Hjermind L E, Sørensen S A, Werdelin L M
Københavns Universitet, Panum Instituttet, afdeling for medicinsk genetik.
Ugeskr Laeger. 2000 Sep 18;162(38):5066-70.
Dystonia is a heterogeneous, neurological disease characterized by involuntary, sustained muscle contractions, frequently causing twisting and repetitive movements or abnormal postures. The patients are often difficult to diagnose, and the treatment is almost always only symptomatic. It is believed that about 75% of all patients with dystonia have primary dystonia, and 25-85% of these are hereditary. Seven gene loci for autosomal, dominant inherited dystonia and two for X-linked, recessive inherited dystonia are known at present, but the underlying genes are known only for DYT1 and DYT5. Testing is possible for these two in Denmark. Growing molecular genetic knowledge will lead to earlier and correct diagnosing, including prognosis, and may elucidate the pathogenesis, making better treatment possible.
肌张力障碍是一种异质性神经疾病，其特征为不自主的持续性肌肉收缩，常导致扭转和重复性动作或异常姿势。患者通常难以诊断，治疗几乎总是仅针对症状。据信，所有肌张力障碍患者中约75%患有原发性肌张力障碍，其中25 - 85%为遗传性。目前已知7个常染色体显性遗传性肌张力障碍基因位点和2个X连锁隐性遗传性肌张力障碍基因位点，但仅DYT1和DYT5的相关致病基因已明确。在丹麦可以对这两种基因进行检测。不断增长的分子遗传学知识将有助于更早、更准确地进行诊断，包括预后评估，可能阐明发病机制，从而实现更好的治疗。
