Taking a Look at Huntingtons Disease

George Huntington first described Huntington’s disease in 1872, but it was only mentioned to the

Huntington's disease is an inherited neurodegenerative disorder. It is passed on to children from one or both parents (though two parents with Huntington's is extraordinarily rare) in an autosomal dominant manner. This is different from autosomal recessive disorder, which requires two altered genes (one from each parent) to inherit the disorder.

Huntington’s Disease (HD) is a genetic disorder in which the necrosis of cells in the brain causes early death [9]. The neurodegeneration of the brain leads to mechanical and psychological symptoms, which can present normally from 30 to 50 years of age or even earlier, which is referred to as Juvenile Huntington’s Disease [3,5,6]. Some mechanical symptoms of HD are change in gait, uncontrolled or sudden movement, abnormal face movement, turning the whole head instead of using the eyes, difficulty swallowing, impairment of speech and general decrease of motor skills [1]. Psychological symptoms include but are not limited to paranoia, irritability, mood swings, changes in behavior such as agitation or instability and

family, and an analysis will be done. This sampling of the blood will be performed

Huntington 's Chorea or Huntington 's Disease is a rare progressive genetic disorder which afflicts roughly 7 out of every 100,000 people in North America (Rawlins, 2016, pp. 144–153). The disease manifests primarily in tissues of the brain, and affects the shutdown of many primary functions including speech, movement, and cognitive abilities. With a strong genetic component, there is a 50% chance of just one parent passing the gene linked with Huntington 's Disease along to offspring; additionally, studies have proven that everyone with the defective gene will eventually develop Huntington 's Disease. Though medications are used to mange some symptoms of the disease, there is no cure, and there are currently no medication options to manage the psychological and physical decline which comes with end-stage Huntington 's Disease.

It is a disease that progressively breaks down the nerves in the brain. The genetic mutation that underlies the disease is in chromosome 4. The gene codes for the huntingtin protein, which makes up about 6% of the DNA in cells (Genetic Home Reference). This mutation deals with the trinucleotide repeat of the cytosine-adenine-guanine (CAG) sequence. This sequence repeat can repeat up to 40 times to be considered normal, but after this sequence repeats more than 41 times then it is considered Huntington's disease. Huntington’s protein can form inclusions seen in both the cytoplasm and the nucleus (Suchowersky). These inclusions are correlated with neuronal cell death, which occurs within the nerves. Interestingly, Huntington protein seems to be very important for early development (Suchowersky), but in high concentrations appears to become toxic especially to nerve cells. Overall, Huntington’s disease has a very intense effect on the body and behavior

Rooting back to the middle ages the now commonly known Huntington’s disease is the cause of death in one out of 15000 people around the globe. The disease’s existence is documented through history under many different names depending on the amount of information that was gathered through the unusual progression of the disease. The disease was referred to as Chorea initially due to the jerky movements of the patients affected by it. The first thorough description of the disease surfaced in 1872 as George Huntington whom the disease is named after today presented a detailed definition of the disease through his first paper. George Huntington was able to accurately detect the pattern of inheritance of an autosomal dominant disease by examining the combined medical histories of a family that clearly suffered from the disease through generations. The disease could not be studied further until the rediscovery of the Mendelian Inheritance in the 20th century that allowed scientist to look further into the autosomal dominant disease.

Most of the carriers of Huntington disease are usually childhood victims (Donaldson, Marsden, Schneider, & Bhatia, 2012).

The author states got one person in every 10,000 in the United States gets Huntington's disease. The symptoms are usually begin with minor arm jerks and some facial twitches. Then following these symptoms tremors spread to various parts of the body and then it develops into writhing. People start to lose the ability to learn or improve motor skills. Basically what is going on in the brain is, "the output from the basal ganglia is inhibitory to the thalamus, and damage to the basal ganglia leads to increased activity in motor areas of the Thelma's. This increase produces the involuntary jerking movements." People with Huntington's disease suffer from psychological disorders as well. Sometimes in the early stages of Huntington's disease people are misdiagnose with having schizophrenia. The book also shows a picture of a normal person's brain and a person’s brain with Huntington's disease, the ventricles expanded because of the loss of neurons; therefore the ventricle looks much larger than it actually is, and it is very evident in the picture (Page 255). Last there is a procedure which enables physicians to predict who or who will not get Huntington disease. To determine this, physicians can count the number of consecutive repeats on the combination C-A-G on one gene on chromosome four. In saying this if the number is fewer than thirty-six, the person will not develop Huntington's disease. Although there are several promising drugs currently in various stages of investigation but none of them have been approved for human use, they have only been tested on animals. I personally think that this needs to be something researchers focus on so we can help the people that are suffering from this terrible

