Congenital muscular dystrophy

Definition

A rare clinically and genetically heterogeneous group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness, delayed motor milestones and joint contractures. Feeding difficulty, orthopedic and respiratory complications, that may be life-threatening, often develop in the course of the disease. Intellectual disability, structural brain abnormalities, ocular abnormalities (such as optic atrophy, retinal changes), seizures and cardiomyopathy are also reported to be associated with different disorders belonging to this group. The histologic pattern of muscle anomalies is typical of dystrophic lesions but quite variable depending on the different stages and on the severity of the disorder.