Specific Muscular Dystrophy Mutational Sites Not Associated With Epilepsy Risk

point mutation
point mutation
In a systematic review and meta-analysis, researchers evaluated the evidence of a relationship between muscular dystrophy mutational sites and epilepsy risk.

No evidence was found to support an association between Dp140 or Dp71 mutational sites with epilepsy risk among patients with muscular dystrophies, according to study findings published in the Journal of Neurology.

Patients with Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD) are at risk for developing neuropsychiatric and neurological disorders, including epilepsy. Several mutational sites associated with the muscular dystrophies are expressed in the brain and may be causal links between the conditions.

In order to evaluate any evidence of a relationship between muscular dystrophy mutational sites with epilepsy risk, researchers at the University de Castilla-La Mancha in Spain searched publication databases through January 2022 for studies of BMD and/or DMD with seizure risk. A total of 8 studies met the inclusion criteria. The studies investigated BMD (n=3), DMD (n=5) and both muscular dystrophies (n=2) among a total of 1536 participants.

The prevalence of epilepsy ranged between 0.07-0.08 among the BMD cohort and 0.02-0.13 among the DMD cohort. The pooled prevalence of epilepsy was 0.07 (95% CI, 0.03-0.11) for BMD, 0.05 (95% CI, 0.02-0.08) for DMD, and 0.03 (95% CI, 0.02-0.05) for BMD+DMD. No significant differences were observed between groups. Among the 3 studies which tested for specific genotypes, the prevalence of seizure was 0.48 for Dp140 and 0.46 for Dp71 in BMD and 1.07 for Dp71 in DMD.

For comparisons in which a heterogeneity assessment was possible, the researchers reported significant heterogeneity between studies. In addition, this study was limited as only 3 of the 8 studies specifically tested for Dp140 and Dp71 genotypes.

The study authors concluded, “BMD and DMD are disorders strongly associated with a higher prevalence of epilepsy compared to the general population, with a prevalence of 5%–7%, although some authors suggest that it could be somewhat higher. However, genotype was not clearly associated with epilepsy risk, although further studies are needed because of the detrimental trend observed for patients with Dp140 and because of the notional risk of Dp71.”


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