objective neuromuscular disorders (diseases of the motor unit), can cause respiratory problems such as impaired cough reflex, chest deformity, recurrent pneumonia and acute respiratory failure; these are the worst most common complications of these diseases and the leading cause of death in such patients (1, 2). their management hence, very often, entails admission to the pediatric intensive ca...

charcot-marie-tooth (cmt) diseases represent a heterogeneous genetic disorder with more than 80 genes implicated, however sharing a similar phenotype. in recent years, advances in molecular genetics and molecular biology, and also the development of various animal models of cmt, have led to a better understanding. this knowledge represents a prerequisite for the development of future therapies ...

neuromuscular disorders (nmds) include a broad range of diseases affecting muscles, nerves and neuromuscular junctions. approximately 761 different disorders occur in this group which is subdivided into 16 different subgroups with 406 known genes. nmds are genetically and clinically heterogeneous conditions. the advent of next generation sequencing (ngs) approaches has accelerated the pace of d...

Disorders of the neuromuscular unit can result in clinical presentations that range from subtle symptoms to acute respiratory failure with significant morbidity and mortality. In most cases, the pathophysiologic mechanism of these disorders is well understood and permits an organization and understanding based on the level of the nervous system affected. This facilitates an approach that interp...