Chorea form movements, neuropsychiatric symptoms, and cognitive impairment are hallmarks of Huntington's disease, an inherited progressive neurodegenerative illness that results in severe functional impairment. Between the ages of 30 and 40, it typically shows up. The genetic components of the disease are inherited, meaning that the afflicted individual receives the gene from a parent with the same genetic makeup. It is inherited in an autosomal-dominant manner. It is brought on by increased cytosine-adenine-guanine (CAG) tri-nucleotide repeat in Huntington’s (HTT) gene on chromosome 4p. A patient with a strong family history of Huntington's disease is described, associated with their clinical and genetic features.
No takes yet. Share an insight, caveat, or question.
MALLAMPATI VARSHINI (2024) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: