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

Syed Muzammil Hussain Shah; Aqsa Ali; Hafsa Urooj; Rabia Anum; Majid Khan; Zainab Liaqat

doi:10.66222/w3zfd439

Authors

Syed Muzammil Hussain Shah Institute of Biotechnology and Genetic Engineering, University of Agriculture, Peshawar 25130, Khyber Pakhtunkhwa, Pakistan Author
Aqsa Ali Institute of Biotechnology and Genetic Engineering, University of Agriculture, Peshawar 25130, Khyber Pakhtunkhwa, Pakistan Author
Hafsa Urooj Institute of Biotechnology and Genetic Engineering, University of Agriculture, Peshawar 25130, Khyber Pakhtunkhwa, Pakistan Author
Rabia Anum Institute of Biotechnology and Genetic Engineering, University of Agriculture, Peshawar 25130, Khyber Pakhtunkhwa, Pakistan Author
Majid Khan Institute of Biotechnology and Genetic Engineering, University of Agriculture, Peshawar 25130, Khyber Pakhtunkhwa, Pakistan Author
Zainab Liaqat Sarhad University of Science & Information Technology, Peshawar 25130, Khyber Pakhtunkhwa, Pakistan Author

DOI:

https://doi.org/10.66222/w3zfd439

Keywords:

Huntington’s disease, Chorea, Neurodegenerative disease, Family history, Case report

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.