What is Huntington’s Disease? A Look At The 5 Stages

Written by Ally Streelman

NowRx Pharmacy

mri of huntington's disease

Huntington’s disease is a rare neurodegenerative disorder that can progress quickly and render someone unable to live, move, or act on their own. It affects roughly 40,000 Americans, and many affected people go undiagnosed each year.

Here we will take a look at questions about the condition including what is Huntington’s disease, it’s symptoms, and how it progresses in stages.

What is Huntington’s Disease

Huntington’s disease is a progressive genetic disorder that affects various areas of the brain. It is caused by a mutation in the HTT gene, which is responsible for making a brain protein called huntingtin.

Although the exact function of huntingtin is not well understood, it seems to have an important role in nerve cells in the brain. However, it is found in many of the body’s tissues in addition to the brain.

Some studies suggest that it plays a role in repairing damaged DNA.

Symptoms of Huntington’s Disease

Over time, mutation of the HTT gene causes degeneration of neurons in various areas of the brain resulting in a variety of symptoms. These symptoms may include uncontrolled movements, impaired coordination, changes in behavior, emotion, judgment, cognition, and more.

In addition, because it is a progressive disorder, symptoms become worse and additional symptoms will develop over time. Eventually, the disease progresses to the point of dementia, spasticity, and incontinence.

At the moment there is no cure or treatment available to slow, stop, or reverse the course of the disease.

How Is Huntington’s Disease Diagnosed

Huntington’s disease is typically diagnosed between the ages of 30 and 50. However, early onset or juvenile HD can affect people under 20.

To diagnose the disease, doctors will perform a genetic test, a medical history, brain imaging, and neurological and laboratory tests. The direct genetic test counts the number of CAG repeats in the huntingtin gene to determine if someone has a mutated huntingtin gene or not.

If the gene for Huntington’s is present, a person will eventually develop the disease. 

What is the first sign of Huntington’s disease?

The first signs of Hungtington’s disease vary from person to person but usually include involuntary movements and can include behavioral or cognitive changes.

Behavioral changes could include mood swings, irritability, social avoidance, inactivity, depression, or anger. Cognitive changes might entail trouble problem-solving, organizing, learning new things, or decision-making. Someone with HD may also have mild clumsiness or problems with balance early on. 

You should talk to a doctor right away if you or a family member experience symptoms of HD.

What Are The 5 stages of Huntington’s Disease

People with Huntington’s disease will progress through multiple stages of the disorder. These include early, middle, and late stages, which are defined by the severity and progression of symptoms.

The length of these stages varies from person to person. One stage may last only a few years for some, while it lasts more than five years for others.

Stage 1

The onset of early symptoms defines stage I of Hungtington’s disease. These may include minor involuntary movements, subtle loss of coordination, difficulty thinking through complex problems, and some behavioral differences, such as depression and irritability. However, patients at this stage are still able to live independently, managing work, finances, and other regular activities. 

Stage 2

During stage II of Huntington’s disease, symptoms typically progress to the point where a person with HD is unable to work and requires some assistance, but can still function mostly independently.

They may also experience more pronounced behavioral problems, sexual problems, and paranoia, which typically occur in years 6-10 after the onset of symptoms.

Stage 3

In the middle stage or stage III of Hungtington’s disease, individuals will likely experience much more difficulty with cognitive tasks and movement.

They lose the ability to drive, work, and manage complex tasks, such as finances, and typically experience more pronounced uncontrolled movements (chorea). 

Stage 4

Stage IV of Huntington’s disease typically occurs at least 9 years after the onset of symptoms. During this stage, people may experience delusions and hallucinations, intellectual decline, and memory loss.

Movements at this stage may be highly uncontrollable or extremely rigid, a condition called akinesia. Affected individuals will require major assistance and may need to be placed in an extended care facility.

Stage 5

During late-stage Huntington’s disease, or stage V, individuals experience speech difficulty, weight loss, and loss of bowel and bladder control. They will have dementia and severe limitations in voluntary movement and will be fully dependent on assistance.

While Huntington’s disease itself is not fatal, it can cause patients to fall, leading to injury. Injuries from falls and infections are the most common causes of death among those with HD.  

Huntington’s Disease Treatment

There is currently no treatment for Huntington’s disease. However, there are drugs that may be prescribed to treat the symptoms. These include tetrabenazine and deuterabenazine to treat chorea, antipsychotics, and antidepressants. After being diagnosed, the disease typically progresses over the course of 10-30 years. 

If you or a family member have questions about Huntington’s disease, talk with your primary care physician. Resources are available and your primary care physician will be able to point you in the right direction for addition information and care.

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