Congenital muscular dystrophies

Abstract

The number of new syndromes, loci, and genes responsible for CMD forms has dramatically increased in the last few years, and it has become increasingly evident that the classification of the different forms of CMD is a difficult task. A recent classification separated the forms of CMD that have been mapped (CMD diseases) from the ones with clearly defined clinical and pathologic features that have not been mapped yet (CMD syndromes). Eight CMD forms have been mapped up to now, and the genes responsible for three of them have been identified. This review describes an update of clinical, pathologic, and genetic findings in the different CMD forms.