A Case Report on Huntington’s Disease Presenting with Progressive Motor and Cognitive Decline

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Authors: Syed Muzammil Hussain Shah, Aqsa Ali, Hafsa Urooj, Rabia Anum, Majid Khan, Zainab Liaqat
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Abstract

An uncommon, hereditary, autosomal dominant neurological condition, Huntington’s disease (HD) is marked by increasing motor dysfunction, cognitive loss, and mental symptoms (Stoker et al., 2022). A trinucleotide (CAG) repeat expansion in the HTT gene on chromosome 4 is the cause of the illness (Kumar et al., 2020). Clinical onset usually happens in mid-adulthood, and symptoms steadily get worse over time, eventually resulting in death and severe disability (Ogilvie et al., 2023). One important diagnostic characteristic is a rich family history spanning several generations (Kringlen et al., 2017). Genetic counseling, family screening, and proper symptom treatment all depend on early detection of HD.

Fields of Study & Subjects

Genetic Neurodegenerative Diseases Hereditary Neurological Disorders Neurological diseases and metabolism

Publication details

Journal / source
INTERNATIONAL JOURNAL OF APPLIED AND CLINICAL RESEARCH
Volume
4
Issue
01
Pages
5–6
Publication date
15 March 2026
Language
EN