Nakashima K, Shimoda M, Sato K, Nanba E, Igo M, Sato K, Takahashi K
Division of Neurology, Faculty of Medicine, Tottori University, Yonago.
Intern Med. 1995 Sep;34(9):843-6. doi: 10.2169/internalmedicine.34.843.
Three siblings of a consanguineous parents with involuntary movements are reported. The mother had only a very slight neck tremor, without any other neurological abnormality, and the father had died. The 38-year-old son (Case 1) complained of involuntary movements at the age of 6. His involuntary movements were observed in the tongue, perioral region and upper and lower extremities: jerky movements with dystonic features. The 46-year-old elder brother (Case 2) experienced involuntary movements at the age of 18. Involuntary movements were observed in the upper extremities; he also had torticollis and tremulous movements in the neck, and jerky movements in the perioral region. They showed gait disturbance and dysarthria. The 35-year-old sister (Case 3) also experienced involuntary movements. When she was writing, her involuntary movements were obvious: dystonia and myoclonic jerks. Tremor in the neck was also seen. Their intelligence was below average. We concluded that this family had hereditary torsion dystonia, with myoclonus, and low intelligence. This condition may be associated with an autosomal recessive gene.
报道了一对近亲结婚的父母的三个患有不自主运动的兄弟姐妹。母亲仅有非常轻微的颈部震颤，无任何其他神经学异常，父亲已去世。38岁的儿子（病例1）6岁时出现不自主运动。其不自主运动见于舌头、口周区域及上下肢：具有肌张力障碍特征的急促运动。46岁的哥哥（病例2）18岁时出现不自主运动。上肢可见不自主运动；他还患有斜颈和颈部震颤，口周区域有急促运动。他们表现出步态障碍和构音障碍。35岁的妹妹（病例3）也出现了不自主运动。她写字时，不自主运动很明显：肌张力障碍和肌阵挛性抽搐。颈部也可见震颤。他们的智力低于平均水平。我们得出结论，这个家族患有遗传性扭转性肌张力障碍，伴有肌阵挛和智力低下。这种情况可能与常染色体隐性基因有关。
