关键词: 脊髓性肌萎缩症, 精准医学, 疾病修正治疗, 多学科团队

Abstract:

Spinal muscular atrophy (SMA) is an autosomal recessive genetic neuromuscular disease, which is caused by the lack of SMN protein due to the deletion/variation of the survival motor neuron gene (SMN) 1 gene. Its clinical manifestations are progressive muscular atrophy and muscle weakness, often accompanied by damage to multiple system organs such as respiration, digestion, nutrition and orthopedics, etc., and it is a serious fatal and disabling genetic disease. In 2018, SMA was included in the National List of the First Batch of Rare Diseases. The development of precision medicine has witnessed unprecedented progress in the treatment of SMA, and China has also had two disease-modifying treatment drugs used in clinical practice. In recent years, domestic and foreign diagnosis and treatment consensuses have put forward new norms for the standardized care of SMA, with particular emphasis on the entire course of disease management based on the collaboration diagnosis and treatment of multi-disciplinary team. The new advances in precise diagnosis and treatment and individualized management of SMA in the era of drug therapy will bring better prospects for the development of SMA in China.

Key words: spinal muscular atrophy, precision medicine, disease modifying therapy, multi-disciplinary team