Ayurvedic Management of Rare Genetic Condition-Huntington's Chorea: A Case Report.

IF 1.9 4区 医学 Q3 INTEGRATIVE & COMPLEMENTARY MEDICINE
Mahesh Sharma, Sourabh Deshmukh, Trupti Thakre, Rohit Waskar, Nitika Senger
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引用次数: 0

Abstract

Background: Huntington's Chorea is a progressive neurodegenerative disorder characterized by involuntary movements, cognitive decline, and psychiatric disturbances. It is caused by an autosomal dominant mutation in the HTT gene, leading to an abnormal expansion of CAG repeats. The disease typically manifests in mid-adulthood and gradually worsens over time. The progressive nature of the disease leads to motor, cognitive, and psychiatric impairments, significantly affecting the quality of life.

Aim: This study aims to highlight the progressive nature of Huntington's disease, its impact on motor and cognitive functions, and the role of symptomatic management in improving the patient's quality of life through Ayurveda.

Methods: A 40-year-old male presented with involuntary movement in the upper and lower extremities, difficulty in doing daily routine work, anxiety, difficulty in walking, and sleeplessness for a year. A thorough Huntington's disease mutation analysis was conducted to confirm the diagnosis. The patient was treated with Ayurvedic shodana (Bio-purification), Sarvanga Snehan with Prasarini Taila, followed by Shashtik Shali Pinda Swedan, Nasya with Shadbindu Taila, Shiropichu with Brahmi Taila, Sarvang Dhara with dashmoola kwath, Erandmooladi niruh basti, and shamana (palliative) chikitsa (treatment), Zandopa powder, Balasaireyakadi Kashaya, Kalyanak ghrit, and capsule palsineuron orally for 4 months.

Result: Ayurvedic management promoted substantial improvements in behavioral health, neuromotor function, and activities of daily living as assessed by the Universidade Federal de Minas Gerais (UFMG) Sydenham's Chorea Rating Scale (USCRS).

Discussion: The patient's clinical presentation and diagnostic findings were consistent with Huntington's Chorea.

Conclusion: Huntington's Chorea is a debilitating condition with no definitive cure. Early diagnosis and a multidisciplinary management approach can help alleviate symptoms and improve patient well-being. Genetic counseling plays a crucial role in managing the familial impact of the disease.

Keywords: HTT gene, Genetic Counseling, CAG Repeat Expansion, Huntington's Chorea, Motor Dysfunction, Ayurvedic Medicine, Case Report.

阿育吠陀治疗罕见遗传病-亨廷顿舞蹈病1例报告。
背景:亨廷顿舞蹈病是一种进行性神经退行性疾病,以不自主运动、认知能力下降和精神障碍为特征。它是由HTT基因的常染色体显性突变引起的,导致CAG重复序列的异常扩增。这种疾病通常在成年中期出现,并随着时间的推移逐渐恶化。该病的进行性导致运动、认知和精神障碍,严重影响生活质量。目的:本研究旨在强调亨廷顿氏病的进行性,其对运动和认知功能的影响,以及通过阿育吠陀治疗改善患者生活质量的症状管理的作用。方法:男性,40岁,表现为上肢和下肢不自主运动,日常工作困难,焦虑,行走困难,失眠一年。进行了彻底的亨廷顿氏病突变分析以确认诊断。患者采用阿育吠陀生物净化法治疗,Sarvanga Snehan采用Prasarini Taila治疗,随后采用Shashtik Shali Pinda Swedan治疗,Nasya采用Shadbindu Taila治疗,Shiropichu采用Brahmi Taila治疗,Sarvang Dhara采用dashmoola kwath、Erandmooladi niruh basi治疗,以及shamana(缓解性)chikitsa(治疗)、赞陀巴散、Balasaireyakadi Kashaya、Kalyanak ghit和palsineuron胶囊口服4个月。结果:根据米纳斯吉拉斯州联邦大学(UFMG) Sydenham舞蹈病评定量表(USCRS)的评估,阿育吠陀治疗促进了行为健康、神经运动功能和日常生活活动的实质性改善。讨论:患者的临床表现和诊断结果与亨廷顿舞蹈病一致。结论:亨廷顿舞蹈病是一种使人衰弱的疾病,没有明确的治疗方法。早期诊断和多学科管理方法有助于减轻症状并改善患者的健康状况。遗传咨询在控制这种疾病的家族影响方面起着至关重要的作用。关键词:HTT基因,遗传咨询,CAG重复扩增,亨廷顿舞蹈病,运动功能障碍,阿育吠陀医学,病例报告
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来源期刊
Alternative therapies in health and medicine
Alternative therapies in health and medicine INTEGRATIVE & COMPLEMENTARY MEDICINE-
CiteScore
0.90
自引率
0.00%
发文量
219
期刊介绍: Launched in 1995, Alternative Therapies in Health and Medicine has a mission to promote the art and science of integrative medicine and a responsibility to improve public health. We strive to maintain the highest standards of ethical medical journalism independent of special interests that is timely, accurate, and a pleasure to read. We publish original, peer-reviewed scientific articles that provide health care providers with continuing education to promote health, prevent illness, and treat disease. Alternative Therapies in Health and Medicine was the first journal in this field to be indexed in the National Library of Medicine. In 2006, 2007, and 2008, ATHM had the highest impact factor ranking of any independently published peer-reviewed CAM journal in the United States—meaning that its research articles were cited more frequently than any other journal’s in the field. Alternative Therapies in Health and Medicine does not endorse any particular system or method but promotes the evaluation and appropriate use of all effective therapeutic approaches. Each issue contains a variety of disciplined inquiry methods, from case reports to original scientific research to systematic reviews. The editors encourage the integration of evidence-based emerging therapies with conventional medical practices by licensed health care providers in a way that promotes a comprehensive approach to health care that is focused on wellness, prevention, and healing. Alternative Therapies in Health and Medicine hopes to inform all licensed health care practitioners about developments in fields other than their own and to foster an ongoing debate about the scientific, clinical, historical, legal, political, and cultural issues that affect all of health care.
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