Paroxysmal choreoathetosis is a rare genetic condition that involves uncontrollable muscle movements, known as attacks, on one or both sides of the body. These attacks may happen at any time and usually occur due to alcohol, coffee or tea, excitement, stress, fatigue, or chocolate. Attacks can last anywhere from 10 seconds to over an hour, and usually involve the arms, legs, trunk, and facial muscles. Some individuals with paroxysmal choreoathetosis may experience muscle tightening before and after attacks, but this does not occur for everyone.
Paroxysmal choreoathetosis usually begins in childhood or the early teen years, but it can also appear later in adulthood. Individuals should try to avoid alcohol and caffeine as much as possible as these can lead to more attacks. There are drug therapies for this condition that have been shown to work very well and reduce or even eliminate these attacks. Because of the drug therapies, individuals with paroxysmal choreoathetosis can live normal lives. The attacks also tend to get better with age.
Paroxysmal choreoathetosis is inherited in an autosomal dominant manner. We inherit our genes in pairs, typically one from each parent. Our genes are what control the growth, development, and function of our bodies. If a mistake or error occurs in a gene, it can cause problems. Autosomal dominant means an individual inherits only one copy of the changed gene, or mutation, in order to have the condition. If both parents carry one copy of the changed gene, they have the condition, and their children would have a 75% chance of having the condition. If only one parent carries a copy of the changed gene, their children have a 50% chance of having the condition.
If you or a family member has been diagnosed with paroxysmal choreoathetosis, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.
Description Last Updated: Feb 25, 2018