Huntington’s Disease Cause and Symptoms
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
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.
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
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.
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© 2018 Pamela Oglesby