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Disease Profile

Myostatin-related muscle hypertrophy

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.


US Estimated

Europe Estimated

Age of onset






Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable



Musculoskeletal Diseases


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]


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.

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.

Learn more

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.


  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/.

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