Skip to content
English
  • There are no suggestions because the search field is empty.

Huntington Disease

Condition: Huntington Disease

Brief Overview: Huntington's disease (HD) is a progressive, inherited neurodegenerative disorder that affects movement, cognition, behavior, and psychiatric health. It is caused by an abnormal expansion of a CAG trinucleotide repeat in the HTT gene.

Symptoms most often begin during adulthood, commonly around ages 40–50, although both earlier and later onset can occur. As the disease progresses, patients may develop involuntary movements, difficulty with voluntary movement, impaired balance and walking, speech and swallowing problems, cognitive decline, depression, irritability, apathy, impulsivity, and other behavioral or psychiatric symptoms.

HD is progressive, and there is currently no FDA-approved treatment proven to stop or slow the underlying disease process. Current treatment focuses on controlling symptoms, maintaining independence and safety, preventing complications, and supporting patients and caregivers.

Prevalence: According to UpToDate, a 2022 meta-analysis that evaluated HD epidemiology studies published since 2010 noted that “the worldwide prevalence of HD was 4.88 cases per 100,000 persons.”

Etiology: According to UpToDate, Huntington Disease “is caused by a cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the huntingtin (HTT) gene on chromosome 4p and inherited in an autosomal dominant pattern. The pathophysiology of HD is not fully understood, although it is thought to be related to toxicity of the mutant huntingtin protein.”

Risk Factors: The primary risk factor is:

  • Having a parent with an HD-causing HTT gene expansion.

Because the condition is genetic, lifestyle factors do not cause Huntington's disease.

Absence of a known family history does not completely exclude HD. Family history may be unknown, previous generations may have died before developing recognizable symptoms, disease may have been misdiagnosed, or an intermediate allele may have expanded between generations.

Commonly Associated Conditions: Common concerns include:

  • Depression.
  • Anxiety.
  • Irritability.
  • Apathy.
  • Impulsivity.
  • Obsessive or perseverative behavior.
  • Psychosis in some patients.
  • Cognitive impairment.
  • Reduced judgment and insight.
  • Chorea.
  • Dystonia.
  • Rigidity and bradykinesia, particularly later in disease.
  • Falls.
  • Dysarthria.
  • Dysphagia.
  • Aspiration risk.
  • Weight loss and malnutrition.
  • Sleep disturbance.
  • Constipation.
  • Caregiver stress and burnout.

HD affects motor, cognitive, psychiatric, and functional domains, so effective care should not focus on chorea alone.

Common Medications:

  • Medication for chorea that interferes with function: VMAT2 inhibitors and antipsychotics
    • VMAT2 inhibitors: tetrabenazine, deutetrabenazine, valbenazine
    • Second-generation antipsychotics: aripiprazole, olanzapine, risperidone
    • First-generation antipsychotics: haloperidol, fluphenazine
    • Benzodiazepines may be indicated for short-term use
  • Medications may be prescribed for symptoms management

⚠️ Key Points for Care Coordinators & Patients

  • Do not advise a patient to start, stop, increase, decrease, or change the timing of any medication.
  • Ask who currently manages the patient's medications.
  • Cognitive impairment may make independent medication management unsafe.
  • Ask about new sedation, rigidity, slowing, falls, swallowing difficulty, depression, or behavioral changes after medication changes.
  • Ask specifically about depression and suicidal thoughts in patients taking VMAT2 inhibitors.
  • Involve the patient's caregiver when appropriate because patients may have reduced awareness or insight into their own functional or behavioral changes.
  • Report new or worsening neurologic, psychiatric, swallowing, or functional symptoms to the neurologist/HD team.

Common Labs, Imaging, and Tests:

  • Genetic testing
  • Swallowing evaluation may be ordered

Common Treatments:

  • Medication (see above)
  • Treatment for symptomatic management
  • Physical and occupational therapy
  • Speech therapy
  • Nutritional therapy/management
  • Palliative care

Common Symptoms:

Chorea

Chorea consists of involuntary, irregular, unpredictable movements that may appear restless or dance-like.

It may involve:

  • Face.
  • Trunk.
  • Arms.
  • Hands.
  • Legs.

