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肝豆状核变性（ＨＬＤ），是一种以锥体外系征为主的脑损害或／及肝脏损害为特征的常染色体隐性遗传性疾病。但ＨＬＤ骨－肌型却是以骨骼－肌肉症状为主要特征的一种特殊类型，易被临床误诊。住我院确诊的４９８例ＨＬＤ患者中，骨－肌型仅１１例。其特征为：（１）多于青少年期发病；（２）较长期以缓慢进行性骨骼变化及进行性肌萎缩为主要临床表现，病程进展缓慢；（３）锥体外系征及肝症状缺如或轻微；（４）预后较良好。提示中国人ＨＬＤ骨－肌型与国外报告的印度籍骨－肌型的临床特征略有不同。
Hepatolenticular degeneration (HLD) is an autosomal recessive disorder characterized by extrapyramidal brain damage or / and liver damage. However, HLD bone - muscle type is a special type of skeletal - muscle symptoms as the main features, easy to be misdiagnosed clinically. Among the 498 HLD patients diagnosed in our hospital, there were only 11 cases of bone-muscle type. (1) is more than the onset of adolescence; (2) the more long-term slow skeletal changes and progressive muscle atrophy as the main clinical manifestations, slow progression; (3) Extrapyramidal signs and lack of liver symptoms Or mild; (4) the prognosis is better. Tip Chinese HLD bone - muscle type and foreign reports of the Indian bone - muscular clinical features slightly different.