Bundey S, Harrison M J, Marsden C D
J Med Genet. 1975 Mar;12(1):12-9. doi: 10.1136/jmg.12.1.12.
A family study of 32 patients with torsion dystonia has shown at least two forms of generalized dystonia with onset in childhood. These two forms, an autosomal dominant and an autosomal recessive, are clinically indistinguishable. There were at least three families and probably about six to eight patients with the autosomal recessive variety. The remaining nine to 11 patients with generalized childhood dystonia are thought, because of a probable paternal age effect, to be examples of new dominant mutations. Since fitness with childhood onset is 1/20 of normal, most childhood dominant cases appear sporadically. Most of the other 15 patients (12 with onset in adult life) appear to have a non-genetic torsion dystonia, although an example of a benign adult-onset dominant form associated with a tremor has been observed. It is concluded that there are at least two forms of genetic torsion dystonia, an autosomal recessive form with onset in childhood, which, on evidence from America, is particularly common in Ashkenazi Jews, and one or more dominant forms, with onset in childhood or adult life. The majority of adult-onset isolated cases of idiopathic torsion dystonia seem to be due to exogenous but unidentified causes.
一项针对32例扭转性肌张力障碍患者的家族研究表明，至少有两种类型的全身性肌张力障碍在儿童期发病。这两种类型，一种是常染色体显性遗传，另一种是常染色体隐性遗传，在临床上难以区分。至少有三个家族，可能约有六至八名患者患有常染色体隐性遗传类型。其余九至十一名患有儿童期全身性肌张力障碍的患者，由于可能存在父亲年龄效应，被认为是新的显性突变的例子。由于儿童期发病的适合度仅为正常的1/20，大多数儿童期显性病例为散发病例。其他15名患者中的大多数（12名在成年期发病）似乎患有非遗传性扭转性肌张力障碍，不过也观察到了一例与震颤相关的良性成年期发病的显性类型。研究得出结论，至少有两种类型的遗传性扭转性肌张力障碍，一种是儿童期发病的常染色体隐性遗传类型，根据美国的证据，这种类型在德系犹太人中尤为常见，另一种或多种显性类型，在儿童期或成年期发病。大多数成年期发病的特发性扭转性肌张力障碍孤立病例似乎是由外部但不明原因引起的。
