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| 7 例遗传性肌张力障碍家系临床特征、基因诊断及精准治疗探讨 |
| 石艳清1,杨丽梅1,周月琪1,王军懿1,唐廷贤2,黄志2,钟敏3 |
| ([1. 乌鲁木齐市第一人民医院(乌鲁木齐儿童医院),乌鲁
木齐 830002;2. 重庆佑佑宝贝妇儿医院,重庆 401122;3. 重庆医科大学附属儿童医院,儿童少年健康与疾病国家临床医学研
究中心,儿童神经发育与认知障碍重庆市重点实验室,儿童发育疾病研究教育部重点实验室,重庆 400014]) |
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| 摘要: |
| 目的:总结遗传性肌张力障碍家系的诊断与治疗数据,以增进对疾病异质性和精准治疗的认知。方法:随访7 个肌张力
障碍家系,收集其临床信息、影像学检查、脑电图及基因检测结果。依据遗传学结果制定治疗方案,并观察治疗结果。结果:
7 例先证者均接受了头颅影像学检查和脑电图检测,未发现明显的结构性或继发性病因。其中,3 例携带GCH1 基因突变,主要
表现为学龄期下肢肌张力障碍,呈现出晨轻暮重的特点,经多巴丝肼治疗后症状完全消失。2 例携带PRRT2 基因突变,表现为
运动诱发的发作性肌张力障碍,经奥卡西平治疗后症状完全缓解。1 例携带SCN8A 基因突变,表现为癫痫合并发作性肌张力障
碍,同样在奥卡西平治疗后症状完全缓解。另外1 例携带TOR1A 基因突变,表现为进行性加重的肢体和躯干扭转痉挛,药物治
疗效果不佳,但通过深部脑刺激术(DBS),症状改善了80%。结论:遗传性肌张力障碍具有高度病因异质性,早期症状不典型,
且基因突变存在外显不全现象,易导致诊断延误。详尽的病史采集、家系信息分析和及时的基因检测有助于精准诊断病因。依
据基因分型选择个体化的治疗方案,如左旋多巴、奥卡西平或DBS 等,可显著改善患者预后。 |
| 关键词: 肌张力障碍 遗传性 基因检测 精准治疗 儿童 |
| DOI：doi:10.13407/j.cnki.jpp.1672-108X.2026.07.010 |
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| 基金项目: |
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| Clinical Characteristics, Genetic Diagnosis and Precise Treatment of Seven Families Affected by HereditaryDystonia |
| Shi Yanqing1, Yang Limei1, Zhou Yueqi1, Wang Junyi1, Tang Tingxian2, Huang Zhi2, Zhong Min3 |
| ((1. Urumqi First
People’s Hospital, Urumqi Children’s Hospital, Urumqi 830002, China; 2. Chongqing Youyoubaobei Women and Children’s Hospital,
Chongqing 401122, China; 3. Children’s Hospital of Chongqing Medical University, National Clinical Research Center for Children and
Adolescents’ Health and Diseases, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Ministry of Education
Key Laboratory of Child Development and Disorders, Chongqing 400014, China)) |
| Abstract: |
| Objective: To summarize the diagnostic and therapeutic data of families affected by hereditary dystonia, and to enhance the
understanding of disease heterogeneity and achieve precise treatment. Methods: A cohort of seven families affected by hereditary
dystonia was monitored longitudinally. Comprehensive data collection included clinical information, imaging examination, electroencephalogram
results, and genetic test results. Treatment outcomes were assessed following the implementation of therapeutic plans informed by genetic
test results. Results: Neuroimaging and electroencephalogram assessments conducted on the seven probands did not reveal any definitive
structural abnormalities or secondary etiologies. Three individuals were identified with GCH1 variant, manifesting as lower limb dystonia
during school age, characterized by milder symptoms in the morning and exacerbation in the evening, these symptoms were completely
alleviated with dopa-selegiline therapy. Two individuals exhibited PRRT2 variant, associated with paroxysmal kinesigenic dyskinesia,
which was entirely resolved following oxcarbazepine treatment. One individual presented with an SCN8A variant, experiencing epilepsy in
conjunction with episodic dystonia, which was also fully resolved with oxcarbazepine therapy. Another case involved a variant in the
TOR1A, characterized by progressively worsening torsional spasms of the limbs and trunk, which did not respond to pharmacological
treatment but showed an 80% improvement following deep brain stimulation (DBS). Conclusion: The etiology of hereditary dystonia is
highly heterogeneous. Early manifestations are atypical, and genes variants may exhibit incomplete penetrance, frequently leading to
delayed diagnosis. Comprehensive history taking, analysis of family information, and timely genetic testing are instrumental in achieving
an accurate etiological diagnosis. Based on genetic profiling, individualized treatment strategies, such as the administration of levodopa,
oxcarbazepine, or DBS, can significantly enhance patient prognosis. |
| Key words: dystonia hereditary genetic testing precision therapy children |
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