Epilepsy in Duchenne and Becker muscular dystrophies
Por:
Armijo JA, Fernandez-Garcia, MA, Camacho, A, Liz, M, Ortez-Gonzalez CI, Lafuente-Hidalgo, M, Laguna, LTBD, Estévez-Arias B, Carrera-García L, Exposito-Escudero JM, Domínguez-Carral J, Nascimento-Osorio A and Natera-de Benito D
Publicada:
1 jun 2024
Ahead of Print:
1 may 2024
Resumen:
ObjectiveDuchenne and Becker muscular dystrophies (DMD and BMD) are dystrophinopathies caused by variants in DMD gene, resulting in reduced or absent dystrophin. These conditions, characterized by muscle weakness, also manifest central nervous system (CNS) comorbidities due to dystrophin expression in the CNS. Prior studies have indicated a higher prevalence of epilepsy in individuals with dystrophinopathy compared to the general population. Our research aimed to investigate epilepsy prevalence in dystrophinopathies and characterize associated electroencephalograms (EEGs) and seizures.MethodsWe reviewed 416 individuals with dystrophinopathy, followed up at three centers between 2010 and 2023, to investigate the lifetime epilepsy prevalence and characterize EEGs and seizures in those individuals diagnosed with epilepsy. Associations between epilepsy and type of dystrophinopathy, genotype, and cognitive involvement were studied.ResultsOur study revealed a higher epilepsy prevalence than the general population (1.4%; 95% confidence interval: 0.7-3.2%), but notably lower than previously reported in smaller dystrophinopathy cohorts. No significant differences were found in epilepsy prevalence between DMD and BMD or based on underlying genotypes. Cognitive impairment was not found to be linked to higher epilepsy rates. The most prevalent epilepsy types in dystrophinopathies resembled those observed in the broader pediatric population, with most individuals effectively controlled through monotherapy.InterpretationThe actual epilepsy prevalence in dystrophinopathies may be markedly lower than previously estimated, possibly half or even less. Our study provides valuable insights into the epilepsy landscape in individuals with dystrophinopathy, impacting medical care, especially for those with concurrent epilepsy.
Filiaciones:
Armijo JA:
Hosp St Joan Deu, Dept Neurol, Neuromuscular Unit, Barcelona, Spain
Fernandez-Garcia, MA:
Hosp La Paz, Neuromuscular Unit, Madrid, Spain
Camacho, A:
Univ Complutense Madrid, Hosp Univ Octubre 12, Dept Neurol, Div Pediat Neurol, Madrid, Spain
Liz, M:
Hosp St Joan Deu, Dept Neurol, Epilepsy Unit, Barcelona, Spain
Ortez-Gonzalez CI:
Hosp St Joan Deu, Dept Neurol, Neuromuscular Unit, Barcelona, Spain
Inst Recerca St Joan Deu, Appl Res Neuromuscular Dis, Barcelona, Spain
Ctr Biomed Res Network Rare Dis CIBERER, ISCIII, Madrid, Spain
Lafuente-Hidalgo, M:
Hosp Miguel Servet, Dept Pediat, Zaragoza, Spain
Laguna, LTBD:
Hosp Maternoinfantil, Dept Pediat, Las Palmas Gran Canaria, Spain
Estévez-Arias B:
Hosp St Joan Deu, Dept Neurol, Neuromuscular Unit, Barcelona, Spain
Inst Recerca St Joan Deu, Lab Neurogenet & Mol Med IPER, Barcelona, Spain
Carrera-García L:
Hosp St Joan Deu, Dept Neurol, Neuromuscular Unit, Barcelona, Spain
Inst Recerca St Joan Deu, Appl Res Neuromuscular Dis, Barcelona, Spain
Exposito-Escudero JM:
Hosp St Joan Deu, Dept Neurol, Neuromuscular Unit, Barcelona, Spain
Inst Recerca St Joan Deu, Appl Res Neuromuscular Dis, Barcelona, Spain
Domínguez-Carral J:
Hosp St Joan Deu, Dept Neurol, Epilepsy Unit, Barcelona, Spain
Nascimento-Osorio A:
Hosp St Joan Deu, Dept Neurol, Neuromuscular Unit, Barcelona, Spain
Inst Recerca St Joan Deu, Appl Res Neuromuscular Dis, Barcelona, Spain
Ctr Biomed Res Network Rare Dis CIBERER, ISCIII, Madrid, Spain
Natera-de Benito D:
Hosp St Joan Deu, Dept Neurol, Neuromuscular Unit, Barcelona, Spain
Inst Recerca St Joan Deu, Appl Res Neuromuscular Dis, Barcelona, Spain
Hosp St Joan Deu, Neuromuscular Unit, Passeig St Joan Deu 2, Esplugas de Llobregat, Barcelona, Spain
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