Huntington's disease, also known as HD, is an uncommon degenerative disorder that greatly impacts the central nervous system of the individual. It is often characterized by surplus and unneeded choreatic movements, unusual behavioral patterns, disturbances in the mental level and dementia. (Sheth 2013) As far as the Caucasian population is concerned, the Huntington's disease is prevalent in one out of ten thousand persons. The symptoms start to appear when the individual is thirty to fifty years of age. In a few cases, adolescents start to show symptoms of HD (known as JHD or Juvenile Huntington's disease) before the age of twenty by demonstrating behavioral disorders and learning difficulties at school. However, chorea is the major sign of the onset of HD that spreads to all muscles with the passage of time. The affected individual becomes severely retarded as the psychomotor processes are affected gradually. he/she also suffers decline of cognitive skills and starts experiencing mental disorder symptoms (Roos 2010).
If described in medical language, Huntington's Disease is "an autosomal dominant inherited disease caused by an elongated CAG repeat (36 repeats or more) on the short arm of chromosome 4p16.3 in the Huntingtin gene" (Roos 2010). The symptoms begin to show as early as elongated the CAG repeat is. In adolescents that suffer from Juvenile Huntington's disease, the repeat frequently goes beyond 55. The signs and clinical symptoms lay the basis for diagnosis, especially for individuals who have a parent with confirmed Huntington's disease. The diagnosis is confirmed with the determination of DNA. Several types of diagnosis may be conducted including pre-manifest diagnosis, prenatal diagnosis and pre-implantation diagnosis. Although, there is still no cure for the mentioned disease, the quality of life of the patients can be improved with the help of care (both medical and non-medical) and other available treatments. The individual with Huntington's disease becomes completely dependent as the disease progresses and is not able to carry out even the day-to-day tasks. This situation ends up in full time care and then death. Death is most commonly caused by pneumonia seconded by successful suicidal attempts (Roos 2010).
The above chromosome map clearly shows there is a mutation in the Huntington's disease.
Causes and Risks
All Huntington's disease cases are found to be caused by the defective gene that was identified by the medical scientists in the year 1993. The huntingtin gene imperfection is consisted of an additional particular chemical code repeat in a minute part of chromosome 4. Normally, the huntingtin gene has a total of more or less twenty repetitions of this specific chemical code among the total codes that number three thousand approximately. The Huntington's disease is caused by the chromosomal defect in which there are more than forty repetitions. For the genetic tests of the Huntington's disease, these number of chemical codes repetitions that are present in the huntingtin protein gene of the patients are measured (Knowles 2007).
The actual function of the hungtin protein/gene is still not known to the scientists. They still don't know about the process due to which dozens of surplus repeats in its genetic design cause the destructive indicators of Huntington's disease. This is the reason why scientific researchers are making endeavors for the resolution of the unanswered Huntington's mysteries. Any advancement and solution would be advantageous for the getting insights of psychological disorders for instance Alzheimer's, Parkinson's disease etc. (Knowles 2007).
Symptoms
The symptoms of this disease may vary from person to person. There are cases when within the same family the symptoms differed from the other family member. In some cases, emotional and behavioral symptoms are more prominent. For others, the emotional and behavioral symptoms may be less obvious as compared to the symptoms of involuntary movements (Lemiere 2004). Following are some of the most common symptoms of Huntington's disease.
Emotional/Behavioral Symptoms
Some of the symptoms which are commonly encountered in the Huntington's disease are anxiety, irritability, depression and apathy. Some people suffer from depression for a longer period which may be months or even a year, before its recognition to be a symptom of HD. Social withdrawal, several occurrences of mood swings and impulsiveness with aggression are the behavioral changes that may show up. Existing personality traits can also get intense by Huntington's disease. There are also very less chances of schizophrenia and other psychiatric problems in Huntington's disease (Lemiere 2004).
Cognitive/Intellectual Symptoms
The very first signs of cognitive disturbance often are the slight changes in intellectual capacity. These signs may be the reduced...
Creatine treatment started at 6, 8, and 10 weeks of age, analogous to early, middle, and late stages of human HD, significantly extended survival at both the 6- and 8-week starting points. Significantly improved motor performance was present in both the 6- and 8-week treatment paradigms, while reduced body weight loss was only observed in creatine-supplemented R6/2 mice started at 6 weeks." (Dedeoglu, et al., 2003) Specifically it is
HD is extremely debilitating, and if the patient lives long enough, the symptoms can become extremely severe. It is not uncommon for patients who suffer from the disease to suffer extreme depression and sometimes suicide, so developing medications that could delay or slow the disease are extremely important, and laboratory testing should definitely continue in this area. Laboratory work in the past decades has helped develop a much deeper understanding
Introduction Huntington’s disease is one of many neurodegenerative diseases, which has chorea as one of its prevalent symptoms (Hergert, Sanchez-Ramos, & Cimino, 2019, p.1) . Discovered in the late 1800s’ by George Huntington, a young American medical doctor at the time, the disease has gathered interest from the medical community—but with little in the way of a cure. The disease is highly hereditary, with a 50% chance of transference from parent to
Huntington's disease (HD) was the first autonomic dominant disorder for which genetic prediction became possible" (Harper, et al., 2000, Journal of Medical Genetics, p. 567). HD is a disease that occurs due to an inherited disorder leading to the death of brain cells. A diagnosis of HD is accomplished through genetic testing which can be implemented at any age regardless of whether the symptoms manifest or not. Although, the specific
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