Tanguy A
Centre Hospitalier Universitaire, Hôtel-Dieu, Clermont-Ferrand.
Ann Pediatr (Paris). 1993 Apr;40(4):237-41.
Rett syndrome is a degenerative neurological disorder with onset between 6 and 18 months of age. Severity of motor impairment is variable; some patients lose the ability to walk whereas others walk nearly normally. Orthopedic problems, which mainly involve the lower limbs and spine, can increase functional impairment and cause discomfort. Abnormal joint alignment in the lower limbs due to muscle contractures requires physiotherapy and orthopedic appliances. Surgery may be necessary, in particular to prevent dislocation of the hip or to correct talipes equinus. Scoliosis is common and unresponsive to conservative therapy and should be treated surgically if severe.
雷特综合征是一种退行性神经疾病,发病年龄在6至18个月之间。运动障碍的严重程度因人而异;一些患者失去行走能力,而另一些患者行走几乎正常。主要累及下肢和脊柱的骨科问题会加重功能障碍并引起不适。由于肌肉挛缩导致的下肢关节排列异常需要物理治疗和矫形器具。可能需要进行手术,特别是为了防止髋关节脱位或矫正马蹄足。脊柱侧弯很常见,对保守治疗无反应,如果严重应进行手术治疗。