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.

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 visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with congenital myopathy at Clinicaltrials.gov.

Where can I find more information about congenital myopathy?

More information is available from:

Genetic and Rare Diseases (GARD) Information Center

Content source: https://www.ninds.nih.gov/health-information/disorders/congenital-myopathy Accessed June 22, 2023.

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