Epilepsy in Duchenne and Becker muscular dystrophies.
Journal
Annals of clinical and translational neurology
ISSN: 2328-9503
Titre abrégé: Ann Clin Transl Neurol
Pays: United States
ID NLM: 101623278
Informations de publication
Date de publication:
01 May 2024
01 May 2024
Historique:
revised:
14
03
2024
received:
09
02
2024
accepted:
21
03
2024
medline:
2
5
2024
pubmed:
2
5
2024
entrez:
2
5
2024
Statut:
aheadofprint
Résumé
Duchenne 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. We 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. Our 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. The 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.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Instituto de Salud Carlos III, Spain
ID : CP22/00141
Organisme : European Union
ID : CP22/00141
Informations de copyright
© 2024 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.
Références
Duan D, Goemans N, Takeda S, et al. Duchenne muscular dystrophy. Nat Rev Dis Primers. 2021;7(1):13. https://pubmed.ncbi.nlm.nih.gov/33602943/
Darras BT, Urion DK, Ghosh PS. Dystrophinopathies. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, eds. GeneReviews® [Internet]. University of Washington; 2022:1993‐2024.
Yaworski AM, McMillan HJ. Developmental delay and neuropsychiatric comorbidities associated with Duchenne and Becker muscular dystrophy. Muscle Nerve. 2020;61(2):127‐128. https://pubmed.ncbi.nlm.nih.gov/31811661/
Pascual‐Morena C, Cavero‐Redondo I, Reina‐Gutiérrez S, et al. Prevalence of Neuropsychiatric Disorders in Duchenne and Becker Muscular Dystrophies: A Systematic Review and Meta‐analysis. Arch Phys Med Rehabil. 2022;103(12):2444‐2453. https://pubmed.ncbi.nlm.nih.gov/35839922/
Ferrero A, Rossi M. Cognitive profile and neuropsychiatric disorders in Becker muscular dystrophy: a systematic review of literature. Neurosci Biobehav Rev. 2022;137:104648. https://pubmed.ncbi.nlm.nih.gov/35367224/
Pane M, Messina S, Bruno C, et al. Duchenne muscular dystrophy and epilepsy. Neuromuscul Disord. 2013;23(4):313‐315. https://pubmed.ncbi.nlm.nih.gov/23465656/
Pascual‐Morena C, Martínez‐Vizcaíno V, Saz‐Lara A, et al. Epileptic disorders in Becker and Duchenne muscular dystrophies: a systematic review and meta‐analysis. J Neurol. 2022;269(7):3461‐3469. https://pubmed.ncbi.nlm.nih.gov/35229191/
Ramani PK, Fawcett K, Guntrum D, Samuel H, Ciafaloni E, Veerapandiyan A. Epilepsy characteristics in Duchenne and Becker muscular dystrophies. Child Neurol Open. 2023;10:2329048X2311594. https://pubmed.ncbi.nlm.nih.gov/36844469/
Goodwin F, Muntoni F, Dubowitz V. Epilepsy in Duchenne and Becker muscular dystrophies. Eur J Paediatr Neurol. 1997;1(4):115‐119. https://pubmed.ncbi.nlm.nih.gov/10728205/
Takeshita E. Dystrophinopathy and seizure. Brain Nerve. 2016;68(2):128‐136. https://pubmed.ncbi.nlm.nih.gov/26873232/
Hendriksen RGF, Vles JSH, Aalbers MW, et al. Brain‐related comorbidities in boys and men with Duchenne muscular dystrophy: a descriptive study. Eur J Paediatr Neurol. 2018;22(3):488‐497. https://pubmed.ncbi.nlm.nih.gov/29306518/
Waldrop MA, Flanigan KM. Update in Duchenne and Becker muscular dystrophy. Curr Opin Neurol. 2019;32(5):722‐727. https://pubmed.ncbi.nlm.nih.gov/31343429/
Markati T, Oskoui M, Farrar MA, et al. Emerging therapies for Duchenne muscular dystrophy. Lancet Neurol. 2022;21(9):814‐829. http://www.thelancet.com/article/S1474442222001259/fulltext
Nuwer MR, Comi G, Emerson R, et al. IFCN standards for digital recording of clinical EEG. Electroencephalogr Clin Neurophysiol. 1998;106(3):259‐261.
