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Congenital muscular dystrophies



Congenital muscular dystrophies (CMDs) are a group of inherited rare neuromuscular diseases. The congenital muscular dystrophies as a group encompass great clinical and genetic heterogeneity (diversity) so that achieving an accurate genetic diagnosis has become increasingly challenging, even in the age of next-generation sequencing. The incidence and prevalence of CMD in various populations is not sufficiently known. The relative frequency of individual types also varies in different populations.

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This resource provides a general introduction to the condition, along with the causes, symptoms and prognosis. There is also a section linking to existing resources for psycho-social support.