Congenital Muscular Dystrophies and Cognitive Impairment

Abstract

Reserchers at the Department of Paediatric Neurology, Catholic University, Rome and other Italian centers specializing in neuromuscular disease studied the prevalence of congenital muscular dystrophy (CMD) in the Italian population, and the frequency of individual genetically defined forms, including de novo phenotypes.

Keywords

• congenital muscular dystrophy
• cerebellar hypoplasia
• walker-walburg syndrome