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Huntington’s Disease Cause and Symptoms

Updated on September 2, 2018
Pamela99 profile image

After 22 years as an RN, I now write about medical issues and new medical advances. Diet, exercise, treatment, and lifestyle are important.

Brain

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Huntington Disease Overview

Symptoms may include problems with movement or balance, cognitive problems and mental health issues having a broad spectrum of signs and symptoms. There are medications for treatment, and there is now a diagnostic test available to diagnose this disease.

This disease affects affects between 5-10 people per 100,000 worldwide. Apparently it affects more white people than Asians or blacks. The brain is most affected by a group of nerve cells located at the base of the brain, which is known as the basal ganglia. This area is responsible to organizing the muscle-driven body movements (called motor movements).

Blueprint of Huntington’s Disease

Huntington’s disease is inherited with one gene, which is an autosomal dominant mutation. According to the NIH, “Huntington’s disease (HD) is a progressive autosomal-dominant neurodegenerative disorder caused by 36 or more trinucleotide (CAG) repeats on the short arm of chromosome.” To simplify this description, you just remember this is an inherited disorder due to an abnormal gene.

So, if one parent has this gene a child has a 50% chance of inheriting this genetic disorder. It does not matter if you male or female, the risk is the same.

Usually, this disease causes symptoms for patients in their 30s or 40s. However, the disease can occur earlier, and if someone develops this disease under the age of 20 it is called juvenile Huntington’s disease.

Huntingtin's Disease Abnormal Neuron

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Juvenile Huntington’s Disease

Juvenile Huntington’s disease tends to cause slightly different symptoms and a faster progression of the disease. The defective gene is called causes changes in the brain. Involuntary movements, depression and other mood changes may also occur

Performance in school declines. As the disease progresses the child will exhibit clumsiness, rigidity, frequent falling, slurred speech and drooling. Seizure also a problem in 30% to 50% of these children. As this disease progresses more quickly in children, they only live from 10 to 15 years after the symptoms occur.

Living with Juvenile Huntington's Disease

Earliest Symptoms of Huntington’s Disease

The initial symptoms may include:

  • Excessive restlessness
  • Various forms of nervous activity, which may be fidgeting, some twitching in the fingers and toes
  • Small involuntary movements
  • Extremely restlessness
  • Irritability or depression
  • Some degree of clumsiness
  • Poor coordination
  • Minor alterations in handwriting
  • Difficulty in learning new information
  • Some difficulty with normal daily physical skills, such as driving

If a person is experiencing one or more of these symptoms, it would be a good idea to see your family doctor. Of course, this is especially true is you know this disease runs in your family.

Brain DNA

Source

Symptoms of the Disease

Uncontrolled movement of the legs. arms, head, face or upper body are hallmark signs of this disease. Additionally, a decline in reasoning skills, or a decline in thinking may occur. Memory, concentration, ability to plan and organize, plus judgment may be effected. The symptoms that initially occur vary among individuals.

Huntington's disease usually causes movement, cognitive and psychiatric disorders with a wide spectrum of signs and symptoms. Cognition is your perception, awareness, judgement, thinking and reasoning. These changes are due to a loss of neurons in the brain. Which symptoms appear first varies greatly among affected people. During the course of the disease, some disorders appear to be more dominant or have a greater effect on functional ability.

The changes in the brain can lead to mood alterations, particularly depression, anxiety or irritability or anger without provocation may occur. Obsessive-compulsive behavior, which leads an individual to repeat an activity over and over again, or repeating the same question, also may occur. There is no known way to stop or even slow the brain changes this disease causes.

6 Early Warning Signs of Huntington’s Disease

More Troubling Disease Symptoms

International experts have recommended the following treatments for managing the symptoms for some of the more severe symptoms:

  • Irritability may include severe anger or even threatening behavior, and it is best treated with an atypical antipsychotic drug to treat this behavior. More moderate behaviors that are non-threatening are usually treated with a selective serotonin reuptake inhibitor (SSR), which is an antidepressant.
  • Chorea, which is involuntary movements, is often treated with an atypical antipsychotic drug, like olanzapine. Tetrabenazine is a more recently approved drug (in 2008) to treat this disease.
  • Another problem for many patients is obsessive compulsive actions and thoughts. The SSR’s are also recommended for this psychotic disorder.

Depression, anxiety or insomnia is treated according to accepted guidelines.Dystonia can eventually replace chorea, which means muscle spasms occurring in your arms, shoulders, neck and legs.

Additionally, abnormal postures, twisting and repetitive movements may happen. Eventually the patient’s movements will slow due to stiffness and rigidity in the limbs.

This is a difficult disease to treat, so just symptoms are being treated as there is no specific medication for Huntington’s disease.

