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Case Reports
. 2023 Feb 22:10:2329048X231159484.
doi: 10.1177/2329048X231159484. eCollection 2023 Jan-Dec.

Epilepsy Characteristics in Duchenne and Becker Muscular Dystrophies

Praveen Kumar Ramani  1 , Kindann Fawcett  1 , Debra Guntrum  2 , Hallie Samuel  1 , Emma Ciafaloni  2 , Aravindhan Veerapandiyan  1
Affiliations
Case Reports

Epilepsy Characteristics in Duchenne and Becker Muscular Dystrophies

Praveen Kumar Ramani et al. Child Neurol Open. .

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.

Keywords: Duchenne muscular dystrophy; EEG; epilepsy.

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Conflict of interest statement

The author(s) declared the following potential conflicts of interest with respect to the research, authorship, and/or publication of this article: AV has received compensation for ad-hoc advisory boards/consulting activity with Biogen, Novartis, AveXis, Sarepta therapeutics, PTC therapeutics, Scholar Rock, Fibrogen, AMO pharma, Pfizer, Muscular Dystrophy Association, Parent Project Muscular Dystrophy, and France Foundation outside of the submitted work. EC has received personal compensation for serving on advisory boards and/or as a consultant for Alexion, Argenx, Biogen, Amicus, Momenta, Medscape, Pfizer, PTC Therapeutics, Sanofi/Genzyme, Sarepta, Janssen, NS Pharma, Wave, and Strongbridge Biopharma. EC has received research and/or grant support from the Centers for Disease Control and Prevention, CureSMA, Muscular Dystrophy Association, National Institutes of Health, Orphazyme, the Patient-Centered Outcomes Research Institute, Parent Project Muscular Dystrophy, PTC Therapeutics, Santhera, Sarepta Therapeutics, Orphazyme, and the US Food and Drug Administration. EC has received royalties from Oxford University Press and compensation from Medlink for editorial duties. Other authors report no relevant disclosures.

References

    1. Darras BT, Urion DK, Ghosh PS. Dystrophinopathies. In: Adam MP, Everman DB, Mirzaa GM, et al. eds. (R). GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993. 2000 Sep 5 [updated 2022 Jan 20].2022
    1. Harada Y, Sorensen ST, Aravindhan A, Stefans V, Veerapandiyan A. Dystrophinopathy in a family due to a rare nonsense mutation causing predominant behavioral phenotype. J Pediatr Neurol. 2020;18:210‐214.
    1. Saylam E, Aravindhan A, Stefans V, Veerapandiyan A. Pseudometabolic presentation of dystrophinopathy in a family due to a rare nonsense mutation. J Clin Neuromuscul Dis. 2020;21:245‐246. - PubMed
    1. Hendriksen RGF, Vles JSH, Aalbers MW, Chin RFM, Hendriksen JGM. Brain-related comorbidities in boys and men with Duchenne muscular dystrophy: a descriptive study. Eur J Paediatr Neurol. 2018;22:488‐497. - PubMed
    1. Pane M, Lombardo ME, Alfieri P, et al. Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation. J Pediatr. 2012;161:705–709 e701. - PubMed

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