Can Huntington's disease skip a generation?

It does not truly skip generations. If a person does not inherit the gene, they cannot pass it on. However, intermediate repeat lengths can expand in subsequent generations (genetic anticipation).

At what age does Huntington's typically appear?

Symptoms most commonly appear between ages 30 and 50. Juvenile Huntington's (before age 20) accounts for about 5–10% of cases.

Is there hope for a cure?

Significant research is underway, including gene-silencing therapies that aim to reduce toxic huntingtin protein production. Clinical trials are advancing and offer hope for future disease-modifying treatments.

GeneticICD-10: G10Affects approximately 30,000 people in the U.S., with 200,000 at risk

Huntington's Disease

Also known as: Huntington's Chorea, HD

Huntington's disease is a progressive, inherited neurodegenerative disorder caused by a mutation in the HTT gene, leading to breakdown of nerve cells in the brain. It causes movement disorders, cognitive decline, and psychiatric symptoms, typically appearing between ages 30 and 50. There is currently no cure, but treatments can manage symptoms.

Symptoms

Involuntary jerking or writhing movements (chorea)

Muscle rigidity and impaired balance

Difficulty with speech and swallowing

Cognitive decline affecting judgment, memory, and planning

Personality changes, including irritability and apathy

Depression and anxiety

Obsessive-compulsive behaviors

Unintentional weight loss

Causes

Autosomal dominant mutation in the HTT gene (expanded CAG repeats)
Production of abnormal huntingtin protein that damages brain cells
Each child of an affected parent has a 50% chance of inheriting the mutation

Risk Factors

Having a parent with Huntington's disease (50% risk)
Number of CAG repeats in the HTT gene (36+ repeats cause disease)
Longer CAG repeat expansions associated with earlier onset

Diagnosis

Genetic testing for the HTT gene mutation (definitive)
Neurological examination of motor, cognitive, and psychiatric function
Brain MRI showing caudate nucleus atrophy
Predictive genetic testing for at-risk family members (with counseling)

Treatment

Tetrabenazine or deutetrabenazine for chorea
Antidepressants and mood stabilizers for psychiatric symptoms
Antipsychotics for severe behavioral disturbances
Physical therapy to maintain mobility and balance
Speech therapy for communication and swallowing difficulties
Occupational therapy for daily living adaptations

When to See a Doctor

You notice involuntary movements, personality changes, or cognitive decline
A family member has been diagnosed with Huntington's disease
You are considering predictive genetic testing
Existing symptoms are worsening

Frequently Asked Questions

Related Conditions

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