Flink R, Pedersen B, Guekht AB, et al. Guidelines for the use of EEG methodology in the diagnosis of epilepsy. International league against epilepsy: commission report. commission on European affairs: subcommission on European guidelines. Acta Neurol Scand. 2002;106(1):1‐7. https://pubmed.ncbi.nlm.nih.gov/12067321/
Berg AT, Berkovic SF, Brodie MJ, et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE commission on classification and terminology, 2005–2009. Epilepsia. 2010;51(4):676‐685. https://pubmed.ncbi.nlm.nih.gov/20196795/
Fisher RS, Van Emde BW, Blume W, et al. Epileptic seizures and epilepsy: definitions proposed by the international league against epilepsy (ILAE) and the International Bureau for Epilepsy (IBE). Epilepsia. 2005;46(4):470‐472. https://pubmed.ncbi.nlm.nih.gov/15816939/
Brodie MJ, Barry SJE, Bamagous GA, et al. Patterns of treatment response in newly diagnosed epilepsy. Neurology. 2012;78(20):1548‐1554. https://pubmed.ncbi.nlm.nih.gov/22573629/
Chesshyre M, Ridout D, Hashimoto Y, et al. Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy. J Cachexia Sarcopenia Muscle. 2022;13(2):1360‐1372. doi:10.1002/jcsm.12914
Doorenweerd N, Straathof CS, Dumas EM, et al. Reduced cerebral gray matter and altered white matter in boys with Duchenne muscular dystrophy. Ann Neurol. 2014;76(3):403‐411. doi:10.1002/ana.24222
Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol. 2003;2(12):731‐740.
Specchio N, Wirrell EC, Scheffer IE, et al. International league against epilepsy classification and definition of epilepsy syndromes with onset in childhood: position paper by the ILAE task force on nosology and definitions. Epilepsia. 2022;63(6):1398‐1442. https://pubmed.ncbi.nlm.nih.gov/35503717/
Riney K, Bogacz A, Somerville E, et al. International league against epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE task force on nosology and definitions. Epilepsia. 2022;63(6):1443‐1474. doi:10.1111/epi.17240
Hirsch E, French J, Scheffer IE, et al. ILAE definition of the idiopathic generalized epilepsy syndromes: position statement by the ILAE task force on nosology and definitions. Epilepsia. 2022;63(6):1475‐1499. doi:10.1111/epi.17236
Fiest KM, Sauro KM, Wiebe S, et al. Prevalence and incidence of epilepsy. Neurology. 2017;88(3):296‐303. https://n.neurology.org/content/88/3/296
Cowan LD, Bodensteiner JB, Leviton A, Doherty L. Prevalence of the epilepsies in children and adolescents. Epilepsia. 1989;30(1):94‐106. doi:10.1111/j.1528‐1157.1989.tb05289.x
Taylor PJ, Betts GA, Maroulis S, et al. Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy. PLoS One. 2010;5(1):e8803. doi:10.1371/journal.pone.0008803
Felisari G, Boneschi FM, Bardoni A, et al. Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy. Neurology. 2000;55(4):559‐564. https://n.neurology.org/content/55/4/559
Ricotti V, Mandy WPL, Scoto M, et al. Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations. Dev Med Child Neurol. 2016;58(1):77‐84. doi:10.1111/dmcn.12922
Daoud F, Angeard N, Demerre B, et al. Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression. Hum Mol Genet. 2009;18(20):3779‐3794. doi:10.1093/hmg/ddp320