Is there a correlation between cerebral and muscular phenotypes in congenital muscular dystrophy linked to the LAMA2 gene?

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Brazilian clinicians have compiled clinical data and brain imaging results from patients with merosine deficiency (congenital muscular dystrophy linked to the LAMA2 gene) with a view to establishing potential correlations between muscle phenotype and brain damage:

  • fifty-two patients were included in the study, the vast majority of whom were non-ambulatory (85%),
  • 19% had significant malformations, 19% had epilepsy and 15% had an intellectual deficit,
  • the presence of cortical malformations was significantly correlated with the severity of the muscular phenotype.

In addition, the authors point to the existence of a highly probable genetic founder effect in this cohort.

 

Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy – a Genotype/Phenotype Correlation. Camelo CG, Artilheiro MC, Martins Moreno CA et al. J Neuromuscul Dis. 2023 May

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