Overview Merosin-deficient congenital muscular dystrophy

Merosin-deficient congenital muscular dystrophy (MDC1A) is one of the subtypes of congenital muscular dystrophy (CMD).

The congenital muscular dystrophies (CMDs) are a group of conditions that share an early presentation and a similar appearance of the muscle. Congenital means ‘from birth,’ and in congenital muscular dystrophy, the initial symptoms are present at birth or in the first few months. The CMDs are a very varied group of conditions, and much effort has gone into defining different subtypes of congenital muscular dystrophy and to identifying genes responsible for these specific forms of CMD.