PRDM8-related progressive myoclonus epilepsy

PRDM8-related progressive myoclonus epilepsy is an extremely rare genetic brain disorder caused by changes (mutations) in the PRDM8 gene. Progressive myoclonus epilepsy (PME) refers to a group of conditions where patients experience both epileptic seizures and myoclonus, which are sudden, brief, involuntary muscle jerks. Over time, these symptoms tend to get worse, which is why the condition is called "progressive." This disease affects the nervous system, particularly the brain's ability to control movement and electrical activity. People with this condition typically develop seizures and myoclonic jerks that become more frequent and harder to control over time. Cognitive decline, meaning a gradual loss of thinking and learning abilities, may also occur as the disease progresses. Difficulty with coordination and walking (ataxia) is another common feature. Because this condition is so rare, treatment options are currently limited to managing symptoms. Anti-epileptic medications are used to try to reduce the frequency and severity of seizures and myoclonus, but there is no cure or disease-modifying therapy available at this time. Management requires a team of specialists working together to address the various challenges patients face.

Bring these to your next appointment

• Q1.What type of seizures does my family member have, and how does this affect treatment choices?,Which anti-epileptic medications are safest and most effective for progressive myoclonus epilepsy?,Are there any medications we should avoid because they could make the myoclonus worse?,How quickly might we expect the disease to progress, and what milestones should we watch for?,Are there any clinical trials or research studies we could participate in?,What therapies (physical, occupational, speech) would be most helpful right now?,Should other family members be tested for carrier status of the PRDM8 gene mutation?

Common questions about PRDM8-related progressive myoclonus epilepsy