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为了探讨Ｍａｃｈａｄｏ－Ｊｏｓｅｐｈ病在我国的发病情况，我们将１９８８年５月以来在国内相继发现的Ｍａｃｈａｄｏ－Ｊｏｓｅｐｈ病２７家系的临床、分子生物学、病理等方面进行了研究。结果显示，所有家系谱均符合常染色体显性遗传模式。发病年龄平均２９（５～３８）岁。临床突出特点为进行性共济失调、张力障碍、痉挛性肌张力增高。舌与面肌纤维性颤搐、腱反射亢进、眼球震颤等可为早期表现。姿势和运动障碍、站立不稳、趔趄步态、构音障碍、眼球快速扫视动作丧失、上视活动受限、水平性眼球震颤、眼球突出为最常见的临床表现。晚期病例除上述症状明显加重外，可见四肢远端肌肉萎缩、腱反射消失、夜间惊恐。没有明确的认知功能障碍为本病的另一临床特征。在同一家系中，可见有不同的临床类型以及型间过渡和重叠。可见后代发病年龄比先代提前的遗传早显现象。没有发现种族和地域差别。病理特征为黑质、齿状核、苍白球内侧、脑干运动神经核、克拉克柱、脊髓前角细胞、脊髓小脑束及周围神经变性和／或细胞脱失。大脑及小脑皮质正常。４个家系经基因学研究，ＭＪＤ１ＣＡＧ重复序列为７２～８６。
In order to investigate the morbidity of Machado-Joseph disease in our country, we studied the clinical, molecular biology, pathology and other aspects of Machado-Joseph disease in 27 families since May 1988 in our country. The results show that all pedigrees are consistent with autosomal dominant inheritance pattern. The average age of onset 29 (5 to 38) years old. Outstanding clinical features of progressive ataxia, dystonia, spastic muscle tension increased. Tongue and facial muscle twitch, tendon hyperreflexia, nystagmus may be early manifestations. Postural and motor disorders, standing instability, gait gait, dysarthria, glaucoma loss of fast eye movement, restricted activity, horizontal nystagmus, prominent eyeballs are the most common clinical manifestations. In addition to the advanced cases of the above symptoms were significantly worse, showing distal muscle atrophy limbs, tendon reflex disappeared, panic at night. No clear cognitive impairment is another clinical feature of this disease. In the same pedigree, there are different clinical types and transitions and overlaps between types. It can be seen that the onset age of offspring is earlier than that of the earlier generation. No ethnic and geographical differences were found. Pathological features were substantia nigra, dentate nucleus, globus pallidus, medulla oblongata, brainstem motor nucleus, Clarke column, spinal cord anterior horn cells, spinocerebellar tracts and peripheral nerve degeneration and / or cell loss. Cerebral and cerebellar cortex normal. Four families by genetic studies, MJD1CAG repeat sequence of 72 to 86.