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Huntington Disease

Approximately10,000 Americans have Huntington Disease. It has several devastating effects on the life of the patient and their children have a 50/50 chance of inheriting the gene which results to this condition.

Huntington Disease Historical Definition

Huntington Disease is a rare degenerative brain disorder which there is no cure yet discovered. It was named after Dr. George Huntington who first described this type of hereditary abnormality. It mostly affects the muscle coordination of patients and which may also lead to dementia or cognitive decline due to the early deterioration of particular neurons of the brain.

Huntington Disease

Source : wikipedia

Huntington Disease Facts

Since this condition is quite mysterious in the eyes of many, there are several myths associated with Huntington Disease. However, the following information is the factual matters associated with this disease.

  • Huntington Disease does not solely affect the male community. Even women can be genetically born with it.
  • There are three variants of this disease namely Juvenile Huntington Disease, Juvenile Akinetic-Rigid Huntington Disease,and Westphal Variant Huntington Disease.
  • The belief that Huntington Disease can skip from one generation to another is a myth but it is possible for a person to die early without knowing if he or she has inherited Huntington Disease gene mutation.
  • There is no permanent cure for Huntington Disease but there are several treatments for it’s the Huntington Disease Symptoms.

Who gets Inherited with Huntington Disease

As Huntington Disease is solely a genetic neurodegenerative disorder, people who have a family history of this disease are more susceptible to get inherited. Huntington Disease is inherited in an autosomal dominant pattern.

Autosomes are the genes within the cells other than the sex chromosomes X and Y. The chromosomes carry the body’s genetic information in the form of DNA. Each child gets genetic patterns from parents; 23 pair of chromosomes from the mother and 23 from the father. Huntington Disease can be inherited from father and mother. The chances of passing the disease from parents to child are 50%.

Huntington Disease Symptoms

The following characteristics are the most common symptoms of Huntington Disease

Behavioral Aspect

The patient experiences anxiety, irritability, social withdrawal, aggressive outbursts, depression and mood swings. Suicidal tendency is common in patients with Huntington disease. Loss of appetite leading to gradual weight loss is another Huntington Disease symptom..

Body-Motor Aspect

The patient experiences uncoordination, fidgety behavior, involuntary movements and difficulties in swallowing, speech, balance and walking. The affected person may experience sudden jerking movements of limbs and trunk. The person will not have control on these involuntary movements. He may also experience rapid eye movements and difficulty in lateral vision.

Cognitive Aspect

The patient experiences organizing, concentrating, coping and retaining short memories.

As earlier mentioned, one of the main causes of this condition is Huntington Disease inherited genes. Ordinarily, parents who is suffering from this condition or have a history of Huntington Disease has a 50% of chance that his or her children will share the same fate. Otherwise, if the parent failed to transfer this Huntington Disease inherited gene to his or her child then the child cannot pass it on the next generation. The disease can only be inherited through direct lineage of the disorder.

Presently, over two hundred thousand (200,000) Americans are at risk of developing this condition.

Huntington Disease Effects

After inheriting the disease, the individual may have ten to 20 years average lifespan. However, researchers discovered that patients who happen to inherit this condition experience a more rapid progression of this disease.

Huntington Disease Treatment

There is only one FDA approved treatment in the market for it and an ongoing Huntington Disease research is being done by several scientists, pharmacologists, drug manufacturers and medical practitioners to discover a safe and effective remedy for this condition.

Huntington Disease Researches

It was the year 1993 when the gene that causes Huntington Disease was discovered. Since then, much information was added to the better understanding of this condition. Continuous efforts both from the government and the private sectors are being done in order to find a treatment of Huntington Disease.

The group of researcher remains focused on the development of effective therapies which may slow down the progression of this disorder as well as delaying the onset of Huntington Disease. However, the ultimate goal of these scientific studies is to find a cure that will effectively eliminate this kind of disease in the body.

Diagnosis of Huntington Disease

The doctor performs a thorough physical examination and asks a few questions about the patient’s medical and family history. A neurologic examination will be done to check for dementia, abnormal reflexes and hesitant speech. Other tests include MRI of head and PET scan of the brain.

Huntington Disease Genetic Testing

Individuals who are suspected to have Huntington Disease are evaluated through genetic testing. In this process, blood is taken from the patient so it can further be analyzed in the laboratory.

At present, there is no state law or federal which orders individuals to undergo Huntington Disease Genetic Testing but doctors recommend that individuals below eighteen years of age undergo with this type of test especially if one of their parents have suffered similar conditions. In this manner, medical doctors can provide them a few therapeutic options which may effectively halt the onset of this condition.

Social and Legal Impact of Huntington Disease Genetic Testing

The idea of Huntington Disease Genetic Testing has raised several social and legal issues. It is for a fact that Huntington Disease is a degenerative disorder that has no cure yet as of the moment. Thus, pregnant mothers who suffer from this condition has the freedom to request that her baby or even the fetus undergo Huntington Disease Genetic Testing to see if the child have higher risks of developing similar symptoms like her. But what will happen if the parents find out that their child shares similar fate with one of them? Thus this approve of abortion? Will the law allow them to discard the baby so it will not suffer similar fate like theirs?

Another hot topic with regards to this is the issue of confidentiality. Companies are required by law to have their employees undergo yearly medical check-up. If Huntington Disease Genetic Testing will be requested by the employer, does it give them the right to own the results of their employees or will it ensure confidentiality? Does it safeguard individuals that their medical records will not be submitted directly to their employer after they have undergone a complete medical check-up?

Other issues have risen due to the talks for genetic testing. However, the focus of attention should not be shifted on the legal and social talks with regards to Huntington Disease but with the manner on how it can be treated.

References


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