Advanced Disease State

People with Huntington’s disease in an advanced undergo a personality change. Eventually these individuals have difficulty speaking, walking or swallowing. Death may occur due to heart disease, pneumonia, aspiration or an injury from a fall. About 9% of the deaths from this disease are due to suicide.

Adult-onset Huntington’s disease patients typically live from 15 to 30 years after the signs and symptoms first appear.

A doctor who cannot take a good history and a patient who cannot give one are in danger of giving and receiving bad treatment. -- Anonymous

In Summary

This is truly a heartbreaking disease. The symptoms are difficult for the patient and for family members. The personality change is very hard for family members to accept.

The fact that there is no medication to actually treat the disease is very difficult to accept for those affected and their family. Hopefully scientist will find a cure, as there is a great deal of research being done.

© 2018 Pamela Oglesby

Comments

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  • Pamela99 profile imageAUTHOR

    Pamela Oglesby 

    19 months ago from Sunny Florida

    Glen, I am sorry to hear about your friend and their adopted daughter. The mental health aspects of this disease are terrible. There is treatment for some of the mental disorders, but this disease affects the whole family.

    Advances in genetic engineering/testing is really the only hope for this horrid disease. Thanks for sharing this situation. I'm sure your friend treasures your support.

  • Glenis Rix profile image

    GlenR 

    19 months ago from UK

    I picked out your article because I needed to know more - my dear friend’s adopted daughter, now in her early forties, suffers from this horrible disease. At the time, the adoption agency didn’t tell the family that the natural mother suffered from it. They only knew that she was in a mental health facility. It has been very difficult for the family to deal with the situation. The daughter chose to be tested whilst at university and then decided to have a hysterectomy. She has managed to live independently until now but has been unable to work for a long time and will soon have to enter a residential care facility. It is heart wrenching. I hope that advances in genetic engineering/testing prior to the decision to have children will one day lead to the disappearance of this awful condition.

  • Pamela99 profile imageAUTHOR

    Pamela Oglesby 

    19 months ago from Sunny Florida

    Hi Audry, I agree with you and hope for a cure. Thanks for your comments.

  • vocalcoach profile image

    Audrey Hunt 

    19 months ago from Idyllwild Ca.

    What a terrible disease! To think that children with Huntington's only live 10 to 15 years after being diagnosed is such a shame. I hope a cure for this malady is on its way soon. Thank you, Pamela, for bringing this infirmity to light.

  • Pamela99 profile imageAUTHOR

    Pamela Oglesby 

    20 months ago from Sunny Florida

    Hi Peggy, It is bad enough that the patient, but it is awful for the family members. Thanks for your comments.

  • Peggy W profile image

    Peggy Woods 

    20 months ago from Houston, Texas

    That is certainly a horrific disease taking a toll on not only the patient but the patient's family as well. Hopefully, a cure will be found.

  • Pamela99 profile imageAUTHOR

    Pamela Oglesby 

    20 months ago from Sunny Florida

    Hi Peg, I hope so too. Thanks for your comments.

  • PegCole17 profile image

    Peg Cole 

    20 months ago from Northeast of Dallas, Texas

    This sounds like a really awful disease. I hope there's a cure someday soon.

  • Pamela99 profile imageAUTHOR

    Pamela Oglesby 

    20 months ago from Sunny Florida

    Hi Linda, That is my wish too. I think it is difficult to cure genetic diseases, but they learn new things everyday. Thanks for your commets.

    Hi Genna, This disease is hearbreaking for everyone in the family. Thanks for your concern, and I appreciate your comments.

  • Genna East profile image

    Genna East 

    20 months ago from Massachusetts, USA

    This is a very well-researched article, and skillfully presented, Pam. It is heartbreaking how this disease can devastate the lives of individuals and their families. I was sorry to learn of your friend's mother's diagnosis. I hope they find a cure.

  • AliciaC profile image

    Linda Crampton 

    20 months ago from British Columbia, Canada

    What a horrible disease. I hope better treatments and a cure are found soon. Thanks for sharing the detailed information, Pamela.

  • Pamela99 profile imageAUTHOR

    Pamela Oglesby 

    20 months ago from Sunny Florida

    Thank you Pop. I appreciate the comment.

  • breakfastpop profile image

    breakfastpop 

    20 months ago

    You've written a very comprehensive review of a tragic disease.

  • Pamela99 profile imageAUTHOR

    Pamela Oglesby 

    20 months ago from Sunny Florida

    Flourish, This is a very unfortunate disease. I know someone who's mother was diagnosed, and she is concerned about her mother and wondering if she will be affected. That is what made me want to do some mre research, and I didn't realized there is no cutre.

    Thanks for your comments

  • FlourishAnyway profile image

    FlourishAnyway 

    20 months ago from USA

    You provided a good review of a most unfortunate disease. It must be very difficult, particularly for those with juvenile forms.

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