Huntington’s disease (HD), an inherited, often late-onset, neurodegenerative disorder, is considered to be a rare, orphan disease. Research into its genetic correlates and services for those affected are inadequate in most low-middle income countries, including India. The apparent ‘incurability’ often deters symptomatic and rehabilitative care, resulting in poor quality of life and sub-optimal outcomes. There are no studies assessing disease burden and outcomes from India. We attempted to evaluate individuals diagnosed to have HD at our tertiary-care center between 2013 and 2016 for clinical symptoms, functionality, mortality, follow up status through a structured interview, clinical data from medical records and UHDRS-TFC scoring. Of the 144 patients, 25% were untraceable, and another 17 (11.8%) had already died. Mean age at death and duration of illness at the time of death, were 53 years and 7 years respectively, perhaps due to suicides and other comorbidities at an early age. The patients who could be contacted (n = 81) were assessed for morbidity and total functional capacity (TFC). Mean CAG repeat length and TFC score were 44.2 and 7.5 respectively. Most individuals (66%) were in TFC stage I and II and could perhaps benefit from several interventions. The TFC score correlated inversely with duration of illness (p < 0.0001). The majority were being taken care of at home, irrespective of the physical and mental disability. There was a high prevalence of psychiatric morbidity (91%) including suicidal tendency (22%). Three of the 17 who died had committed suicide, and several other families reported suicidal history in other family members. Only about half the patients (57%) maintained a regular clinical follow-up. This study demonstrates the poor follow-up rates, significant suicidality and other psychiatric symptoms, sub-optimal survival durations and functional outcomes highlighting the need for holistic care for the majority who appear to be amenable to interventions.

中文翻译：

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在亨廷顿舞蹈病中，精神病的发病率和随访不佳是功能和生存结果欠佳的基础。

亨廷顿舞蹈病（HD）是一种遗传性疾病，通常是迟发性神经退行性疾病，被认为是一种罕见的孤儿疾病。在包括印度在内的大多数中低收入国家，对其遗传相关性和为受影响人群提供服务的研究不足。明显的“不治之症”通常会阻止对症治疗和康复治疗，从而导致生活质量低下和结果欠佳。没有研究评估印度的疾病负担和结果。我们试图通过结构化访谈，医疗记录的临床数据和UHDRS-TFC评分，评估2013年至2016年间在我们的三级护理中心诊断为患有HD的患者的临床症状，功能，死亡率，随访状况。在144例患者中，有25％无法追踪，另外17例（11.8％）已经死亡。平均死亡年龄和死亡时病程分别为53岁和7岁，这可能是由于自杀和其他合并症导致的。评估了可以联系的患者（n = 81）的发病率和总功能能力（TFC）。平均CAG重复长度和TFC评分分别为44.2和7.5。大多数人（66％）处于TFC的第一和第二阶段，也许可以从几种干预措施中受益。TFC评分与疾病持续时间成反比（p <0.0001）。不论身体和精神残疾，大多数人都在家中得到照顾。包括自杀倾向（22％）在内的精神病患病率很高（91％）。死亡的17个人中有3个人自杀，其他几个家庭也有其他家庭成员有自杀史。只有大约一半的患者（57％）保持了定期的临床随访。这项研究表明，随访率低，自杀倾向和其他精神症状严重，生存期欠佳以及功能结局突出表明，大多数似乎需要干预的人都需要进行整体护理。