Neuromuscular diseases

Abstract

This chapter describes clinical manifestations, pathology, and the molecular diagnosis of selected neuromuscular disorders which are commonly tested for in the molecular pathology laboratory. Neuromuscular function can be impaired as a result of defects in the nervous system, muscle, or both. The disorders described are all heritable. However the disorders have different patterns of inheritance and are caused by different types of mutations. The molecular assay utilized is determined by the type of mutation to be identified. The molecular testing allows for more accurate diagnostic, carrier, predictive, and prenatal testing. The clinical utility, interpretation, and laboratory issues will be described for each disorder.