Prenatal diagnosis of congenital myopathies and muscular dystrophies

Abstract

Congenital myopathies and muscular dystrophies constitute a genetically and phenotypically heterogeneous group of rare inherited diseases characterized by muscle weakness and atrophy, motor delay and respiratory insufficiency. To date, curative care is not available for these diseases, which may severely affect both life-span and quality of life. We discuss prenatal diagnosis and genetic counseling for families at risk, as well as diagnostic possibilities in sporadic cases.

Keywords: Duchenne and Becker muscular dystrophy; Emery-Dreifuss muscular dystrophy; facioscapulohumeral muscular dystrophy; limb-girdle muscular dystrophy; myotonic dystrophy; myotubular myopathy; nemaline myopathy.