Long-term prognosis of epilepsies and related seizure disorders in fukuyama-type congenital muscular dystrophy

Fukuyama-type congenital muscular dystrophy is an autosomal recessive disorder prevalent in Japan that is characterized by congenital muscular dystrophy, cobblestone lissencephaly, and eye anomalies. We examined 46 patients with Fukuyama-type congenital muscular dystrophy and followed their progress for more than 3 years, with special reference to long-term prognosis of seizure disorders and the relationship between seizures and neuropathologic abnormalities. Seizures were observed in 37 patients (80%). The average age at onset was 3 years, 1 month. Initial seizures usually occurred after a febrile episode, although one third of patients had afebrile seizures from the onset. All patients had generalized tonic-clonic convulsions at febrile disorders, and these were followed by complex partial seizures or secondary generalized seizures. Later these seizures developed into Lennox-Gastaut syndrome in three patients. Electroencephalography (EEG) showed paroxysmal discharges in 22 of 37 patients with seizures (...