This paper sheds light on one of the most important diseases which is Huntington’s disease (HD). It’s widely spread around the world but it’s not commonly known among people. Since science developed and genetics became known, scientists discovered that HD is inherited from one generation to another which have put the scientists with a big challenge to find cure for such disease. In addition, this paper provides information about causes, symptoms, inheritance, treatments & a test for Huntington’s disease.
My aim from this research is to introduce such a disease for people, to make it familiar to them & to prepare them to know how to deal with it once they face it. Huntington’s disease • Introduction:- Diseases are the serious problems that the world is facing, not from nowadays but from the old centuries. Now, scientists have discovered hundreds of diseases, some of them are simple and others are fatal. Also, as the science developed and genetics became known, scientists discovered that many diseases are inherited from one generation to another which have put the scientists with a big challenge to find cure for such diseases.
One of these diseases is called “Huntington’s disease”. •What is Huntington’s disease? Area of the brain damaged by HD (shown in purple) Huntington’s disease is a brain disorder, mainly affecting the brain and spinal cord that destroys cells in the part of the brain that controls movement, emotion, and thought process. This part of the brain is called the basal ganglia. Moreover, Huntington’s disease is a hereditary disease, which means that it is inherited from one generation to another. In 1872, Dr.
Georges Huntington became the first to publish a detailed description of the disease that has become linked with his name. In the past there were many names for Huntington’s disease. One of its earliest names was “Chorea” (uncontrollable movements). Other descriptive names were evolved: “Hereditary chorea” which emphasizes how the disease is passed from parent to child and “Chronic progressive chorea” which shows how the symptoms of the disease worsen over time. Today, physicians are using the simple term “Huntington’s disease” (HD).
In general, the duration of the illness ranges from 10 to 30 years. Country/Region Extrapolated Prevalence Population Estimated Used Lebanon 1133,777,2182 What causes Huntington’s disease? Huntington’s disease is caused by a mutation in a gene on chromosome 4. It is caused by the length of a repeated section of a gene exceeding the normal range. The Huntingtin gene (HTT) normally provides the information to produce Huntingtin protein, but when affected, it produces mutant Huntingtin (mHTT) instead.
THuntingtin Protein that causes problems leading to Huntington’s disease is located on chromosome 4. •Symptoms:- Symptoms of Huntington’s disease occur gradually and can start at any age, but it is more common to show in a person in his mid-forties. The disease is usually recognized when physical symptoms occur, but at this point they are usually accompanied by unrecognized cognitive symptoms which refer to brain processes such as thinking, attention, perception, etc…, and psychiatric ones.
Almost everyone with Huntington’s disease eventually exhibits all physical symptoms, but cognitive and psychiatric symptoms can vary significantly among individuals. -Physical Symptoms:- The most characteristic physical symptoms are jerky, random, and chorea (uncontrollable movements). As the disease progresses, any function that requires muscle control is affected, causing physical instability, abnormal facial expression, difficulties in chewing, swallowing, and eating difficulties which commonly cause weight loss and may lead to malnutrition.
Also, it can lead to sleep cycle disturbances, including insomnia, which means difficulty in falling or staying asleep, and rapid eye movement. HD in children and young adults results more in very slow movements, stiffness and seizure which is an uncontrolled electrical activity in the brain. – Cognitive Symptoms:- Cognitive problems including planning, cognitive flexibility, abstract thinking, initiating appropriate actions and inhibiting inappropriate actions. Psychomotor function which controls muscles, perception skills that have relation with senses, are also affected.
As the disease progresses, memory loss occurs in a range from short term memory loss to long term memory loss. In some cases, memories of the individual’s life are altered or forgotten. – Psychiatric Symptoms:- Psychiatric symptoms can vary from anxiety, depression, a reduced display of emotions, aggression, and obsession, which can cause or worsen addictions, including alcoholism and hyper sexuality. Difficulties in recognizing other people’s negative expressions have also been observed.
The earlier the symptoms appear, the faster the disease progresses. But as symptoms progress complications that reduce life expectancy increase. •Inheritance of HD:- Huntington’s disease is inherited in an autosomal dominant pattern. This means that every child born to a person, who has HD, regardless of gender, has a 50% chance of inheriting the gene that causes HD. Men and women are equally affected, so that either parent may pass on the HD gene to any offspring. But it is important to mention that Huntington’s disease is not fatal.
•Test for Huntington’s disease:- If you do not have symptoms of Huntington’s you can get a genetic screening, but this is usually not necessary if the symptoms of the disease are present and you are genetically at risk. Screening for Huntington’s disease consists of administering this genetic test to people who do not have symptoms of the disease. Using a blood sample, the Huntington’s disease genetic test analyzes DNA for the Huntington’s disease mutation by counting the number of CAG repeats in the Huntingtin gene.
Individuals who do not have HD usually have 28 or fewer repeats; people with Huntington’s disease usually have 40 or more repeats. Resulting disease status, depends on the number of CAG repeats Repeats countClassificationDisease status 40Full EntranceAffected •Huntington’s disease treatment:- There is no cure for HD yet. Scientists are still looking for one, but there are many different treatments available. Huntington’s disease treatment focuses on controlling the emotional and movement problems associated with the disorder.
Treatment for Huntington’s disease also focuses on providing care to make living with the disorder easier. There are also different prescription drugs that may be given to a diagnosed person including haloperidol, clonazepam, and some anti-depressants, but these drugs usually have side effects including fatigue, restlessness, and hyper excitability. •Conclusion:- Even though there are many treatments and there have been many different tests done to try and cure the disease, HD cannot be prevented if you are at risk if Huntington’s disease get tested or screened.
If the test is negative you don’t have to worry, but if the results are positive you have to prepare yourself for the challenges you will be facing later in your life. •Experience:- We’ve met Dr. Khodor Siklawi (Neurologist) and asked him about the disease, he said:- “Huntington’s disease is one of the most important diseases in the world but unfortunately people don’t know about it. In Lebanon, there are people affected by Huntington’s disease but their number is much fewer than people who are affected by other common diseases.
Once I faced an experience with a 45-year old man, his family said that he was having difficulty in doing things by himself like eating, walking normally etc.. and memory loss, and after I studied his case from all sides I discovered that he was suffering from Huntington’s disease but I couldn’t cure him since there is no cure for this disease, all I did was that I gave him some drugs to settle down the symptoms that he was suffering from and I told his family to take care of him and help him with his needs because he needed so.
Unfortunately, after 5 years this person died. ” Best regards.
•References:- – National Institute of Neurological Disorders and Stroke. – Websites:- – www. medicinenet. com/Huntington’s disease – www. ehow. com – www. emeritus. com – www. searchmedica. co. uk – www. huntingtons. ie/links. html – www. emedicinehealth. com – Books:- – Clinical genetics handbook 2nd edition. – Huntington’s disease Edited by Peter S. Harper. – Huntington’s disease by David M. Lawrence.