Chorea may contribute to:

  • Falls.
  • Difficulty eating.
  • Spilling food or drinks.
  • Difficulty dressing.
  • Difficulty writing.
  • Difficulty safely completing daily activities.

Not every patient recognizes their own chorea.

Other Motor Symptoms

As HD progresses, patients may also develop:

  • Bradykinesia/slowed movement.
  • Rigidity.
  • Dystonia.
  • Impaired coordination.
  • Difficulty initiating voluntary movements.
  • Abnormal eye movements.
  • Gait impairment.
  • Poor balance.
  • Falls.
  • Dysarthria.
  • Dysphagia.

Late-stage HD may involve less obvious chorea but more rigidity, bradykinesia, dystonia, and severe difficulty with voluntary movement.

Cognitive Symptoms

Possible changes include:

  • Slowed thinking.
  • Difficulty planning.
  • Difficulty organizing.
  • Poor multitasking.
  • Reduced mental flexibility.
  • Difficulty solving problems.
  • Reduced judgment.
  • Difficulty making decisions.
  • Difficulty learning new information.
  • Perseveration or becoming "stuck" on a thought or activity.
  • Reduced awareness of impairments.

Memory may be affected, but executive dysfunction can be particularly prominent.

Psychiatric and Behavioral Symptoms

Possible symptoms include:

  • Depression.
  • Anxiety.
  • Irritability.
  • Anger or aggression.
  • Apathy.
  • Social withdrawal.
  • Impulsivity.
  • Obsessive or repetitive behavior.
  • Psychosis.
  • Reduced inhibition.
  • Suicidal ideation.

Psychiatric and behavioral symptoms may sometimes create greater caregiver burden than the motor symptoms themselves.

Apathy

Apathy is common and may look like:

  • Lack of motivation.
  • Reduced initiation.
  • Staying in bed or sitting for long periods.
  • Reduced participation in activities.
  • Failure to complete tasks unless prompted.

Apathy is not necessarily the same as depression.

A patient with apathy may say they feel fine but simply do not initiate activities.

Swallowing Symptoms

  • Coughing while eating or drinking.
  • Choking.
  • Food remaining in the mouth.
  • Difficulty coordinating chewing.
  • Eating too quickly.
  • Taking very large bites.
  • Difficulty swallowing pills.
  • Meals taking a long time.
  • Recurrent chest infections.
  • Weight loss.

Weight Loss

Weight loss may occur even when a patient appears to eat adequately and can become more pronounced as disease progresses.

Contributing factors may include:

  • Increased energy expenditure from movements.
  • Difficulty feeding oneself.
  • Dysphagia.
  • Cognitive or behavioral problems affecting meals.
  • Long meal times.
  • Reduced appetite.
  • Difficulty shopping or preparing food.

Speech and Communication Changes

  • Slurred speech.
  • Reduced speech clarity.
  • Changes in volume or rhythm.
  • Difficulty organizing thoughts before speaking.
  • Difficulty finding words.
  • Reduced initiation of conversation.

Physical Findings:

  • Chorea.
  • Dystonia.
  • Rigidity.
  • Bradykinesia.
  • Abnormal eye movements.
  • Impaired coordination.
  • Hyperreflexia.
  • Abnormal gait.
  • Poor postural stability.
  • Dysarthria.
  • Difficulty with voluntary motor sequencing.

Potential Complications and Contraindications:

  • Falls and injuries.
  • Loss of mobility.
  • Difficulty completing ADLs.
  • Medication errors.
  • Poor judgment and unsafe decision-making.
  • Driving-related safety concerns.
  • Dysphagia.
  • Choking.
  • Aspiration pneumonia.
  • Malnutrition.
  • Dehydration.
  • Significant weight loss.
  • Depression.
  • Suicidal behavior.
  • Aggression or unsafe behavior.
  • Cognitive decline.
  • Loss of financial independence.
  • Caregiver burnout.
  • Increasing need for supervision or long-term care.

⚠️ Suicide Risk

Depression and suicide risk are important considerations in Huntington disease.

