Choreoathetosis familial paroxysmal

Choreoathetosis familial paroxysmal is a rare neurological disorder characterized by episodes of irregular and involuntary movements of the limbs, face, and trunk (choreoathetosis). These episodes, often triggered by alcohol, caffeine, stress, or physical fatigue, typically last for several hours and can occur multiple times a week.

Symptoms

The primary symptom of choreoathetosis familial paroxysmal is the sudden onset of choreoathetosis, which can include jerky, irregular movements, muscle weakness, and involuntary muscle contractions. Other symptoms can include dystonia, ataxia, and migraine headaches.

Causes

Choreoathetosis familial paroxysmal is caused by mutations in the PRRT2 gene. This gene provides instructions for making a protein that is involved in the function of nerve cells, particularly in the brain. Mutations in the PRRT2 gene disrupt the normal function of nerve cells, leading to the symptoms of choreoathetosis familial paroxysmal.

Diagnosis

Diagnosis of choreoathetosis familial paroxysmal is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. Genetic testing can confirm a diagnosis in some cases.

Treatment

Treatment for choreoathetosis familial paroxysmal is symptomatic and supportive. Medications may be used to help manage symptoms. Physical therapy may also be beneficial.

Prognosis

The prognosis for individuals with choreoathetosis familial paroxysmal varies. Some individuals may experience mild symptoms and have a normal life expectancy, while others may experience severe symptoms that significantly affect their quality of life.

See also

• Chorea
• Athetosis
• Paroxysmal movement disorders
• PRRT2