Neurodegenerative / Genetic
An inherited neurodegenerative disorder caused by a single faulty gene, leading to progressive breakdown of neurons in the basal ganglia and producing involuntary movements, cognitive decline, and psychiatric symptoms.
Huntington's disease is an inherited neurodegenerative disorder caused by a single expanded gene - an abnormally long repeated DNA sequence in the HTT gene - that is passed down in an autosomal dominant pattern, meaning each child of an affected parent has a 50% chance of inheriting it. Symptoms most commonly emerge in a person's thirties or forties, though the age of onset and the specific mix of movement, cognitive, and psychiatric symptoms vary considerably between individuals, even within the same family.
Huntington's disease centres on progressive degeneration of the basal ganglia, particularly the striatum, which disrupts the normal balance of the circuit that selects and smooths voluntary movement - producing chorea, the involuntary, dance-like movements that are the condition's hallmark. As the disease progresses, degeneration extends to the frontal lobe and its connections, contributing to the decline in planning, judgment, and impulse control, along with the personality and mood changes many patients experience.
Because Huntington's has a single, well-identified genetic cause, it has become a major focus of gene-silencing research - therapies designed to reduce production of the harmful expanded protein using antisense oligonucleotides or related techniques, several of which are in active clinical trials. Genetic testing allows at-risk individuals to learn their status before symptoms appear, a decision that carries significant psychological weight and is typically supported by genetic counselling. Current treatment otherwise focuses on managing movement and psychiatric symptoms, alongside multidisciplinary care as the disease progresses.
This article is for general education and isn't a substitute for professional medical advice or diagnosis.
Explore the regions involved in huntington's disease in more depth:
