Congenital Myasthenia

What is congenital myasthenia?

Congenital myasthenia is an inherited disorder that usually develops at or near birth or in early childhood and involves muscle weakness and fatigue. It happens when chemicals called neurotransmitters that help relay information between the nerve cells and muscles aren't properly released and received.

There are several types of congenital myasthenia that are caused by specific gene mutations. Symptoms of congenital myasthenia include:

In babies

  • Lack of muscle control
  • Not meeting development goals like rolling over or sitting

In older children

  • Weakness while doing physical activity
  • Droopy eyelids, a “lazy eye,” or double vision (diplopia)
  • Difficulty talking or swallowing

Congenital myasthenia can be identified by the weakness getting worse with activity and feeling better with rest. Medicine is used to treat congenital myasthenia by improving the signaling between nerves and muscles.

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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 myasthenia?

Consider participating in a clinical trial so clinicians and scientists can learn more about the congenital myasthenia 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 myasthenia at Clinicaltrials.gov.

Where can I find more information about congenital myasthenia?

The following resources may help:

Genetic and Rare Diseases (GARD) Information Center

MedlinePlus