Central nervous system involvement and the genotype-phenotype correlation in CMD-LAMA2

Background: Patients with LAMA2-congenital muscular dystrophy (CMD) usually present with a severe phenotype characterized by inability to achieve walking capacity, multiple joint deformities, and respiratory insufficiency. However, there is a gravity spectrum, and some patients can walk unassisted. Characteristically, the patients have white matter changes in T2-WI and FLAIR in brain magnetic resonance. More rarely, cortical changes like polymicrogyria in the temporo-occipital regions can be observed and some of these patients can manifest epilepsy and intellectual disabilities.