertrophy. Click on the link above to view this information.
  • The National Human Genome Research Institute features an article describing the role mutations in the myostatin (MTSN) gene play in increasing muscle mass and enhancing racing performance in dogs (whippets). To read more about this click on the link above.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Myostatin-related muscle hypertrophy. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • How many people are diagnosed with myostatin-related muscle hypertrophy? See answer

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


  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/.