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SHARE: Congenital Myopathy
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            What is congenital myopathy?

Congenital myopathy is a term for any genetic muscle disorder that is typically noticed at birth and includes weakness and lack of muscle tone. Some congenital myopathies may not show symptoms until infancy or childhood. Myopathy happens when there is a problem with a muscle, a nerve that works with the muscle, or the brain itself. There are many types of congenital myopathy with varying severity. Some symptoms may remain stable or progress slowly. The following is a range of symptoms:

Lack of muscle control and weakness
	Hard time breathing
	Hard time eating

Slow to reach developmental goals
	Delayed motor (movement) skills
	Skeletal problems (such as a curved spine)

There is no cure for congenital myopathy. Physical, occupational, and speech therapy are some treatments that attempt to support the person with symptoms. Gene therapy can provide some treatment for some of the congenital myopathies.

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Learn About Clinical Trials

Clinical trials are studies that allow us to learn more about disorders and improve care. They can help connect patients with new and upcoming treatment options.

How can I or my loved one help improve care for people with congenital myopathy?

Consider participating in a clinical trial so clinicians and scientists can learn more about the congenital myopathy and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visitNIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with congenital myopathy atClinicaltrials.gov.

Where can I find more information about congenital myopathy?

More information is available from:

Genetic and Rare Diseases (GARD) Information Center
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The NINDS Publication Catalog offers printed materials on neurological disorders for patients, health professionals, and the general public. All materials are free of charge, and a downloadable PDF version is also available for most publications. Health Information
  
    

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      Last reviewed on November 28, 2023
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