Neurológia pre prax 1/2022

Congenital muscular dystrophies

From a historical definition, congenital muscular dystrophies are a heterogenous group of muscle disorders characterized by early-onset muscle disease with histopathological evidence of a dystrophic process. Recent progress of molecular genetics has changed the perspective of the entire group. Continuous deciphering of the genetic background and increasing number of genetically confirmed cases highlights a significant genetic and clinical heterogenicity and makes former clinico-histopathological classifications less useful. It also blurs the classification barriers between congenital muscular dystrophies, limb girdle muscular dystrophies and congenital myopathies groups as they share and overlap at clinical, morphological and genetic level. This text provides a brief summary of the current knowledge accompanied by clinical vignettes from the clinical practice.

Keywords: congenital muscular dystrophy, primary merosin deficiency, collagen VI – related dystrophies, dystroglycanopathies