Patient's question:
My colleague has Huntington's disease, and usually, he looks and acts no different from anyone else. However, when the disease flares up, it can be quite frightening—he won't respond even if you call him.Doctor's answer:
Huntington's disease is an autosomal dominant genetic disorder. Due to gene mutations or the excessive expansion of the CAG trinucleotide repeat sequence in the DNA matrix of chromosome 4, brain neurons undergo continuous degeneration, and the body's cells mistakenly produce a harmful substance called "Huntington protein." These abnormal proteins accumulate into clumps, damaging certain brain cells, particularly those involved in muscle control, leading to gradual deterioration of the nervous system, diffuse nerve impulses, motor coordination disorders, uncontrollable tremors, and can even progress to dementia and death.