Epilepsy in Duchenne and Becker muscular dystrophies.
Duchenne and Becker muscular dystrophies are X-linked allelic disorders in which the association of central nervous system dysfunction, typically in the form of mental retardation, is a well recognized feature. They are both due to mutations in the dystrophin gene, whose corresponding protein products are expressed both in the muscle and central nervous system. We have observed an increased frequency of epilepsy in children with Duchenne and Becker muscular dystrophy attending our clinic. Out of 254 boys with this condition (201 Duchenne and 53 Becker), eight children, four in the Duchenne and four in the Becker group, had a confirmed diagnosis of epilepsy (cumulative incidence 3.14%, with a subgroup incidence of 1.99% in the Duchenne and 7.54% in the Becker group). Statistical analysis indicated that only the incidence of epilepsy in Becker muscular dystrophy was significant (p < 0.007). Our data suggests that epilepsy may be a rare associated feature in children with muscular dystrophy secondary to dystrophin deficiency.
Goodwin
F
F
Department of Paediatric and Neonatal Medicine, Hammersmith Hospital, London, UK.
Muntoni
F
F
Dubowitz
V
V
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D016189:Dystrophin / Q000172:deficiency / Q000235:genetics; D004829:Epilepsy, Generalized / Q000175:diagnosis / Q000235:genetics*; D004830:Epilepsy, Tonic-Clonic / Q000175:diagnosis / Q000235:genetics*; D005091:Exons; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype
D016189:Dystrophin