CLINICAL AND GENETIC-ANALYSIS OF PROGRESSIVE DYSTONIA WITH DIURNAL-VARIATION
CLINICAL AND GENETIC-ANALYSIS OF PROGRESSIVE DYSTONIA WITH DIURNAL-VARIATION
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DOI：
10.1001/archneur.1991.00530210034019
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发表时间：
1991-09-01
影响因子：
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通讯作者：
HALLETT, M
中科院分区：
文献类型：
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作者：
FINK, JK;RAVIN, PD;HALLETT, M
我们检查了17例进行性肌张力障碍与昼夜变化，显性遗传，全身性肌张力障碍，开始于儿童。肌张力障碍通常在早晨最不严重，随着白天的继续而增加，并且在低剂量卡比多巴-左旋多巴的情况下显著改善。我们还研究了患者的父母，孩子和来自七个家庭的兄弟姐妹。我们观察到一系列的神经系统受累、兄弟姐妹间的表型变异和不完全遗传多态性。运动障碍在几年内的进展，在青春期后期达到平台期，有助于区分进行性肌张力障碍与脑性瘫痪和退行性疾病的昼夜变化。重要的是要认识到微妙的，以及极端的，表现进行性肌张力障碍与昼夜变化，因为它是可治疗的。遗传咨询必须考虑到，轻度受影响的父母很少或没有残疾可能会深刻影响儿童。对表型变异性和遗传变异程度的评价将允许进行详细的遗传和生化分析。
We examined 17 patients with progressive dystonia with diurnal variation, a dominantly inherited, generalized dystonia that begins in childhood. Dystonia was typically least severe in the morning, increased as the day continued, and markedly improved with low doses of carbidopa-levodopa. We also studied the patient's parents, children, and siblings from seven families. We observed a spectrum of neurologic involvement, phenotypic variability among siblings, and incomplete genetic penetrance. Progression of motor impairment over several years, which reaches a plateau during late adolescence, is useful in distinguishing progressive dystonia with diurnal variation from cerebral palsy and degenerative disorders. It is important to recognize the subtle, as well the extreme, manifestations ot progressive dystonia with diurnal variation because it is treatable. Genetic counseling must consider that mildly affected parents with little or no disability may have profoundly affected children. Appreciation of the phenotypic variability and degree of genetic penetrance will permit detailed genetic and biochemical analyses.