Department of Paediatric Neurology, IRCCS Fondazione C. Besta, Milan, Italy.
Department of Paediatric Neurology, IRCCS Fondazione C. Besta, Milan, Italy; Molecular Neurogenetics Unit, IRCCS Fondazione C. Besta, Milan, Italy.
Eur J Paediatr Neurol. 2018 Mar;22(2):238-244. doi: 10.1016/j.ejpn.2018.01.006. Epub 2018 Jan 17.
Isolated dystonia refers to a genetic heterogeneous group of progressive conditions with onset of symptoms during childhood or adolescence, progressive course with frequent generalization and marked functional impairment. There are well-known monogenic forms of isolated dystonia with pediatric onset such as DYT1 and DYT6 transmitted with autosomal dominant inheritance and low penetrance. Genetic findings of the past years have widened the etiological spectrum and the phenotype. The recently discovered genes (GNAL, ANO-3, KTM2B) or variant of already known diseases, such as Ataxia-Teleangectasia, are emerging as another causes of pediatric onset dystonia, sometimes with a more complex phenotype, but their incidence is unknown and still a considerable number of cases remains genetically undetermined. Due to the severe disability of pediatric onset dystonia treatment remains unsatisfactory and still mainly based upon oral pharmacological agents. However, deep brain stimulation is now extensively applied with good to excellent results especially when patients are treated early during the course of the disease.
孤立性肌张力障碍是一组具有遗传异质性的疾病，其症状在儿童或青少年时期出现，具有进行性加重的病程，常伴有广泛的症状，并导致明显的功能障碍。目前已知一些具有儿科起病的遗传性单纯性肌张力障碍的明确致病基因，例如 DYT1 和 DYT6，它们以常染色体显性遗传方式传递，且外显率较低。近年来的遗传学研究发现，其病因谱和表型都在不断扩大。最近发现的一些基因（GNAL、ANO-3、KTM2B）或已明确疾病的变异，如共济失调毛细血管扩张症，也可导致儿科起病的肌张力障碍，其表型有时更为复杂，但这些疾病的发病率尚不清楚，仍有相当数量的病例未明确其遗传病因。由于儿科起病的肌张力障碍的致残性严重，其治疗效果仍不理想，主要还是依赖于口服药物。但是，现在已经广泛应用深部脑刺激术，其疗效良好甚至极佳，尤其是在疾病早期开始治疗的患者中。
