亨廷顿病

最后审阅: 4 九月 2022
最后更新: 25 三月 2022

小结

定义

病史和体格检查

关键诊断因素

  • positive family history of Huntington's disease
  • 已知亨廷顿基因 N 末端上 CAG 重复序列的延长情况
  • 工作或学习能力受损
  • 人格改变
  • 易激惹和冲动
  • 舞蹈病
  • 颤搐或躁动
  • 丧失协调能力
  • 精细动作协调缺陷
  • 快速(扫视)眼球运动变慢
  • 持续运动不能
  • 足尖足跟衔接行走受损
更多 关键诊断因素

其他诊断因素

  • 注意力受损/任务焦虑或冷漠
  • 相对于配偶/兄弟姐妹认知能力下降
  • 个人习惯/卫生改变
  • 脱抑制或异常焦虑行为
  • 抑郁症、强迫症和冲动
其他诊断因素

危险因素

  • 亨廷顿基因 N 末端上的 CAG 重复序列延长
  • 其他遗传因素:
  • 家族史
更多 危险因素

诊断性检查

首要检查

  • 无初始试验
更多 首要检查

需考虑的检查

  • CAG 重复检测
  • MRI 或 CT 扫描
更多 需考虑的检查

治疗流程

持续性治疗

所有患者

撰稿人

作者

Mitsuko Nakajima MD, MD

Clinical Research Fellow

Huntington's Disease Centre

Queen Square Institute of Neurology

Department of Neurodegenerative Disease

Russell Square House

London

UK

利益声明

MN declares no competing interests.

鸣谢

Dr Mitsuko Nakajima would like to gratefully acknowledge Dr Peter McColgan, Dr Sarah Tabrizi, Dr David Craufurd, Dr Marianne Novak, and Dr Francis Walker, previous contributors to this topic.

利益声明

FW declared that he had no competing interests. MN is an author of a reference cited in this topic. DC has received fees for advisory board membership from Hoffmann-La Roche Ltd. SJT has received grant funding for her research from CHDI Foundation, the BBSRC, Dementia and Neurodegenerative Disease Network UK, European Huntington’s Disease Network, Huntington’s Disease Association of the UK, the Medical Research Council UK, Takeda Pharmaceuticals, the UCL/UCLH Biomedical Research Centre, and the Wellcome Trust. SJT has been on advisory boards or had consultancies with F. Hoffmann-La Roche Ltd, Ixico Technologies, Shire Human Genetic Therapies, Takeda Pharmaceuticals International, and TEVA Pharmaceuticals; all honoraria for these consultancies and advisory boards were paid to UCL. Through the offices of UCL Consultants Ltd, a wholly owned subsidiary of UCL, SJT has undertaken consultancy services for F. Hoffmann-La Roche Ltd and GSK. ST is also an author of references cited in this topic PM declared that he had no competing interests.

同行评议者

Adrian Priesol, MD, FRCPC

Instructor

Massachusetts Eye and Ear Infirmary

Harvard Medical School

Boston

MA

利益声明

AP declares that he has no competing interests.

Tiago Mestre, MD, MSc

Resident Neurology

Neurological Clinical Research Unit

Institute of Molecular Medicine

Lisbon

Portugal

利益声明

TM declares that he has no competing interests.

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