Epilepsy in LAMA2-related muscular dystrophy: A systematic review of the literature
نویسندگان
چکیده
Epilepsy is a common, often severe, feature of LAMA2-related muscular dystrophy (LAMA2-RD) and could represent its onset main manifestation, even in the absence overt muscle involvement. To date, there no systematic characterization epilepsy LAMA2-RD, impact on neurodevelopment clinical course remains poorly established. In view this knowledge gap, we conducted review literature and, as an illustrative example, reported case boy with late-onset limb-girdle presenting severe epilepsy. Our analyses data revealed mean age at first seizure 8 years, significant differences between early- versus disease (5.78 ± 4.11 9.00 2.65 respectively; p = 0.0007), complete partial merosin deficiency (5.33 3.70 10.36 5.49 0.0176). A generalized was most common presentation, regardless expression levels or timing distrophy onset. Cortical malformations were not significantly associated earlier onset, found to be quasi-significantly greater incidence focal, focal generalized, seizures. No clear conclusions reached electrophysiological neurodevelopmental features disorder, relative efficacy anti-epileptic treatments; further research these aspects needed. This helps show that LAMA2-RD may more than ancillary manifestation disease, but rather one core features. targeted prompt electroencephalographic assessment, addition specific neuromuscular workup, therefore mandatory early management pursue best possible outcome for affected children.
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ژورنال
عنوان ژورنال: Seizure-european Journal of Epilepsy
سال: 2021
ISSN: ['1532-2688', '1059-1311']
DOI: https://doi.org/10.1016/j.seizure.2021.07.020