What is Huntington’s Disease?

Learn about Huntington's disease, a progressive genetic disorder that affects brain cells, causing motor dysfunction, cognitive decline, and psychiatric symptoms, impacting both patients and caregivers.
Published on
June 4, 2024
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Huntington's disease is a complex and devastating condition that affects not only the individual diagnosed but also their entire family. Understanding this progressive genetic disorder is crucial for caregivers and loved ones who face the daily challenges it brings. In this article, we delve into the intricacies of Huntington's disease, from its history and genetic basis to the symptoms, treatment options, and the impact on family caregivers.

What is Huntington's disease?

Huntington's disease is a progressive genetic disorder that causes the degeneration of brain cells, leading to motor dysfunction, cognitive decline, and psychiatric symptoms. It typically appears in middle adulthood and worsens over time, affecting an individual's ability to move, think, and regulate emotions.

Huntington's disease is an autosomal dominant disorder, meaning inheriting a faulty gene from one parent is enough to develop the disease. This family history casts a long shadow over families, with children of someone with HD having a 50% chance of inheriting the condition.

The history of Huntington's disease

Huntington's disease was first described in 1872 by George Huntington, a recent graduate of Columbia University Medical School in New York City. Huntington's father (also named George Huntington) and grandfather (Abel Huntington) were also physicians and observed involuntary shaking in some of their patients with a disease called "St. Vitus Dance." These patients displayed a characteristic triad of symptoms: uncontrollable movements (chorea), emotional disturbances, and cognitive decline.

George Huntington wrote a paper titled "On Chorea" about hereditary chorea, published in the Medical and Surgical Reporter of Philadelphia in 1872. This paper was not the first written about the subject but stood out as the most comprehensive. It played an important role in defining the clinical entity that soon became known as 'Huntington's chorea.'

By the late 1960s, Huntington's chorea became known as 'Huntington's disease' because not everyone who suffers from the condition experiences chorea. Chorea is a symptom that causes involuntary, random, and unpredictable muscle movements. It is one symptom of Huntington's disease, but it has other potential causes, too.

Genetics and Huntington's disease

Huntington's disease (HD) is a dominant genetic disorder. A single copy of the abnormal gene is sufficient to cause the disease, meaning each child of a parent with the disease has a fifty-fifty chance of developing it. About one in ten thousand people develop the disease.

Genetic mutations

The gene mutation responsible for Huntington's disease leads to an abnormally long expansion of amino acids in the huntingtin protein (Htt), which causes devastating neurodegenerative effects. Effectively, you can imagine a typo repeated many times—that's what happens in the huntingtin protein.

Scientists are still working to understand the huntingtin protein's specific functions fully, but we know that it plays a vital role in brain function.

Genetic testing

While no cure exists for Huntington's disease, genetic testing can provide valuable information. In almost all cases, a blood test can determine whether a person has the HD gene. However, genetic testing does not predict when symptoms will begin or the prognosis of the disease.

There are four categories of genetic testing:

  • Presymptomatic testing is for people with a family history of HD who show no symptoms.
  • Confirmatory testing determines whether a person showing possible HD symptoms actually has the HD gene.
  • Prenatal testing, using amniocentesis or chorionic villus sampling (CVS), determines whether a fetus has the HD gene.
  • Prenatal genetic diagnosis utilizes in vitro fertilization.
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Signs and symptoms of Huntington's disease

The onset of symptoms is usually in people 30-50 years old. Nerve cells in parts of the basal ganglia in the brain start to degenerate. The basal ganglia are collections of nerve cells that help smooth out and coordinate movements—degeneration in this area of the brain results in uncontrolled movements and cognitive and behavioral problems.

Early signs of the disease can easily be mistaken for the stresses of life; patients may feel irritable, depressed, anxious, or aggressive. Mental processing and decision-making may be challenging. Other early disease symptoms may include involuntary movements, mild clumsiness, or balance problems.

However, as the disease progresses, patients require major assistance with the activities of daily life, and many become unable to communicate.

