Jennifer de la Cruz is director of clinical education and a clinical assistant professor in the PA program at Mercer University in Atlanta, Ga. Joseph Hwang was a student in the PA program at Mercer University when this article was written, and now practices at Urgent Care of Oconee in Watkinsville, Ga. The authors have disclosed no potential conflicts of interest, financial or otherwise.
JAAPA. 2021 Apr 1;34(4):26-31. doi: 10.1097/01.JAA.0000735740.95438.60.
Huntington disease is a rare genetic disorder characterized by motor, cognitive, and psychiatric impairments. Although the typical patient has a positive family history and initially presents with chorea between ages 30 and 50 years, some patients do not have a typical presentation. Healthcare providers should know when to refer patients to neurology for testing for Huntington disease. The earlier the diagnosis is made, the earlier the patient and patient's family can receive education about the expected disease trajectory. A multidisciplinary approach is required to mitigate symptoms as the disease progresses. Although no cure exists, ongoing research is targeting genotypic abnormalities in hopes of finding a permanent treatment for Huntington disease.
亨廷顿病是一种罕见的遗传性疾病，其特征是运动、认知和精神障碍。尽管典型的患者有阳性家族史，并在 30 至 50 岁之间出现舞蹈症，但也有一些患者没有典型表现。医疗保健提供者应该知道何时将患者转介给神经病学进行亨廷顿病检测。越早做出诊断，患者及其家属就能越早接受有关预期疾病进程的教育。需要采取多学科方法来缓解疾病进展中的症状。尽管目前尚无治愈方法，但正在进行的研究针对基因型异常，希望能找到亨廷顿病的永久治疗方法。
