
Duchenne Muscular Dystrophy (DMD) is the most frequent muscular dystrophy in childhood, with a worldwide incidence of one in 5000 live male births. It is due to mutations in the dystrophin gene leading to absence of full-length dystrophin protein. Central nervous system involvement is well-known in Duchenne Muscular Dystrophy. The multiple dystrophin isoforms expressed in brain have important roles in cerebral development and functioning. The association of Duchenne Muscular Dystrophy with seizures has been reported, and there is a higher prevalence of epilepsy in Duchenne Muscular Dystrophy patients (between 6.3% and 12.3%) than in the general pediatric population (0.5-1%). Duchenne Muscular Dystrophy patients may present with focal seizures, generalized tonic-clonic seizures or absences. We report on two boys in whom Duchenne Muscular Dystrophy is associated with epileptic spasms and hypsarrhythmia that fulfil the criteria for West syndrome, thus extending the spectrum of seizure types described in Duchenne Muscular Dystrophy patients.
Duchenne muscular dystrophy, Central Nervous System, Male, Epilepsy, Pédiatrie, Infant, West syndrome, Pediatrics, Sciences de la santé humaine, Dystrophin, Muscular Dystrophy, Duchenne, Neurology, Seizures, Neurologie, Child, Preschool, Mutation, Humans, Protein Isoforms, Human health sciences, Spasms, Infantile
Duchenne muscular dystrophy, Central Nervous System, Male, Epilepsy, Pédiatrie, Infant, West syndrome, Pediatrics, Sciences de la santé humaine, Dystrophin, Muscular Dystrophy, Duchenne, Neurology, Seizures, Neurologie, Child, Preschool, Mutation, Humans, Protein Isoforms, Human health sciences, Spasms, Infantile
| selected citations These citations are derived from selected sources. This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically). | 6 | |
| popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network. | Top 10% | |
| influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically). | Average | |
| impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network. | Average |
