S.P.57 Duchenne muscular dystrophy and epilepsy

Abstract The aim of this study was to establish a possible present or past history of epilepsy in patients affected by Duchenne muscular dystrophy (DMD). We also performed EEG in all the boys in whom there were episodes described as ‘staring episodes', tremors, or other abnormal movements suggestive of seizures. We report the data obtained in 217 DMD patients with proven mutations from three tertiary neuromuscular centers in Italy. Age at onset of seizures, type of seizures, family history, treatment, EEG, brain MRI (if available) were recorded. Associated cognitive and neurobehavioural disorders were also noted. Epileptic seizures were found in 14 of the 217 DMD patients (6.4%). The age of onset ranged from 3months to 17years and in approximately half of the cases the first seizure was reported after the age of 10. In two cases seizure were not reported by the families but, when interviewed, they reported episodes of ‘lack of contact'. The prevalence of epilepsy in DMD was therefore higher than in the general pediatric population, where is reported to be between 0.5% and 1%. The presence of cognitive impairment did not appear to increase the risk of epilepsy and although seizures were more frequent in the subgroup of patients with mutations between exons 44 and 54, there was not a clear correlation with site of mutations as observed for cognitive impairment.