Targeted Treatments for Inherited Neuromuscular Diseases of Childhood.

摘要: In the past decade, number of genes linked to neuromuscular diseases childhood has expanded dramatically, and this genetic information is forming basis for gene-specific even mutation-specific therapies. At forefront these advances are two recently approved treatments spinal muscular atrophy: one, an antisense oligonucleotide that modifies splicing SMN2 gene, and, other, a gene therapy vector delivers SMN1 motor neurons, both which allowing patients acquire developmental milestones previously unseen in fatal disease. This review highlights emerging targeted therapies Duchenne dystrophy centronuclear myopathy, while also covering enzyme replacement small molecule-based conditions such as Pompe's disease congenital myasthenic syndromes. With other newer techniques correction defects, CRISPR/Cas9, there now hope many more nervous system will follow near future.