The prevalence of epilepsy is higher in people with Duchenne and Becker muscular dystrophies than in the general population, a new systematic review of the literature and meta-analysis published in the Journal of Neurology found.

According to the authors of the study, this is likely due to alterations in the full-length isoform of the dystrophin protein Dp427 expressed in the brain. The study found no association between the prevalence of epilepsy and the site of mutation in the DMD gene.

It was already known that alterations in dystrophin protein in the brain are associated with a higher risk of epilepsy in these 2 types of muscular dystrophy.


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Here, a team of researchers led by Iván Cavero-Redondo, PhD, from the Health and Social Research Center, Universidad de Castilla-La Mancha in Cuenca, Spain aimed to estimate the prevalence of epilepsy in patients with Becker and Duchenne muscular dystrophies. They also assessed whether there was an association between the mutation site in the DMD gene and epilepsy risk.

The researchers identified 8 relevant studies involving participants with Becker and Duchenne muscular dystrophies that estimated the prevalence of epilepsy and were published before January 2022.

They found that the prevalence of epilepsy was 7% in patients with Becker muscular dystrophy, 5% in patients with Duchenne muscular dystrophy, and 5% in the overall estimate.

There was no association between the site of mutation and epilepsy prevalence. “The current evidence does not support the hypothesis that Dp140 or Dp71 affect epilepsy risk,” the researchers wrote. Dp140 and Dp71 are the short isoforms of the dystrophin protein expressed in the brain.

The authors stated that more research is needed to assess whether there is an association between epilepsy and other neurological disorders like autism and attention-deficit/hyperactivity disorder (ADHD) in patients with Duchenne and Becker muscular dystrophies.

They also stressed the importance of exercising caution when prescribing anticonvulsants to these patients since they can affect bone quality.

Reference

Pascual-Morena C, Martínez-Vizcaíno V, Saz-Lara A, López-Gil JF, Fernández-Bravo-Rodrigo J, Cavero-Redondo I. Epileptic disorders in Becker and Duchenne muscular dystrophies: a systematic review and meta-analysis. J Neurol. Published online March 1, 2022. doi:10.1007/s00415-022-11040-y