Unravelling Huntington’s Disease: A Comprehensive Case Report and Review of Current Insights

^1,3Post Graduate Trainee, Department of Medicine, Assam Medical College and Hospital, Dibrugarh, Assam, India

²Associate Professor, Department of Medicine, Assam Medical College and Hospital, Dibrugarh, Assam, India

*Corresponding author: Dr. Siddhant Kumar, Post Graduate Trainee, Department of Medicine, Assam Medical College and Hospital, Dibrugarh, Assam, PIN - 786002, India, Phone: +91-7351374792, Email: [email protected]

Received Date: August 19, 2025

Published Date: October 16, 2025

Citation: Kumar S, et al. (2025). Unravelling Huntington’s Disease: A Comprehensive Case Report and Review of Current Insights. Mathews J Neurol. 9(1):32.

Copyrights: Kumar S, et al. © (2025).

ABSTRACT

Huntington's disease (HD) is a rare neurodegenerative disorder characterized by progressive degeneration of GABAergic neurons in the basal ganglia, leading to subcortical dementia, behavioral disturbances, and involuntary choreiform movements. Diagnosis is confirmed through molecular testing for CAG repeat expansions. While no cure exists, treatment focuses on symptomatic relief via pharmacological, physical, and psychosocial interventions. This report presents a case of a 50-year-old male with typical HD features supported by imaging and genetic testing.

Keywords: Huntington’s Disease, CAG Repeat, Basal Ganglia, Genetic Testing, Chorea.