Emphasized the diagnosis and therapy of curative neurogenetic diseases

Abstract

In recent years, great progress has been made in the treatment of neurogenetic diseases.Specific drugs have been used to treat diseases that were uncurable in the past, and there are noteworthy curative effects. For example, oral intake of PCT124 can improve the squatting and walking ability of children with Duchenne muscular dystrophy. Intrathecal injection of Nusinersen Sodium enables children with spinal muscular atrophy 2 to stand and walk. Meanwhile, specific treatment in the early stages of the disease should be emphasized. In addition, this paper put forward my views on the issues that need attention during the specific drug therapy, as well as the comprehensive treatment such as nutrition, nursing and rehabilitation after the therapy.

doi：10.3969/j.issn.1672⁃6731.2021.06.001