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KMT2B相关肌张力障碍的临床表现:一例报告

Clinical Presentation of KMT2B-Related Dystonia: A Case Report.

作者信息

Onoprishvili Elizabeth, Khelaia Luka, Bedoshvili Ana, Tatishvili Nana Nino, Tatishvili Sofia

机构信息

Internal Medicine, David Tvildiani Medical University, Tbilisi, GEO.

Pediatric Medicine, David Tvildiani Medical University, Tbilisi, GEO.

出版信息

Cureus. 2025 Mar 30;17(3):e81454. doi: 10.7759/cureus.81454. eCollection 2025 Mar.

DOI:10.7759/cureus.81454
PMID:40303543
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12039463/
Abstract

This case presents an eight-year-old boy who visited the clinic with complaints of worsening gait and dystonic movements. The patient had asymmetric spasticity in all extremities, which was more pronounced on the right side. The diagnosis of -related dystonia was made. -related dystonia is a generalized dystonia of childhood-onset that typically begins in the lower limbs, gradually progressing upward and leading to generalized dystonia. The patient had prominent, involuntary hand movements, mainly on the right side, and difficulties with fine motor function. These symptoms severely impacted his ability to engage in routine tasks and daily activities. Currently, he is undergoing multidisciplinary rehabilitation treatment at the Neurodevelopment Center to enhance his functional abilities and participation and to improve his overall quality of life. Given its relative rarity in clinical practice, this case underscores the importance of early recognition and thorough documentation of -related dystonia. By increasing awareness of this condition, healthcare providers can facilitate timely diagnosis and implement more effective treatment strategies. Early intervention can significantly improve outcomes and support children with this challenging disorder in leading fulfilling lives.

摘要

该病例为一名8岁男孩,因步态恶化和肌张力障碍性运动前来诊所就诊。患者四肢均有不对称性痉挛,右侧更为明显。诊断为[具体疾病名称]相关性肌张力障碍。[具体疾病名称]相关性肌张力障碍是一种儿童期起病的全身性肌张力障碍,通常始于下肢,逐渐向上发展并导致全身性肌张力障碍。患者有明显的、主要在右侧的不自主手部运动,以及精细运动功能障碍。这些症状严重影响了他进行日常任务和活动的能力。目前,他正在神经发育中心接受多学科康复治疗,以提高其功能能力和参与度,并改善其整体生活质量。鉴于其在临床实践中相对罕见,该病例强调了早期识别和全面记录[具体疾病名称]相关性肌张力障碍的重要性。通过提高对这种疾病的认识,医疗保健提供者可以促进及时诊断并实施更有效的治疗策略。早期干预可以显著改善预后,并支持患有这种具有挑战性疾病的儿童过上充实的生活。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eea8/12039463/f7ff9e4533eb/cureus-0017-00000081454-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eea8/12039463/f89c1915e25d/cureus-0017-00000081454-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eea8/12039463/f7ff9e4533eb/cureus-0017-00000081454-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eea8/12039463/f89c1915e25d/cureus-0017-00000081454-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eea8/12039463/f7ff9e4533eb/cureus-0017-00000081454-i02.jpg

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本文引用的文献

1
Reduced histone H3K4 trimethylation in oral mucosa of patients with DYT-KMT2B.患者口腔黏膜中的组蛋白 H3K4 三甲基化减少。
Parkinsonism Relat Disord. 2024 Jul;124:107018. doi: 10.1016/j.parkreldis.2024.107018. Epub 2024 May 27.
2
Detection of Modified Histones from Oral Mucosa of a Patient with DYT- Dystonia.从一名患有DYT型肌张力障碍患者的口腔黏膜中检测修饰组蛋白
Mol Syndromol. 2023 Dec;14(6):461-468. doi: 10.1159/000530625. Epub 2023 Jun 26.
3
KMT2B-Related Dystonia in Indian Patients With Literature Review and Emphasis on Asian Cohort.
印度患者中与KMT2B相关的肌张力障碍:文献综述及对亚洲队列的重点关注
J Mov Disord. 2023 Sep;16(3):285-294. doi: 10.14802/jmd.23035. Epub 2023 Jun 13.
4
Dystonias: Clinical Recognition and the Role of Additional Diagnostic Testing.Dystonias:临床识别和额外诊断测试的作用。
Semin Neurol. 2023 Feb;43(1):17-34. doi: 10.1055/s-0043-1764292. Epub 2023 Mar 27.
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Adult-onset KMT2B-related dystonia.成人起病的KMT2B相关肌张力障碍。
Brain Commun. 2022 Oct 26;4(6):fcac276. doi: 10.1093/braincomms/fcac276. eCollection 2022.
6
-Related Dystonia: Challenges in Diagnosis and Treatment.- 相关性肌张力障碍:诊断与治疗中的挑战
Mol Syndromol. 2022 Feb;13(2):159-164. doi: 10.1159/000518974. Epub 2021 Nov 17.
7
GPi-DBS for -Associated Dystonia: Systematic Review and Meta-Analysis.用于[具体疾病名称]相关性肌张力障碍的苍白球内侧部深部脑刺激术:系统评价与荟萃分析 (你提供的原文中破折号处信息缺失,可补充完整后追问我,以便给出更准确译文)
Mov Disord Clin Pract. 2021 Dec 4;9(1):31-37. doi: 10.1002/mdc3.13374. eCollection 2022 Jan.
8
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.KMT2B 相关疾病:表型谱的扩展和深部脑刺激的长期疗效。
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9
Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B.KMT2B 基因突变所致早发性泛发性进行性肌张力障碍的表型综述。
Eur J Paediatr Neurol. 2018 Mar;22(2):245-256. doi: 10.1016/j.ejpn.2017.11.009. Epub 2017 Dec 15.
10
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Mov Disord. 2017 Jul;32(7):1087-1091. doi: 10.1002/mds.27026. Epub 2017 May 18.