Progressive myoclonic epilepsy type 3 (PME3) is a genetic neurodegenerative disease that involves muscle contractions (myoclonus) and seizures (epilepsy) that occur separately from each other. Symptoms of PME3 include seizures, loss of developmental skills, muscle spasms/contractions that may occur more frequently in the morning or when under stress, memory problems, impairment of vision and/or hearing, and possible depression. Problems with the thyroid gland and digestion may also occur.
PME3 usually develops in early childhoods and it is caused by a mutation in the KCTD7 gene. A gene is made up of DNA that codes for proteins responsible for normal bodily and cellular processes. The KCTD7 gene is inherited in an autosomal recessive pattern, which means both parent must be affected by or carriers of the gene.
Life expectancy for PME3 ranges from the late teens to the 30s. PME3 is typically diagnosed with an electroencephalogram (EEG), which detects electrical activity in the brain. Genetic testing may also be available to confirm the KCTD7 mutated gene and PME3 diagnosis.
There is currently no cure for PME3, but its symptoms can be managed. Treatment may include certain anticonvulsant drugs to control seizures. Genetic counseling may be recommended for affected individuals and their families as well. If you or a family member has been diagnosed with PME3, speak with your doctor to learn more information. Support groups may also be available for further resources.
Description Last Updated: Aug 21, 2018