Neuromuscular diseases (NMDs) are phenotypically diverse and genetically heterogeneous diseases that affect anterior horn cells of spinal cord, neuromuscular junction, peripheral nerves, and muscles. To date, more than 400 genes have been reported to cause NMDs. As a group, the combined NMD prevalence is greater than 1 in 3,000.
　　The majority of NMDs, which manifested as muscle weakness and atrophy, and motor delay since infancy, childhood and adolescence, are inherited, degenerative, and rare. An early definitive molecular diagnosis is crucial for genetic counseling, therapeutic strategies, and long-term prognosis and care plans. Until recently several studies have highlighted the advantage in using the next-generation sequencing (NGS) as a first-line tool for genetic evaluation of patients with a clinical phenotype suggestive of NMD, with muscle biopsy reserved as a second-tier investigation. To date, researchers have identified different therapeutic approaches that show promise in treating spinal muscular atrophy (SMA), Duchenne muscular dystrophy (DMD), congenital myasthenic syndromes (CMS), multiple acyl-CoA dehydrogenase deficiency (MADD), acid maltase deficiency (Pompe disease), carnitine deficiency, systemic primary (CDSP), and carnitine palmitoyltransferase II deficiency, late-onset (Myopathy due to CPT II deficiency) from childhood NMDs.