Genetic Testing in Neuromuscular Diseases

A large proportion of neuromuscular diseases have a genetic basis, often due to monogenic (Mendelian) mutations. Given the remarkable clinical and molecular heterogeneity of many neuromuscular diseases, conventional genetic testing such as Sanger sequencing has been largely unsuccessful in the past. The introduction of next-generation sequencing has substantially improved the success rate of genetic testing by identifying the causative genetic defect in approximately 30% of patients with neuromuscular diseases.