Congenital muscular dystrophies.

Distrofias Musculares Congénitas (DMC)

Congenital muscular dystrophies constitute a genetically heterogeneous group of inherited myopathies characterized by progressive muscle weakness and dystrophic findings on muscle biopsy present from birth or early childhood.

Main Classification

• Merosine Deficiency (LAMA2-RD): Caused by mutations in the LAMA2 gene. It presents with marked hypotonia and motor delay.
• Type VI collagenopathies: Ullrich congenital muscular dystrophy and Bethlem myopathy, characterized by distal hypermobility and proximal contractures.
• Dystroglycanopathies: Defects in the glycosylation of alpha-dystroglycan. They frequently associate brain malformations (such as Walker-Warburg syndrome or muscle-eye-brain disease) and ocular involvement.