Congenital muscular dystrophy

What it is

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.

Key facts

Prevalence

1-9 / 100 000 (Europe)

Age of onset

Infancy, Neonatal

Inheritance

Autosomal dominant, Autosomal recessive

Classified as

Category

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Genes reported in subtypes

Orphanet records these genes on 10 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references