Paroxysmal dystonic choreoathetosis

Paroxysmal Dystonic Choreoathetosis

Paroxysmal dystonic choreoathetosis (PDC), also known as paroxysmal nonkinesigenic dyskinesia (PNKD), is a rare neurological disorder characterized by sudden, involuntary movements. These episodes can include dystonia, chorea, and athetosis, and are typically triggered by stress, fatigue, or alcohol consumption. Unlike other paroxysmal dyskinesias, PDC is not triggered by movement.

Clinical Presentation

Patients with PDC experience episodes of abnormal movements that can last from a few minutes to several hours. These episodes are characterized by:

• Dystonia: Sustained muscle contractions causing twisting and repetitive movements or abnormal postures.
• Chorea: Irregular, unpredictable, and non-rhythmic movements that seem to flow from one muscle to the next.
• Athetosis: Slow, writhing movements, particularly of the hands and feet.

The frequency and severity of episodes can vary widely among individuals. Some patients may experience multiple episodes per day, while others may have only a few episodes per year.

Etiology

PDC is often familial and can be inherited in an autosomal dominant pattern. Mutations in the PNKD gene, also known as MR-1, have been associated with the disorder. The exact pathophysiological mechanisms remain unclear, but it is believed that the mutations affect neurotransmitter regulation in the brain.

Diagnosis

Diagnosis of PDC is primarily clinical, based on the characteristic features of the episodes and the absence of other neurological disorders. Genetic testing can confirm the diagnosis in familial cases by identifying mutations in the PNKD gene.

Management

There is no cure for PDC, but symptoms can be managed with lifestyle modifications and medications. Patients are advised to avoid known triggers such as stress and alcohol. Medications that may help reduce the frequency and severity of episodes include:

• Benzodiazepines: Such as clonazepam, which can help reduce muscle spasms.
• Anticonvulsants: Such as carbamazepine or valproic acid, which may help stabilize neuronal activity.

Prognosis

The prognosis for individuals with PDC varies. While the disorder can significantly impact quality of life, it is not life-threatening. With appropriate management, many patients can lead relatively normal lives.

Also see

• Dystonia
• Chorea
• Athetosis
• Paroxysmal kinesigenic dyskinesia
• Neurological disorder

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External links

• Comprehensive information from the National Institute of health.
  

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