Epilepsy in LAMA2‐related muscular dystrophy: An electro‐clinico‐radiological characterization

Abstract

Objective: To delineate the epileptic phenotype of LAMA2-related muscular dystrophy (MD) and correlate it with the neuroradiological and muscle biopsy findings, as well as the functional motor phenotype. Methods: Clinical, electrophysiological, neuroradiological, and histopathological data of 25 patients with diagnosis of LAMA2-related MD were analyzed. Results: Epilepsy occurred in 36% of patients with LAMA2-related MD. Mean age at first seizure was 8 years. The most common presenting seizure type was focalonset seizures with or without impaired awareness. Visual aura and autonomic signs, including vomiting, were frequently reported. Despite a certain degree of variability, bilateral occipital or temporo-occipital epileptiform abnormalities were by far the most commonly observed. Refractory epilepsy was found in 75% of these patients. |NATERA-DE BENITO ET Al.

LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort

“…While seizures have been reported in up to 30% of LAMA2‐RD patients older than six years regardless of LAMA2 expression on muscle biopsy, 46,47 seizures were not common in this cohort of CD patients and absent in PD subjects. Also, no correlation between structural brain changes, epilepsy or learning difficulties were noted in our cohort.…”

“…However, as previously indicated, regular cardiac monitoring is recommended from diagnosis and in particular after the third decade, when more severe cardiac abnormalities and sudden death have been more often described. 9,[40][41][42][43][44][45] While seizures have been reported in up to 30% of LAMA2-RD patients older than six years regardless of LAMA2 expression on muscle biopsy, 46,47 seizures were not common in this cohort of CD patients and absent in PD subjects. Also, no correlation between structural brain changes, epilepsy or learning difficulties were noted in our cohort.…”

Brain Dysfunction in LAMA2-Related Congenital Muscular Dystrophy: Lessons From Human Case Reports and Mouse Models

“…Epilepsy frequently affects patients with MDC1A and a more recent study found that 9 out of 25 MDC1A patients had epilepsy with a mean age onset of first seizure at 8 years of age (Natera-de Benito et al, 2020 ). MRI studies of 19 patients revealed that all had white matter abnormalities and that polymicrogyria was found in all epilepsy patients (Natera-de Benito et al, 2020 ).…”

“…Epilepsy frequently affects patients with MDC1A and a more recent study found that 9 out of 25 MDC1A patients had epilepsy with a mean age onset of first seizure at 8 years of age (Natera-de Benito et al, 2020 ). MRI studies of 19 patients revealed that all had white matter abnormalities and that polymicrogyria was found in all epilepsy patients (Natera-de Benito et al, 2020 ). Although MDC1A-related white matter changes are typically seen in patients of at least 6 months of age, this study revealed that four patients under 6 months of age already had white matter changes, including two in the perinatal period (Natera-de Benito et al, 2020 ).…”

“…MRI studies of 19 patients revealed that all had white matter abnormalities and that polymicrogyria was found in all epilepsy patients (Natera-de Benito et al, 2020 ). Although MDC1A-related white matter changes are typically seen in patients of at least 6 months of age, this study revealed that four patients under 6 months of age already had white matter changes, including two in the perinatal period (Natera-de Benito et al, 2020 ).…”