Huntington's disease
Huntington's disease is a progressive brain disorder that causes uncontrolled movements, emotional instability, and a decline in cognitive abilities.
Overview
Huntington's disease is a progressive disorder that affects nerve cells (neurons) in the brain. The most common form, adult-onset, typically appears in a person's thirties or forties. A less common juvenile form begins in childhood or adolescence and tends to progress more rapidly.
Symptoms
- Movement issues: Involuntary jerking or twitching (chorea), poor coordination, trouble walking, speaking, and swallowing.
- Cognitive decline: Difficulty learning new information, making decisions, and a general decline in thinking and reasoning.
- Emotional/Personality changes: Irritability and depression.
- Juvenile-specific symptoms: Slow movements, clumsiness, frequent falling, rigidity, slurred speech, drooling, and seizures.
Causes
The disorder is caused by variants in the HTT gene. The condition involves a trinucleotide repeat, specifically a DNA segment known as a CAG segment. While this segment is normally repeated 10 to 35 times, individuals with Huntington's disease have 36 or more repeats. This leads to the production of an abnormally long huntingtin protein that breaks into toxic fragments, causing neuron dysfunction and death.
Inheritance
Huntington's disease is inherited in an autosomal dominant pattern. As the gene is passed from one generation to the next, the size of the CAG repeat often increases—a phenomenon called anticipation—which is typically associated with an earlier onset of symptoms.