  • Motor symptoms and involuntary movements: Involuntary movements called chorea take center stage. Imagine jerky, unpredictable twitches and writhing that affect the face, limbs, and torso. These movements can be constant or flare up unexpectedly, making even simple actions like walking or writing a struggle.
  • Cognitive symptoms and psychiatric symptoms: HD doesn't stop at the physical. It casts a shadow on thinking and emotions as well. Once vivid memories become hazy, planning or organizing daily tasks becomes daunting. Learning anything new feels like climbing a mountain; frustration can easily set in.
  • Behavioral symptoms: The emotional landscape can shift, too. Depression, anxiety, and irritability can become unwelcome companions. Outbursts of anger or inappropriate behavior, once unthinkable, may surface.
  • Daily life and quality of life: Daily activities that were once enjoyed become difficult or even impossible. Maintaining independence becomes a fight against the relentless tide of the disease. The risk of suicide increases. But even in the face of these challenges, the love and support of family and caregivers becomes a lifeline. 

Prognosis and treatment options for Huntington's disease

The prognosis of Huntington's disease is generally poor, as it is a progressive and fatal disorder. Symptoms typically begin between 30 and 50 and worsen over 10 to 25 years. Most people with Huntington's disease eventually require full-time care and support, and the disease usually leads to death within 15 to 20 years of symptom onset.

While there is no cure, there are still effective options to manage symptoms and improve quality of life.

Medications

Medications like haloperidol, tetrabenazine, and amantadine may help control the involuntary movements caused by Huntington's disease. Haloperidol and tetrabenazine may also help with hallucinations and delusional thoughts.

Many people with Huntington's disease experience depression and suicide, so antidepressants and antianxiety medications may help to treat these symptoms.

Therapies

Therapy assists your loved one in maintaining independence. Working with a physical therapist or occupational therapist can help with movement, daily tasks like dressing or bathing, and swallowing difficulties. Speech therapy is beneficial in cases where communication becomes affected.

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Research and clinical trials

Research into Huntington's disease is ongoing, with promising new treatments on the horizon. These advancements may slow the progression of the disease or provide more effective symptom management.

Several drugs have entered the Huntington's disease research pipeline, which involves several stages:

  • Preclinical research involves learning about the disease, identifying targets for treatment, and testing promising solutions on Petrie cells, fruit flies, and mice.
  • Clinical trials: If a drug appears ready to be tested on human patients, it goes through three phases of clinical trials. Phase 1 tests safety. Phase 2 tests the drug's effects on the body. Phase 3 tests whether the drug improves symptoms. The FDA only approves drugs for human use that pass all three phases, indicating that the drug is safe, well-tolerated, and effective.
  • Observational trials: These trials are not about testing a drug but instead observing those with HD to understand the disease better so that future drug trials can be even more effective. HD family members can volunteer to participate in an observational trial like Enroll-HD.  

The research pipeline isn't always linear, and many types of Huntington's research are going on simultaneously. More than two dozen drugs and supplements are actively moving through the pipeline, and dozens of others have been nominated for consideration.

See what therapies are currently moving through the pipeline >>

Impact on family caregivers

Families and caregivers face a rollercoaster of emotions—grief, fear, and guilt are common. Witnessing a loved one decline is incredibly difficult.

Providing care for someone with HD demands time, energy, and finances. Physical needs increase, and emotional outbursts can be unpredictable. Balancing caregiving with daily life is overwhelming. Caregiver burnout happens often. Eventually, your loved one will need 24-hour care. 

Many patients and family members experience severe mental health issues as the disease progresses. End-of-life decisions should be made with your loved one so you will do what they wish when that time comes. 

A note from Givers

Caring for a loved one with Huntington's disease can be incredibly challenging. We understand the emotional and physical toll it takes on caregivers. You might be eligible to receive compensation for the care you provide through a Medicaid waiver with participant-direction. These programs empower Medicaid recipients to choose their caregivers, including family members, ensuring that care comes from trusted individuals. To find a program for which you might be eligible, please fill out this form or contact us for more information.

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