If Melissa’s mother is Huntington’s disease positive heterozygous and her father is Huntington’s disease positive homozygous if this is the case 100% chance Melissa will be Huntington’s disease positive.

Learning about Huntington's disease was one my favorite things of my observership. because I was able to help the Dr. with its research about the disease, and observe the physical exam but most important see patients with the disease. I am from Maracaibo, Venezuela, and the city is know for the largest population with Huntington's disease, they call it "el mal del Sambito" because of the choreography like movements. It was very nice, being to relate to the disease somehow.

Huntington's Disease causes the progressive breakdown (Degeneration) of nerve cells in the brain. Huntington's disease has a big impact on a person's functional abilities and usually results in movement, thinking, and psychiatric disorders. When the disease develops before age 20, the condition is called juvenile Huntington's disease. An earlier emergence of the disease often results in a somewhat different set of indications and faster disease progression. Huntington’s Disease mostly causes movement, thinking, and psychiatric disorders with a wide spectrum of signs and symptoms. Some symptoms include Movement Disorders which can lead to involuntary jerking or writhing movements and difficulty with the physical production of speech or swallowing. Thinking Disorders which make you have a lack of awareness of one's own behaviors/abilities and slowness in processing thoughts or have trouble finding words. It also can make you have Psychiatric Disorders which can make you have a feeling of sadness or irritability, Fatigue, and loss of energy, and frequent thoughts of death, dying or suicide. Now for the causes of disease, Huntington's disease is caused by an inherited defect in a single gene. Huntington's disease is an autosomal dominant disorder, which means that a person needs only one copy of the defective gene to develop the disease. With the exception of genes on the sex chromosomes, A person inherits two copies of every gene, one copy from mom and one from dad. A parent with a defective gene could pass along the defective copy of the gene or the healthy copy. Each child in the family, Therefore, Has a 50 percent chance of inheriting the gene that causes the Genetic

Huntington’s disease is a rare genetic disorder that slowly kills nerve cells. The cause is the HTT gene in the fourth chromosome, being repeated more times than the healthy gene has. Due to the death of nerve cells, you can get dementia, loss of mental abilities and chorea witch is uncontrollable movements in the arms or other parts of the body. Other symptoms include violent outbursts, seizures, and dystonia or muscle problems like tremors. Also in adolescents having no perseverance and giving up right away.

Huntington's disease is a genetic disease. It is an autosomal dominant disorder which means that a single defective gene copy will cause the disease because it inherits the defect in a single gene caused by a mutation in the HD (also known as HTT) gene on chromosome 4.

According to Cunha, (2010) article Huntingtons Disease, there is no treatment to stop Huntington’s disease. The physicians may prescribe a lot of medication to control the emotional and movement problems. The U.S Food and Drug Administration approved tetrabenazine in August 2008 to treat the HD making it the first drug approved in U.S to treat the disease. To help reducing the choreic movements and help to control hallucinations, delusions and violent outburst, use Antipsychotic drugs such as haloperidol or clonazepam. However, the Antipsychotic are not prescribed for other form of muscle contraction called dystonia associated with HD that can worsen the condition causing stiffness. Also, it have a severe side effects including sedation so it should take in lowest doses. Physicians may prescribe fluoxetine, sertraline, nortriptyline for depression. Tranquilizers help to control anxiety and lithium may prescribed to severe mood swings and pathological excitement. Some individuals with HD need medications to treat the obsessive-compulsive. Other drugs used to treat symptoms of HD have side effects such as fatigue, restlessness and hyperexcitability.