Warning signs may include:

  • Talking about death or suicide.
  • Expressing hopelessness.
  • Saying others would be better off without them.
  • Withdrawal from family or activities.
  • Giving away possessions.
  • Saying goodbye unexpectedly.
  • Developing a specific suicide plan.
  • Significant agitation.
  • Major changes in sleep.
  • Sudden unexpected mood improvement after severe depression.

Care coordinators should take suicidal statements seriously.

Emergency Mental-Health Escalation

Follow organizational emergency/suicide-risk protocol when the patient:

  • Has active suicidal thoughts with intent or a plan.
  • Has recently attempted self-harm.
  • Cannot commit to immediate personal safety.
  • Is behaving in a way that creates an immediate risk of serious harm to self or others.
  • Has severe psychosis or agitation creating an immediate safety risk.

Do not simply send a routine message to neurology and wait for a response when there is an immediate safety concern.

Sudden Change From Baseline

HD is progressive, but progression generally occurs over time.

A sudden change over hours or days should not automatically be attributed to Huntington's disease.

Potential causes include:

  • Infection.
  • Dehydration.
  • Medication adverse effects.
  • Medication withdrawal.
  • Constipation.
  • Pain.
  • Metabolic abnormalities.
  • Stroke.
  • Head injury.
  • Hypoglycemia or hyperglycemia.
  • Other acute medical illness.

A sudden increase in confusion, behavioral disturbance, falls, sleepiness, or functional decline warrants evaluation for an acute cause.

General Health and Lifestyle Guidance:

  • Maintain regular neurology or HD-specialty follow-up.
  • Take medications exactly as prescribed.
  • Report new or changed neurological symptoms to the neurologist.
  • Maintain a structured, predictable daily routine when helpful.
  • Simplify complex tasks.
  • Use calendars, reminders, written instructions, or caregiver cueing.
  • Supervise medications when cognition or judgment makes independent medication management unreliable.
  • Monitor weight regularly.
  • Report ongoing or unexplained weight loss.
  • Follow speech-language pathology swallowing recommendations.
  • Do not alter food consistency without appropriate clinical guidance when significant dysphagia is present.
  • Use prescribed mobility devices.
  • Reduce fall hazards.
  • Maintain regular physical activity according to PT/medical recommendations.
  • Monitor driving safety.
  • Consider occupational therapy or formal driving evaluation when concerns develop.
  • Reassess financial-management ability as cognitive impairment progresses.
  • Maintain appropriate dental care because involuntary movements and impaired self-care may complicate oral hygiene.
  • Encourage advance-care planning before severe cognitive impairment limits meaningful participation.
  • Encourage caregivers to seek respite care, social-work assistance, support groups, or additional home help when needed.

Suggested Questions to Ask Patients: Caregiver input is particularly valuable in HD because cognitive changes and reduced insight may cause the patient to underestimate their symptoms.

Movement and Function

  • Have the involuntary movements changed since our last call?
  • Are the movements interfering with eating, dressing, walking, or sleeping?
  • Are you having more difficulty controlling voluntary movements?
  • Have you become more stiff or slow?
  • Are you having difficulty getting out of a chair?
  • Has your walking changed?
  • Have you fallen or almost fallen?
  • Are you using your prescribed walker or other mobility device?
  • Do you feel safe walking independently?

Cognition

  • Have you or your family noticed changes in thinking or decision-making?
  • Are you having more difficulty planning or completing tasks?
  • Are appointments or medications becoming harder to manage?
  • Are you having trouble handling finances?
  • Are you getting "stuck" on certain ideas or activities?
  • Does the caregiver feel the patient recognizes their current limitations?

Mood and Behavior

  • How has your mood been recently?
  • Have you been feeling depressed or hopeless?
  • Have you had thoughts that life is not worth living?
  • Have you thought about hurting yourself?
  • Have you been more irritable or angry?
  • Have there been episodes of aggression?
  • Have you been unusually anxious?
  • Have you lost interest or motivation to do things?
  • Have family members noticed significant personality or behavior changes?
  • Are there hallucinations or significant suspiciousness?

