progressive myoclonic epilepsy type 1

Genetics

• autosomal recessive
• associated with defects in CSTB

Clinical manifestations

• severe, stimulus-sensitive myoclonus & tonic-clonic seizures
• convulsions occur between 6 & 13 years of age
• myoclonus begins 1 to 5 years later
• twitchings occur predominantly in proximal muscles of the extremities & are bilaterally symmetrical, but asynchronous
• twitchings are small initially, but worsen late in the clinical course, may be so violent that the victim is thrown to the floor
• mental deterioration & eventually dementia develop

More general terms

• myoclonic epilepsy

Database

• OMIM: https://mirror.omim.org/entry/254800