Progressive myoclonic epilepsy 6 (PME6) is a neurologic disorder that involves the onset of ataxia (loss of coordinated movement in limbs) in the first years of life, followed by action myoclonus (involuntary muscle contractions) and seizures in late childhood.
Symptoms of PME6 may also include a loss of reflexes and absence (brief lapse in attention) or tonic-clonic seizures (classic seizure with convulsions). Additional symptoms may include scoliosis (curved spine) and syndactyly (fused fingers/toes). PME6 can also cause high levels of the creatine kinase (protein indicating muscle and kidney damage) in the blood. Those with PME6 may also lose the ability to walk in their teens and 20’s and mild memory difficulties may present in their 30’s.
PME6 is heritable (passed on within families) – it is an autosomal recessive disorder caused by a mutation (change) in the GOSR2 gene found on chromosome 17. PME6 is also called GOSR2-related progressive myoclonus ataxia for this reason. Genes are made up of DNA that create proteins responsible for normal body and cellular processes. “Autosomal recessive” means that both parents must either have PME6 or be a carrier of the GOSR2 mutated gene for their offspring to get the disease. PME6 is very rare with only a few reported cases.
PME6 may be diagnosed through an EEG to visualize unusual brain activity after a doctor’s investigation of symptoms and family medical history. Blood analysis may be done to check for relevantly high levels of serum creatine kinase. Genetic testing may be available to confirm the GOSR2 mutation.
The symptoms of PME6 may be treated individually – antiseizure medications may be prescribed, scoliosis can be treated with physical therapy and surgery, and surgery to separate syndactyly-fused fingers or toes can be available.
If you or a family member have been diagnosed with PME6, speak with your doctor to learn more information.
Description Last Updated: Aug 22, 2018