Myostatin-related muscle hypertrophy

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. 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 on 05-01-20

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.

Last updated on 05-01-20

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 on 05-01-20

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

It is not known how many people are diagnosed with myostatin-related muscle hypertrophy. 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 on 05-01-20

Where To Start

NHGRI - Whippets & myostatin

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.

Last updated on 04-27-20

Neuromuscluar Disease Center - Myostatin-related muscle hypertrophy

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.

Last updated on 04-27-20


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