Molecular Genetic Studies

The application of molecular genetic techniques has resulted in enormous gains in our understand­ing of the molecular and pathophysiologic basis of many neuromuscular diseases. In addition, molecu­lar genetic studies now aid in the diagnostic evalua­tion of the dystrophin-deficient muscular dystrophies (DMD, BMD), myotonic muscular dystrophy, predom­inantly proximal autosomal-recessive spinal muscular atrophy, Charcot-Marie-Tooth neuropathy (hereditary motor and sensory neuropathy), and a host of other neuromuscular disease conditions. The clinical appli­cation of molecular genetic studies is described in the following sections on specific neuromuscular disease conditions.