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.