Swallowing and Nutrition

  • Are you coughing or choking while eating or drinking?
  • Are meals taking longer?
  • Are you having difficulty chewing?
  • Are you putting too much food in your mouth at once?
  • Are you having trouble swallowing pills?
  • Has your appetite changed?
  • Have you lost weight?
  • Do you need help preparing food or feeding yourself?
  • Have you seen speech therapy or a dietitian recently?

Medication Safety

  • Who currently manages your medications?
  • Are medications being taken as prescribed?
  • Have any medications recently been started, stopped, or changed?
  • Has chorea improved with treatment?
  • Have you become more sleepy, stiff, slow, or unsteady since starting treatment?
  • Has mood changed since starting or changing a medication?
  • Have there been any new falls?
  • Is swallowing more difficult?

Driving and Home Safety

  • Are you currently driving?
  • Have there been any accidents, near-accidents, getting lost, or family concerns about driving?
  • Is the patient routinely left alone?
  • Has the patient wandered or become lost?
  • Are there weapons or other potentially dangerous items in the home that require safety planning?
  • Does the caregiver feel the patient can safely manage medications, cooking, finances, or other complex tasks?

Caregiver Support

  • Who currently helps the patient?
  • Has the amount of assistance needed increased?
  • Is the caregiver able to safely meet the patient's current needs?
  • Does the caregiver feel overwhelmed?
  • Is additional home assistance, respite care, social work, or long-term-care planning needed?

⚠️ Standard Neurology Symptom-Change Guidance

For any new neurologic symptom or change/worsening of an existing neurologic symptom, advise the patient or caregiver to contact the patient's neurologist/HD team to report the change.

Examples include new or worsening:

  • Chorea.
  • Rigidity or slowed movement.
  • Dystonia.
  • Weakness.
  • Balance or walking difficulty.
  • Falls.
  • Speech changes.
  • Swallowing difficulty.
  • Cognitive changes.
  • Behavioral or psychiatric symptoms.
  • Functional decline.
  • Other neurological changes.

Care coordinators should not independently determine that a new or worsening neurological symptom is simply expected progression of Huntington's disease.

If symptoms meet criteria for urgent or emergency evaluation, do not delay appropriate care while waiting for the neurologist to respond. Follow organizational escalation policies and direct the patient to the appropriate level of urgent or emergency evaluation.

⚠️ VMAT2 Inhibitor Safety

VMAT2 inhibitors can potentially cause or worsen:

  • Depression.
  • Suicidal ideation.
  • Sedation.
  • Parkinsonism.
  • Restlessness/akathisia.
  • Difficulty swallowing.
  • Functional impairment.

A decrease in chorea does not automatically mean overall function has improved. Medication-induced rigidity, sedation, or parkinsonism may sometimes impair walking or function more than the patient's original chorea.

Care coordinators should ask about both:

  • Chorea control, and
  • Overall ability to walk, eat, communicate, and complete daily activities.

⚠️ Telephone Escalation Guidance

Emergency — Follow 911/Emergency Protocol

Follow organizational emergency protocol for:

  • Suicidal thoughts
  • Active suicidal intent or plan.
  • Immediate risk of serious harm to self or others.
  • Rapid decline in function.
  • Severe psychosis or agitation creating immediate danger.
  • Sudden facial droop.
  • Sudden one-sided weakness or numbness.
  • Sudden new speech difficulty concerning for stroke.
  • Loss of consciousness.
  • Seizure.
  • Severe difficulty breathing.
  • Severe choking or airway obstruction.
  • Inability to manage secretions or protect the airway.
  • Serious fall with head injury, loss of consciousness, significant bleeding, or major injury.
  • New inability to awaken normally or profound altered consciousness.

Do not assume sudden neurological or behavioral symptoms are caused by HD progression.

Prompt/Same-Day Clinical Escalation

Notify the appropriate clinical team according to organizational protocol for:

  • Significant increase in depression or hopelessness.
  • New hallucinations or psychosis.
  • Significant new aggression or unsafe behavior.
  • Sudden or marked increase in confusion.
  • New or recurrent falls.
  • New swallowing difficulty.
  • Coughing or choking with meals.
  • Significant decrease in eating or drinking.
  • Ongoing or unexplained weight loss.
  • New medication followed by marked sedation, stiffness, parkinsonism, or behavioral change.
  • Caregiver reporting they can no longer safely manage the patient at home.

