McCusker Elizabeth A, Loy Clement T
Huntington Disease Service, Neurology Department, Westmead Hopsital, Sydney, Australia.
University of Sydney Medical School, Sydney, Australia.
Tremor Other Hyperkinet Mov (N Y). 2017 Sep 6;7:467. doi: 10.7916/D8PK0TDD. eCollection 2017.
The management of patients and families affected by Huntington disease (HD) is complicated by several factors, both practical and ethical. It can be difficult to determine the onset of clinically manifest HD (mHD). In addition, it can be challenging to decide when to disclose the diagnosis to the affected individual. Firstly, the features of HD, an incurable, inherited, neurocognitive disorder that often manifests in young adulthood, influence how the person presents and accepts a diagnosis. Secondly, a positive genetic test for HD may result in a genetic diagnosis, sometimes years before the development of clinical features and the diagnosis of mHD. Thirdly, observational studies of unaffected gene expansion carriers documented HD manifestations up to 10 years before the typical presentation for diagnosis. These developments may permit earlier genetic diagnosis and information regarding the patient's likely status with respect to the development of clinical disease. Making the genetic diagnosis of HD and providing information regarding disease status, earlier rather than later, respects the person's right to know and preserves honesty in the doctor/patient relationship. Conversely, delaying the diagnosis respects the right not to know, avoids potential discrimination, and permits the person to live a "normal" life for longer, in the context of a disease without cure. This discussion has implications for other inherited and neurocognitive disorders.
亨廷顿舞蹈症（HD）患者及其家属的管理因多种实际和伦理因素而变得复杂。确定临床显性HD（mHD）的发病时间可能很困难。此外，决定何时向受影响的个体披露诊断结果也具有挑战性。首先，HD是一种无法治愈的遗传性神经认知障碍，通常在成年早期出现，其特征会影响患者对诊断的呈现和接受方式。其次，HD的基因检测呈阳性可能会导致基因诊断，有时在临床特征出现和mHD诊断之前数年就已得出。第三，对未受影响的基因扩增携带者的观察性研究记录了在典型诊断表现出现前长达10年的HD表现。这些进展可能允许更早地进行基因诊断，并提供有关患者临床疾病发展可能状况的信息。尽早而非推迟进行HD的基因诊断并提供有关疾病状况的信息，既尊重了患者知情权，又维护了医患关系中的诚实。相反，推迟诊断则尊重了不知情的权利，避免了潜在的歧视，并使患者在无法治愈的疾病背景下能更长时间地过上“正常”生活。这一讨论对其他遗传性和神经认知障碍也有启示。
