Abstract：
OBJECTIVE: With the use of next-generation sequencing in clinical practice, several genetic etiologies of dystonia have been identified. This study aimed to ascertain the utility of clinical exome sequencing (CES) in dystonia and factors suggestive of a genetic etiology.
METHODS: This study was a retrospective chart review of patients with dystonia who had undergone CES for the evaluation of dystonia.
RESULTS: Forty-eight patients (35 males, 46 families) with dystonia were studied, with a mean age at onset of 16.0 ± 14.1 (1-58) years. A pathogenic/likely pathogenic variant was found in 20 patients (41.7%) among which 14 patients (29.2%) carried a novel variant. CES was more likely to detect a genetic diagnosis in patients with an early age at onset, i.e., ≤ 20 years.
CONCLUSIONS: CES is a useful tool in the diagnostic evaluation of dystonia, with a yield of close to 40%. Patients with an earlier age at onset have a higher likelihood of having dystonia due to a genetic cause than those with a later age at onset.
METHODS: This study was a retrospective chart review of patients with dystonia who had undergone CES for the evaluation of dystonia.
RESULTS: Forty-eight patients (35 males, 46 families) with dystonia were studied, with a mean age at onset of 16.0 ± 14.1 (1-58) years. A pathogenic/likely pathogenic variant was found in 20 patients (41.7%) among which 14 patients (29.2%) carried a novel variant. CES was more likely to detect a genetic diagnosis in patients with an early age at onset, i.e., ≤ 20 years.
CONCLUSIONS: CES is a useful tool in the diagnostic evaluation of dystonia, with a yield of close to 40%. Patients with an earlier age at onset have a higher likelihood of having dystonia due to a genetic cause than those with a later age at onset.
摘要：
目的：随着下一代测序在临床实践中的应用，已经确定了肌张力障碍的几种遗传病因。这项研究旨在确定临床外显子组测序（CES）在肌张力障碍中的应用以及提示遗传病因的因素。
方法：本研究是对接受CES评估的肌张力障碍患者进行回顾性分析。
结果：48名患者（35名男性，研究了46个患有肌张力障碍的家庭)，发病平均年龄为16.0±14.1（1-58）岁。在20例患者（41.7％）中发现了致病性/可能的致病性变异，其中14例患者（29.2％）携带了新的变异。CES更有可能在发病年龄较早的患者中检测到基因诊断，即，≤20年。
结论：CES是肌张力障碍诊断评估的有用工具，收益率接近40%。发病年龄较早的患者比发病年龄较晚的患者更有可能由于遗传原因而患有肌张力障碍。
方法：本研究是对接受CES评估的肌张力障碍患者进行回顾性分析。
结果：48名患者（35名男性，研究了46个患有肌张力障碍的家庭)，发病平均年龄为16.0±14.1（1-58）岁。在20例患者（41.7％）中发现了致病性/可能的致病性变异，其中14例患者（29.2％）携带了新的变异。CES更有可能在发病年龄较早的患者中检测到基因诊断，即，≤20年。
结论：CES是肌张力障碍诊断评估的有用工具，收益率接近40%。发病年龄较早的患者比发病年龄较晚的患者更有可能由于遗传原因而患有肌张力障碍。
