Understanding Huntington's Disease: Symptoms, Diagnosis, and Treatment Options

Creator: Doctronic
Published: 2023-08-16

Medically reviewed by Alan Lucks | MD, Alan Lucks MDPC Private Practice - New York on August 16th, 2023.

Key Takeaways

This autosomal dominant disorder means each child of an affected parent has exactly a 50% inheritance risk, caused by expanded CAG repeats (over 40) in the HTT gene on chromosome 4.
Chorea—the characteristic involuntary jerking movements—typically appears first between ages 30-50, followed by cognitive decline and psychiatric symptoms over 15-20 years.
Genetic testing can confirm the mutation decades before symptoms appear, but many at-risk individuals choose not to test due to insurance discrimination concerns and lack of preventive treatments.
Tetrabenazine and deutetrabenazine are FDA-approved medications that can reduce chorea by 25-50%, though they may worsen depression and require careful psychiatric monitoring.
Brain imaging shows progressive striatal atrophy, with caudate nucleus volume loss correlating with disease severity and serving as a biomarker for clinical trials.

Huntington's disease (HD) is a hereditary disorder that causes nerve cells in the brain to break down over time. This leads to a gradual decline in physical and mental abilities. Although there is no cure for Huntington's disease, there are ways to manage symptoms and maintain quality of life.

Symptoms of Huntington's Disease

Symptoms of Huntington's disease usually appear between the ages of 30 and 50, but they can begin at any time from childhood to advanced age. The disease progresses in stages, with symptoms worsening over time.

Early Stage Symptoms

Trouble learning new things
Difficulty making decisions
Memory lapses
Mood swings
Clumsiness
Slow or abnormal eye movements
Muscle problems (dystonia)
Trouble sleeping (insomnia)
Loss of energy and fatigue

Middle Stage Symptoms

Uncontrolled twitching movements (chorea)
Trouble walking
Confusion
Memory loss
Personality changes
Speech changes
Decline in thinking abilities
Swallowing problems
Breathing problems
Thoughts of death, dying, or suicide
Weight loss
Development of obsessive-compulsive disorder (OCD), bipolar disorder, or mania

Late Stage Symptoms

In the late stages of Huntington's disease, individuals require full-time care. Walking and speaking become impossible, but awareness of loved ones may still be present. Fidgety movements may become severe or subside.

Juvenile Huntington's Disease Symptoms

When Huntington's disease begins in childhood or adolescence, it is called juvenile Huntington's disease. Symptoms may progress more quickly and include:

Stiff or awkward walking
Increased clumsiness
Changes in speech
Trouble paying attention
Sudden drop in school performance
Behavior problems
Tremors
Seizures

Understanding Huntington's Disease: Symptoms, Diagnosis, and Treatment Options

Diagnosing Huntington's Disease

A diagnosis of Huntington's disease is based on family history, physical exam, and neurological tests. A neurologist may assess reflexes, muscle strength, balance, sense of touch, vision, hearing, mood, mental status, memory, reasoning, thinking skills, and speech.

Treatment and Home Remedies for Huntington's Disease

While there is no cure for Huntington's disease, treatment focuses on managing symptoms and maintaining quality of life. This may include:

Medications to control fidgety movements, mood disorders, and obsessive-compulsive disorder
Speech or language therapy for speech and swallowing problems
Occupational or physical therapy to help with movement control
Assistive devices such as handrails
Nutritional support, including special utensils and nutrient-dense foods
Exercise to maintain fitness and well-being
Psychotherapy to manage emotional and cognitive changes

Family members can help by making home modifications, such as adding wheelchair ramps, safety bars, and voice-controlled devices. Maintaining a regular routine, limiting distractions, and keeping life as calm and low-stress as possible can also be beneficial.

Causes of Huntington's Disease

Huntington's disease is caused by an abnormal copy of the HD gene, which is passed from parent to child. If one parent has the abnormal gene, each child has a 50% chance of inheriting it. The disease does not skip generations, and both men and women are equally likely to inherit the gene.

The HD gene contains a section of DNA called CAG repeats. In people with Huntington's disease, this section is abnormally long. A phenomenon called "anticipation" can occur in Huntington's disease, where the number of CAG repeats tends to increase when passed from one generation to the next. This means that children may develop symptoms at an earlier age than their affected parent, and the disease may be more severe. This anticipation effect is particularly pronounced when the gene is inherited from the father.

If you have a family history of Huntington's disease and are considering genetic testing, it is recommended to seek professional genetic counseling first. Counselors can help explain what to expect from the test results and provide support throughout the process.

While there is currently no cure for Huntington's disease, researchers are working to better understand the disease and develop new treatments. The discovery of the HD gene in 1993 has opened up new avenues for research and brings hope for future advancements in care.

For more information and support, visit the Huntington's Disease Society of America and the National Institute of Neurological Disorders and Stroke.

The Bottom Line

While no cure exists, early symptom management with specialized medications and multidisciplinary care can significantly improve quality of life and functional independence. Genetic counseling is crucial for family planning decisions given the 50% inheritance pattern. If you're experiencing involuntary movements, cognitive changes, or have a family history of the condition, Doctronic can help you understand your symptoms and next steps.