What is paroxysmal choreoathetosis?
Paroxysmal choreoathetosis (also known as paroxysmal kinesigenic choreathetosis) is a neurological disorder that involves episodes of unwanted, uncontrollable movements, often of the muscles in the arms, legs, face, and body. One or both sides of the body may be affected.
The episodes can be as short as 10 seconds or last longer than an hour. The frequency of episodes varies from person to person, with some people having only one episode a month to others having several a day. Paroxysmal choreoathetosis can be triggered by sudden movements, such as standing up quickly. People may feel their muscles get tight before an episode starts or a tingling sensation.
Some people may have episodes:
- After drinking alcohol or caffeine
- When cold
- When tired or stressed
Paroxysmal choreoathetosis often begins in childhood or adolescence. It can affect a few members of a family, or only one person. The cause is unknown but the disorder may be associated with the PRRT2 gene which is also connected to epilepsy. There is no test to conclusively diagnose paroxysmal choreoathetosis. The drug carbamazepine is most often used to treat the disorder.
How can I or a loved one help improve care for people with paroxysmal choreoathetosis?
Consider participating in a clinical trial so clinicians and scientists can learn more about paroxysmal choreoathetosis 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 paroxysmal choreoathetosis at Clinicaltrials.gov.
Where can I find more information about paroxysmal choreoathetosis?
Information may be available from the following organizations and resources:
National Organization of Rare Disorders (NORD)
Phone: 203-744-0100 or 800-999-6673