Suggested Talking Points:

Explaining Huntington's disease

"Huntington's disease can affect movement, thinking, mood, and behavior. We want to keep track of changes in all of those areas, not just the involuntary movements."

Discussing new symptoms

"Any new or noticeable change in your neurological symptoms should be reported to your neurologist. If something changes suddenly or seems severe, we may need to follow urgent or emergency-care recommendations instead."

Discussing chorea

"The involuntary movements in Huntington's are called chorea. Medication can reduce chorea, but the goal is to make daily activities safer and easier rather than simply eliminating every movement."

Discussing cognitive changes

"Huntington's can make planning, organizing, and decision-making more difficult. Sometimes family members notice those changes before the person experiencing them does, so caregiver input can be very helpful."

Discussing apathy

"Lack of motivation is common in Huntington's and isn't always the same thing as depression. Let the healthcare team know if there's a major change in activity, motivation, or mood."

Discussing swallowing

"If meals are taking longer, you're coughing or choking, or you're losing weight, your healthcare team should know. Speech therapy and nutrition support can help make eating safer and easier."

Discussing mood

"Depression can occur with Huntington's disease, and it's important for us to ask about it directly. Thoughts of self-harm or suicide should always be reported immediately."

Discussing medication management

"As thinking and memory change, managing medications can become harder. Having someone help with medications can prevent missed doses or accidental double doses."

Discussing caregivers

"Huntington's can gradually change how much help someone needs. We want to add support before the patient or caregiver reaches the point where care is no longer safe."

Suggested SMART Goal Examples

1. Neurology Follow-Up
"I will schedule and attend my recommended Huntington's disease/neurology appointment within the next ___ days."

2. Medication Adherence
"I or my caregiver will use my medication organizer each day for the next 30 days to make sure my medications are taken as prescribed."

3. Fall Prevention
"I will remove loose rugs and clutter from the main walking areas of my home within the next 7 days."

4. Assistive Device Use
"I will use my prescribed walker for the activities recommended by my healthcare team for the next 30 days."

5. Weight Monitoring
"I or my caregiver will check and record my weight once weekly for the next 4 weeks and report continued weight loss to my healthcare team."

6. Swallowing Safety
"I will follow the swallowing strategies recommended by my speech-language pathologist during every meal for the next 2 weeks."

7. Nutrition Follow-Up
"I will schedule my recommended dietitian appointment by ___ because I have been losing weight or having difficulty eating."

8. Mood Monitoring
"I will tell my caregiver or healthcare team if I develop new or worsening depression, hopelessness, or thoughts of self-harm during the next 30 days."

9. Structured Routine
"I or my caregiver will use a written daily schedule for medications, meals, and appointments at least 5 days per week for the next 4 weeks."

10. Physical Therapy
"I will complete the exercises recommended by my physical therapist ___ days per week for the next 4 weeks."

11. Driving Safety
"I will discuss my current driving safety with my neurologist or healthcare provider at my next appointment."

12. Caregiver Support
"My caregiver will identify at least one additional respite, home-care, social-work, or Huntington's disease support resource within the next 30 days."

13. Advance Care Planning
"I will discuss my healthcare decision-maker and advance-care-planning preferences with my family and healthcare team within the next 30 days."

14. Medication Safety
"My caregiver and I will review my complete prescription, OTC, and supplement list with my healthcare provider at my next appointment."

Sources:

⚠️ Medical Disclaimer

This resource is provided for educational and informational purposes only and is not intended to replace professional medical advice, diagnosis, or treatment. The information presented is general in nature and may not apply to every individual or health situation.

Individuals should consult their physician or other qualified healthcare professional for personalized medical advice, diagnosis, or treatment recommendations related to their specific health conditions and should not begin any new exercise program or change their diet or medications without consulting their healthcare professional.

Call 911 if you are experiencing a medical emergency.