Epilepsy Characteristics in Duchenne and Becker Muscular Dystrophies

Abstract

Dystrophinopathies cover a spectrum of X-linked muscle disorders including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and cardiomyopathy due to pathogenic variants in the DMD gene. Neuropsychiatric manifestations occur approximately in one-third of patients with dystrophinopathy. Epilepsy has been described. Here we report seizure and electroencephalographic features of boys with dystrophinopathy and epilepsy. This is a retrospective chart review of eight patients with dystrophinopathy and epilepsy seen at Arkansas Children's Hospital and University of Rochester Medical center. Six patients had DMD and two had BMD. Five patients had generalized epilepsy. Three patients had focal epilepsy and the seizures were intractable in two of them. Brain imaging was available for five patients and were within normal limits. EEG abnormalities were noted in six patients. Seizures were well controlled on the current antiepileptic medication regimen in all patients. Further research is needed to better elucidate the underlying mechanisms and genotype-phenotype correlations.

Epilepsy in Duchenne and Becker muscular dystrophies

“…Despite the importance of understanding the prevalence of epilepsy among individuals with dystrophinopathy, only a limited number of studies have looked at this in detail and even fewer have explored its clinical and electroencephalographic features. 6 , 7 , 8 , 9 , 10 , 11 In an effort to address this gap, our study analyzed a cohort of 416 individuals diagnosed with dystrophinopathy.…”

“…Despite the clinical significance of epilepsy in dystrophinopathies, the prevalence and characteristics of epilepsy in this population have not been thoroughly studied, resulting in varying estimates in existing literature (ranging from 3.1% to 7.9%). [6][7][8][9][10][11] With increasing interest in therapies aiming to improve motor outcomes in individuals with dystrophinopathies, it becomes also relevant to explore the impact of extramuscular involvement, as it is not expected to be amenable to modification through these emerging therapeutic approaches. 12,13 In light of this knowledge gap, our study aims to investigate the lifetime prevalence, onset, and evolution of epilepsy in a cohort of 416 individuals with dystrophinopathy, closely followed over an extended period.…”