Huntington’s disease: Symptoms, causes, and treatment

Huntington’s disease is an incurable, hereditary brain disorder. It is a devastating disease that causes damage to brain cells, or neurons.

It happens when a faulty gene causes toxic proteins to collect in the brain.

Huntington’s disease (HD) affects one person in every 10,000, or around 30,000 people in the United States. Another 150,000 or more people are at risk of developing the condition.

The first signs normally appear between the ages of 30 and 50 years.

Fast facts about Huntington’s disease

Huntington’s disease (HD) is an inherited disease that attacks nerve cells gradually over time.

The disease happens when a faulty gene makes an abnormal version of the huntingtin protein.

Early symptoms may include mood swings, clumsiness, and unusual behavior.

During the later stages of the disease, choking becomes a major concern.

There is currently no cure, but medications may help relieve symptoms.

What is Huntington’s?

Huntington’s disease (HD) is a neurological condition. It is an inherited disease that happens due to faulty genes. Toxic proteins collect in the brain and cause damage, leading to neurological symptoms.

As parts of the brain deteriorate, this affects movement, behavior, and cognition. It becomes harder to walk, think, reason, swallow, and talk. Eventually, the person will need full-time care. The complications are usually fatal.

There is currently no cure, but treatment can help with symptoms.

Symptoms

woman thinking
Huntington’s usually starts between the ages of 30 and 50 years. Changes in mood and thinking can be an early sign.

Signs and symptoms are most likely to appear between the ages of 30 and 50 years, but they can occur at any age. They tend to worsen over 10 to 20 years.

Eventually the Huntington’s disease or its complications are fatal.

According to the Huntington’s Disease Society of America (HDSA), the symptoms of HD can feel like having amyotrophic lateral sclerosis (ALS), Parkinson’s and Alzheimer’s all in one.

The key symptoms include:

personality changes, mood swings, and depression

problems with memory and judgment

unsteady walk and uncontrollable movements

difficulty speaking and swallowing, and weight loss

How signs and symptoms evolve can vary between individuals. In some people, depression occurs before motor skills are affected. Mood swings and unusual behavior are common early signs.

Early signs and symptoms

Early symptoms may not be recognized if HD has not previously occurred in the family. It can take a long time to reach a diagnosis.

Initial signs and symptoms include:

slight uncontrollable movements

small changes in coordination and clumsiness

stumbling

slight signs of mood and emotional change

lack of focus, slight concentration problems, and difficulty functioning, for example, at work

lapses in short-term memory

depression

irritability

The person may lose motivation and focus, and appear lethargic and lacking in initiative.

Other possible signs of HD may include stumbling, dropping things, and forgetting people’s names. However, most people do these from time to time.

The middle and later stages

In time, symptoms become more severe.

These include physical changes, loss of motion control, and emotional and cognitive changes.

Physical changes

The person may experience:

difficulty speaking, including looking for words and slurring

weight loss, leading to weakness

difficulty eating and swallowing, as the muscles in the mouth and diaphragm may not work properly

risk of choking, especially in the later stages

uncontrollable movements

There may be uncontrollable body movements, including:

uncontrollable movements of the face

jerking of parts of the face and the head

flicking or fidgety movements of the arms, legs, and body

lurching and stumbling

As HD progresses, the uncontrollable movements occur more often and with usually with more intensity. Eventually they may become slower as the muscles become more rigid.

Emotional changes

These may alternate rather than occurring consistently.

They include:

aggression

anger

antisocial behavior

apathy

depression

excitement

frustration

lack of emotion becomes more apparent

moodiness

stubbornness

cognitive changes

There may be:

a loss of initiative

a loss of organizational skills

disorientation

difficulty focusing

problems with multitasking

The later stage

Eventually, the person will no longer be able to walk or talk, and they will need full nursing care.

However, they will usually understand most of what is being said and will be aware of friends and family members.

What to know about Parkinson's dementiaWhat to know about Parkinson’s dementia
Find out about Parkinson’s dementia, another neurologial condition
Read now

Thank you for supporting Medical News Today

Complications

The inability to do things that used to be easy can lead to frustration and depression.

Weight loss can make the symptoms worse and weaken the patient’s immune system, making them more vulnerable to infections and other complications.

HD itself is not usually fatal, but choking, pneumonia or another infection can be.

Throughout all stages, it is important to adjust the patient’s diet to ensure adequate food intake.

Causes

HD is caused by a faulty gene (mhTT) on chromosome number 4.

A normal copy of the gene produces huntingtin, a protein. The faulty gene is larger than it should be. This leads to excessive production of cytosine, adenine, and guanine (CAG), the building blocks of DNA. Normally, CAG repeats between 10 and 35 times, but in HD, it repeats from 36 to 120 times. If it repeats 40 times or more, symptoms are likely.

Leave a Reply

Your email address will not be published. Required fields are marked *