Epilepsy Characteristics in Duchenne and Becker Muscular Dystrophies

Area of Science:

• Neurology
• Genetics
• Pediatrics

Background:

• Dystrophinopathies are X-linked muscle disorders caused by pathogenic variants in the DMD gene, encompassing Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD).
• Neuropsychiatric manifestations, including epilepsy, affect approximately one-third of individuals with dystrophinopathies.

Observation:

• This study retrospectively reviewed eight male patients with dystrophinopathy and epilepsy from two medical centers.
• Six patients had DMD, and two had BMD. Five presented with generalized epilepsy, and three with focal epilepsy, two of which were intractable.
• Brain imaging was normal in five patients, and EEG abnormalities were observed in six patients.

Findings:

• Epilepsy is a notable neuropsychiatric manifestation in boys with dystrophinopathies.
• Seizure types included generalized and focal epilepsy, with some cases being intractable.
• EEG abnormalities were common, but brain imaging did not reveal structural abnormalities in the observed cases.

Implications:

• Epilepsy management in dystrophinopathy patients appears feasible with current antiepileptic drugs.
• Further research is essential to understand the mechanisms and genotype-phenotype correlations of epilepsy in dystrophinopathies.
• This study highlights the importance of considering epilepsy in the comprehensive care of patients with DMD and BMD.