{"title":"亨廷顿氏病:面向急诊和普通医生的临床入门书。","authors":"Thomas H Massey, Duncan J McLauchlan","doi":"10.1016/j.clinme.2024.100200","DOIUrl":null,"url":null,"abstract":"<p><p>Huntington's disease (HD) usually manifests in adulthood and is characterised by progressive neurodegeneration in the brain that causes worsening involuntary movements, mental health and cognition over many years. Depression, anxiety and apathy are common. HD is autosomal dominant and affects about 1 in 8,000 people in the UK. There are currently no disease-modifying treatments and so patient care centres on multidisciplinary therapy support and medical treatments to relieve distressing symptoms. Progression of HD is usually slow, and so acute deteriorations often indicate another problem, such as intercurrent infections, constipation, urinary retention, gastro-oesophageal reflux disease or poor dentition. In this review we outline common presentations in HD patients, both acute and chronic, consider therapeutic options and discuss specific considerations in advanced HD.</p>","PeriodicalId":10492,"journal":{"name":"Clinical Medicine","volume":"24 2","pages":"100200"},"PeriodicalIF":3.6000,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11061216/pdf/","citationCount":"0","resultStr":"{\"title\":\"Huntington's disease: A clinical primer for acute and general physicians.\",\"authors\":\"Thomas H Massey, Duncan J McLauchlan\",\"doi\":\"10.1016/j.clinme.2024.100200\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Huntington's disease (HD) usually manifests in adulthood and is characterised by progressive neurodegeneration in the brain that causes worsening involuntary movements, mental health and cognition over many years. Depression, anxiety and apathy are common. HD is autosomal dominant and affects about 1 in 8,000 people in the UK. There are currently no disease-modifying treatments and so patient care centres on multidisciplinary therapy support and medical treatments to relieve distressing symptoms. Progression of HD is usually slow, and so acute deteriorations often indicate another problem, such as intercurrent infections, constipation, urinary retention, gastro-oesophageal reflux disease or poor dentition. In this review we outline common presentations in HD patients, both acute and chronic, consider therapeutic options and discuss specific considerations in advanced HD.</p>\",\"PeriodicalId\":10492,\"journal\":{\"name\":\"Clinical Medicine\",\"volume\":\"24 2\",\"pages\":\"100200\"},\"PeriodicalIF\":3.6000,\"publicationDate\":\"2024-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11061216/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1016/j.clinme.2024.100200\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/4/6 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q1\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.clinme.2024.100200","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/4/6 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0
摘要
亨廷顿舞蹈症(Huntington's disease,HD)通常在成年后发病,其特征是大脑神经逐渐退化,导致多年来不自主运动、精神健康和认知能力不断恶化。抑郁、焦虑和冷漠是常见的症状。HD 是常染色体显性遗传病,英国每 8,000 人中就有 1 人患此病。目前尚无改变病情的治疗方法,因此患者护理主要依靠多学科治疗支持和缓解痛苦症状的药物治疗。HD 通常进展缓慢,因此急性恶化往往预示着另一个问题,如并发感染、便秘、尿潴留、胃食管反流病或牙齿不齐。在本综述中,我们将概述 HD 患者常见的急性和慢性症状,考虑治疗方案,并讨论晚期 HD 的具体注意事项。
Huntington's disease: A clinical primer for acute and general physicians.
Huntington's disease (HD) usually manifests in adulthood and is characterised by progressive neurodegeneration in the brain that causes worsening involuntary movements, mental health and cognition over many years. Depression, anxiety and apathy are common. HD is autosomal dominant and affects about 1 in 8,000 people in the UK. There are currently no disease-modifying treatments and so patient care centres on multidisciplinary therapy support and medical treatments to relieve distressing symptoms. Progression of HD is usually slow, and so acute deteriorations often indicate another problem, such as intercurrent infections, constipation, urinary retention, gastro-oesophageal reflux disease or poor dentition. In this review we outline common presentations in HD patients, both acute and chronic, consider therapeutic options and discuss specific considerations in advanced HD.
期刊介绍:
Clinical Medicine is aimed at practising physicians in the UK and overseas and has relevance to all those managing or working within the healthcare sector.
Available in print and online, the journal seeks to encourage high standards of medical care by promoting good clinical practice through original research, review and comment. The journal also includes a dedicated continuing medical education (CME) section in each issue. This presents the latest advances in a chosen specialty, with self-assessment questions at the end of each topic enabling CPD accreditation to be acquired.
ISSN: 1470-2118 E-ISSN: 1473-4893 Frequency: 6 issues per year