The Saga of Congenital Muscular Dystrophy

Abstract

The first credible descriptions of congenital muscular dystrophy (CMD) were made at the beginning of this century but the individuality of this condition had difficulty to be accepted because its distinction from other types of childhood neuromuscular disorders was far from clear. The reports of different clinico-pathological phenotypes of CMD and recently of immunocytochemical and molecular genetic studies allowed the precise definition of specific entities within the group of CMD. Here we present the historical background of CMD, its vicissitudes and the main steps leading to the individualisation of the merosin-deficient CMD to which the author has contributed. Mention is also made to major achievements in the characterisation of other types of CMD, namely the Fukuyama CMD, the muscle-eye-brain disease and a peculiar form of CMD with the rigidity of the spine. Animal models of merosin-deficient congenital muscular dystrophy were identified and their current study may lead to a better understanding of the pathogenesis of the human disease and to therapeutic strategies.

Key words

Congenital muscular dystrophy - Merosin - Laminin α2-chain; LAMA2 gene.