遗传性痉挛性截瘫

定义

遗传性痉挛性截瘫（HSP）包括一组遗传性和和临床异质性的神经退行性疾病，以不同程度的下肢痉挛、锥体无力、反射亢进和高张性膀胱为特征。临床上，根据是否存在共济失调、周围神经病变、认知障碍、癫痫、肌萎缩、视网膜病变、耳聋、鱼鳞病和锥体外系受累等神经系统特征，HSPs可分为两大类：单纯型和复杂型，除了痉挛性截瘫。单纯型HSP以缓慢进行性下肢痉挛和无力为特征，常伴有高渗性尿失调症，下肢振动感轻度减弱，偶尔也有关节位置感觉减弱。 复杂型HSP形式的特点是存在额外的神经或非神经特征。阳性家族史，尤其是常染色体显性遗传病例，通常但并不总是存在。神经影像学和基因检测可能有助于诊断。

Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterised by varying degrees of lower limb spasticity, pyramidal weakness, hyperreflexia and hypertonic bladder involvement. Clinically, HSPs can be divided into two main groups: uncomplicated (pure) and complicated (complex) forms depending on the presence of other neurological features including ataxia, peripheral neuropathy, cognitive impairment, epilepsy, amyotrophy, retinopathy, deafness, ichthyosis and extrapyramidal involvement, in addition to spastic paraparesis. Pure HSPs are characterised by slowly progressive lower extremity spasticity and weakness, often associated with hypertonic urinary disturbances, mild reduction of lower extremity vibration sense and, occasionally, of joint position sensation. Complex HSP forms are characterised by the presence of additional neurological or non-neurological features. A positive family history particularly in autosomal dominant cases is often but not always present. The diagnosis may be aided by neuroimaging and genetic testing.

跨章引用 同一概念在其他章节另有编码

• 痉挛性截瘫-肾炎-耳聋LD2H.Y

子条目 共 5 条

• 8B44.00常染色体显性遗传性痉挛性截瘫
• 8B44.01常染色体隐性遗传性痉挛性截瘫
• 8B44.02X连锁遗传性痉挛性截瘫
• 8B44.0Y其他特指的遗传性痉挛性截瘫
• 8B44.0Z未特指的遗传性痉挛性截瘫