Huntington’s disease: Everything you need to know
Published 16 Jan 2025 • By Somya Pokharna
Huntington’s disease is a rare, inherited brain disorder that progressively affects a person’s physical abilities, mental function, and emotional stability. Over time, this devastating condition leads to a decline in how a person moves, thinks, and feels, taking away their ability to function independently. There is currently no cure, but treatments can help manage symptoms and improve quality of life.
What is Huntington’s disease caused by? What are its signs and symptoms? And what can be done to manage life with Huntington’s?
This article aims to answer these important questions.
What causes Huntington’s disease?
Huntington’s disease (HD) is caused by a genetic mutation in the HTT gene. This gene provides instructions for making a protein called huntingtin, which plays a role in nerve cell function in the brain. In people with HD, a section of the gene repeats more times than it should. This leads to the production of abnormal huntingtin protein, which damages brain cells over time.
HD is passed from parent to child in what’s called an autosomal dominant pattern. This means if one parent has the defective gene, their child has a 50% chance of inheriting it. In rare cases, the gene mutation can appear even when there is no family history of the disease.
What are the signs and symptoms of Huntington’s disease?
Symptoms of Huntington’s disease usually appear between the ages of 30 and 50, but they can develop earlier or later. When symptoms appear before age 20, the condition is called juvenile Huntington’s disease (JHD).
The disease affects three main areas: movement, thinking, and emotions/behaviour.
In the early stages, symptoms may be subtle. A person might seem a little more clumsy, forgetful, or irritable. Over time, these symptoms worsen and become more noticeable.
Movement symptoms
At first, a person may notice slight uncontrolled movements, such as small twitches or fidgeting. These movements often worsen and become more pronounced, leading to jerking, twisting, and muscle contractions known as chorea. Walking may become unsteady, and balance problems can increase the risk of falls. In later stages, muscles may become rigid or stiff, making it harder to move.
Swallowing and speaking may also become difficult as the disease progresses, and weight loss is common.
In juvenile HD, movement symptoms may resemble those of Parkinson’s disease, with stiffness and slower movements rather than chorea. Seizures are also more common in younger patients.
Cognitive symptoms
Memory loss, trouble focusing, and difficulty making decisions are common signs. Tasks that require planning or organizing may become challenging. As the disease advances, people may struggle to remember familiar faces or routines and may need help with daily activities.
Emotional and psychiatric symptoms
People with HD often experience changes in mood and behaviour. They may become depressed, anxious, or irritable. Some may have outbursts of anger or frustration. In severe cases, hallucinations or delusions can occur, although this is less common.
How is Huntington’s disease diagnosed?
Diagnosing Huntington’s disease usually begins with a physical and neurological exam by a doctor. The doctor will ask about symptoms and family history and look for signs like involuntary movements or muscle stiffness.
Genetic testing is the most reliable way to confirm HD. A blood sample can show if someone carries the gene mutation responsible for the disease. Testing is also available for asymptomatic individuals with a family history of HD who wish to know if they carry the mutation, but not everyone chooses to be tested. Genetic counseling is often recommended for people considering genetic testing.
Brain scans, such as MRI or CT scans, may help doctors see changes in the brain. However, these changes often appear later in the disease, so scans are typically used to support a diagnosis rather than confirm it.
What treatments are available for Huntington’s disease?
While there is no cure for Huntington’s disease, treatment can help manage symptoms and improve quality of life.
Doctors often prescribe and adjust medications as the disease progresses to ensure symptoms remain as manageable as possible.
- Tetrabenazine and deutetrabenazine are the most commonly used drugs to reduce chorea, or jerky, involuntary movements.
- In juvenile HD, drugs used to treat Parkinson’s disease may help with stiffness, rigidity, and slow movements.
- Antidepressants, antipsychotics, and mood stabilizers can help manage depression, anxiety, and agitation.
Physical therapy can improve balance, coordination, and strength, reducing the risk of falls, while speech therapy can help with communication and swallowing difficulties. Occupational therapy focuses on making daily tasks easier and adapting the home environment for safety and accessibility.
Eating may become difficult as swallowing muscles weaken. Thickened liquids and soft foods can make swallowing safer. In advanced stages, a feeding tube may be recommended to prevent choking and ensure proper nutrition.
What is the prognosis and life expectancy with Huntington’s disease?
Huntington’s disease is a progressive condition, meaning symptoms worsen over time. On average, people live for 10 to 30 years after symptoms begin. In juvenile HD, the disease tends to progress more quickly, with a life expectancy of around 10 years after onset.
Most people with HD eventually lose the ability to walk, speak, and care for themselves. Pneumonia, heart disease, and injuries from falls are common causes of death. Suicide is also a risk, particularly in the early and middle stages, when people are more aware of their declining health.
Despite the challenges, supportive care and treatment can help people maintain their independence and quality of life for as long as possible.
Is there any hope for the future?
Research into Huntington’s disease is ongoing. Scientists are working on gene therapies and medications that may slow or stop the disease. Clinical trials are testing drugs that target the abnormal huntingtin protein, aiming to reduce its harmful effects on brain cells.
Support organizations and advocacy groups continue to raise awareness, fund research, and provide resources for patients and families. For those affected by HD, staying informed and seeking support can make a great difference in their journey with the disease.
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