遗传性痉挛性截瘫临床诊疗的研究进展

Advances in the Clinical Diagnosis and Treatment of Hereditary Spastic Paraplegia

摘要: 遗传性痉挛截瘫是一组累及皮质脊髓束的神经退行性疾病，具有高度临床及基因异质性，主要临床表现为双下肢痉挛及相关运动障碍，可合并周围神经障碍，智力语言障碍及癫痫等神经功能障碍表现。其发病机制复杂，遗传方式多样，早期诊断困难，目前无特效治疗方案且系慢性退行性病程，常合并骨关节、消化道等功能障碍，治疗效果不佳。本文主要对HSP临床诊断及鉴别诊断、分型和治疗进展进行阐述，以利于该病的早期诊断及规范长程、多学科诊疗管理。

Abstract: Objective: Hereditary spastic paraplegia is a group of neurodegenerative diseases involving the cor-ticospinal tract, with a high degree of clinical and genetic heterogeneity. The main clinical manifes-tations are spasticity of both lower extremities and movement disorders, which may be combined with peripheral nerve dysfunction, intellectual and language impairment and other neurological dysfunctions. Its pathogenesis is complicated and genetic patterns are diverse, thus early diagnosis is difficult. The specific therapeutic regimen is deficient and the therapeutic effect is dissatisfied, moreover due to that the disease is chronic degenerative course, and often combined with bone joints, digestive tract and other functional disorders. This article mainly expounds on the clinical diagnosis, differential diagnosis, classification and treatment progress of HSP to facilitate the early diagnosis of the disease and standardize long-term, multidisciplinary diagnosis and treatment management.