Epilepsy, Rolandic with Paroxysmal Exercise-Induced Dystonia and Writer’s Cramp

Epilepsy, Rolandic with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp

Overview

Type of disease: Rare conditions

Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer’s cramp (RE-PED-WC) is a rare syndrome that combines three neurologic disorders. Symptoms of RE-PED-WC include short, rolandic seizures (seizures that involve twitching, numbness, or tingling of the face/tongue), exercised-induced dystonia (repetitive muscle contractions), and writer’s cramp (contractions of the hand, fingers, and/or forearm muscles). All three symptoms begin during infancy, and peak during childhood.

RE-PED-WC is heritable (passed on in families) and is caused by a single genetic mutation in the EPRPDC gene. Genes are made up of DNA passed from parent to child that create proteins responsible for normal bodily/cellular processes. RE-PED-WC is passed on by autosomal recessive inheritance. This means that RE-PED-WC in order to have the disease you must recieve a mutated gene from each parent.

Typically, seizures are diagnosed through history and with brain scans like an EEG. Dystonia may be diagnosed through an evaluation of symptoms and medical history, or with an EMG, which monitors electric signals in the muscles. Genetic testing may be available to confirm diagnosis with the mutant EPRPDC gene. Seizures may be treated with anticonvulsant medication to help reduce their frequency, and dystonia may be treated with physical therapy or various drugs.

If you or a family member have been diagnosed with RE-PED-WC, speak with your doctor to learn more information. Support groups may also be available for further resources.

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