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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

Myostatin-related muscle hypertrophy

Reviewed December 2008

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. Myostatin-related muscle hypertrophy is not known to cause any medical problems, and affected individuals are intellectually normal.

How common is myostatin-related muscle hypertrophy?

The prevalence of this condition is unknown.

What genes are related to myostatin-related muscle hypertrophy?

Mutations in the MSTN gene cause myostatin-related muscle hypertrophy. The MSTN gene provides instructions for making a protein called myostatin, which is active in muscles used for movement (skeletal muscles) both before and after birth. This protein normally restrains muscle growth, ensuring that muscles do not grow too large. Mutations that reduce the production of functional myostatin lead to an overgrowth of muscle tissue.

Related Gene(s)

Changes in this gene are associated with myostatin-related muscle hypertrophy.

  • MSTN

How do people inherit myostatin-related muscle hypertrophy?

Myostatin-related muscle hypertrophy has a pattern of inheritance known as incomplete autosomal dominance. People with a mutation in both copies of the MSTN gene in each cell (homozygotes) have significantly increased muscle mass and strength. People with a mutation in one copy of the MSTN gene in each cell (heterozygotes) also have increased muscle bulk, but to a lesser degree.

Where can I find information about diagnosis or management of myostatin-related muscle hypertrophy?

These resources address the diagnosis or management of myostatin-related muscle hypertrophy and may include treatment providers.

  • Gene Review: Myostatin-Related Muscle Hypertrophy (http://www.ncbi.nlm.nih.gov/books/NBK1498/)
  • Genetic Testing Registry: Myostatin-related muscle hypertrophy (http://www.ncbi.nlm.nih.gov/gtr/conditions/C2931112)

You might also find information on the diagnosis or management of myostatin-related muscle hypertrophy in Educational resources (http://www.ghr.nlm.nih.gov/condition/myostatin-related-muscle-hypertrophy/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/myostatin-related-muscle-hypertrophy/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about myostatin-related muscle hypertrophy?

You may find the following resources about myostatin-related muscle hypertrophy helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for myostatin-related muscle hypertrophy?

  • Muscle hypertrophy syndrome

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about myostatin-related muscle hypertrophy?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding myostatin-related muscle hypertrophy?

autosomal ; cell ; gene ; hypertrophy ; inheritance ; mutation ; pattern of inheritance ; prevalence ; protein ; syndrome ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Carnac G, Ricaud S, Vernus B, Bonnieu A. Myostatin: biology and clinical relevance. Mini Rev Med Chem. 2006 Jul;6(7):765-70. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16842126?dopt=Abstract)
  • Gene Review: Myostatin-Related Muscle Hypertrophy (http://www.ncbi.nlm.nih.gov/books/NBK1498/)
  • Schuelke M, Wagner KR, Stolz LE, Hübner C, Riebel T, Kömen W, Braun T, Tobin JF, Lee SJ. Myostatin mutation associated with gross muscle hypertrophy in a child. N Engl J Med. 2004 Jun 24;350(26):2682-8. (http://www.ncbi.nlm.nih.gov/pubmed/15215484?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: December 2008
Published: July 28, 2014