A Brief Overview of Huntington’s Disease

Symptoms

Huntington’s disease where the mental ability of the individual gets affected is a genetic disorder. It is characterized by neurodegeneration that leads to a gradual loss of neurons. Uncoordinated body movement, degradation in the reasoning ability, and memory loss are other common symptoms of this disease.

It is named after George Huntington, who conducted extensive research to give a more accurate description of this disorder. A dominant mutation in the Huntington gene causes this disease which belongs to the noncurable category. Proper treatment can only alleviate the problem and make it more manageable.

The onset of Huntington’s disease usually takes place after the age of 30 years. However, a patient having a family history of this ailment may show signs even before 20 years of age. The symptoms of Huntington’s disease include:

  • Initial stage – In the beginning, there can be slight uncoordinated movements, decreased cognitive ability, aggression, and depression. A person may make mistakes while performing even the simplest of tasks. This stage often gets ignored due to lack of awareness.
  • Intermediate stage – By the time the individual finds out abnormalities in his behavior, the disease reaches the second stage. The symptoms get aggravated and include involuntary actions (chorea), sleep disorders, and distorted speech. Trouble in swallowing may also be experienced.
  • Final stage – This stage is marked by complete dependence on caretakers. Acute weight loss, inability to speak, difficulty in comprehending the situation, and seizures are some of the symptoms in this stage. A person may also suffer from severe memory loss.

It is extremely important to diagnose Huntington’s disease before it reaches the final stage. The following methods may be used to diagnose Huntington’s disease:

  • Physical examination – It helps in gauging the outset of the disease through a thorough examination of the abnormalities in physical behavior such as chorea. CT scan and MRI may be used for the same.
  • Genetic testing – This is performed on individuals who are more likely to encounter this disease. It is done much before the actual symptoms occur to determine whether an individual runs the chance of developing them in the future.\
  • Prenatal testing – Prenatal testing helps in discovering any possible chance of the womb inheriting the typical mutated gene. This is mostly done in cases where at least one of the parents is affected or has a 50% probability of being affected with this disease. Counseling may be provided to parents whose offspring are at a risk of developing Huntington’s disease. They are informed about the difficulties involved in raising the child. They may also be advised to go ahead for abortion if the condition is extremely grave.

Most of the individuals are not in favor of these tests. Since these are probabilistic, they feel that these tests affect their peace of mind and give them undue stress. There are only a handful of persons who undergo these tests. Also, the success of these tests is marred by ethical issues such as confidentiality of reports, consent of the child, etc.

As said earlier, Huntington’s disease has no cure. Many therapies and medicines exist in the market that can lessen the impact of Huntington’s disease:

  • Medication – Medicines can only be used to mitigate the symptoms. Tetrabenazine is the most common medicine given for uncontrolled body movements. It has been clinically approved but has a few side effects. Mirtazapine may be used for depression and Lithobid for aggression.
  • Rehabilitation – A physiotherapist can be hired to strengthen muscle movements. Walking with support and limited stretching may be prescribed. He may also direct certain exercises to improve cognitive behavior.
  • Therapy – Speech therapy helps in improving the verbal language. A new therapy called the gene therapy is also being researched on. If successful, it can prove to be a breakthrough in this area. Also, therapies for boosting the antioxidant defense mechanism may control exacerbation of Huntington’s disease.
  • Food – Since swallowing is a major problem with a patient suffering from Huntington’s disease, he may be provided with a feeding tube. It helps in supplying the necessary nutrients directly through the stomach. This can also eliminate the chances of choking.
  • Awareness – It is important to be aware of the symptoms of this disease. An individual should not be afraid of undergoing the different tests necessary to detect the disease. These would help him in altering his lifestyle for the better and take timely precautions. He can also get his doubts cleared through proper genetic counseling. A step taken in the right direction will go a long way in maintaining good health.

Huntington’s disease may be followed by serious ailments such as pulmonary and cardiovascular diseases. Severe health complexities coupled with non-curability increase the risk of suicide among patients. Their caretakers have a very important role to play in this regard. They should provide them the necessary strength and motivation to keep suicidal thoughts at bay.

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