How to Control Huntingtons Disease - amazonia.fiocruz.br

How to Control Huntingtons Disease Video

Huntington's disease HDalso known as Huntington's choreais a neurodegenerative disease that is mostly an inherited disorder. There is no cure for HD, and full-time care is required in the later stages. The first likely description of the disease was in by American physician Charles Oscar Waters. Symptoms of Huntington's disease most commonly become noticeable between the ages of 30 and 50 years, but they can begin at any age.

Essay on Understanding Huntington's Disease

The most characteristic initial physical symptoms are jerky, random, and uncontrollable movements called chorea. Common consequences are physical instability, abnormal facial expression, and difficulties chewing, swallowingand speaking.

Cognitive abilities are progressively impaired. Reported impairments range from short-term memory deficits to long-term memory difficulties, including deficits in episodic memory of one's lifeprocedural memory of the body of how to perform an activity and working memory.

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Huntihgtons neuropsychiatric signs are anxietydepressiona reduced display of emotionsegocentrismaggressionand compulsive behaviorthe latter of which can cause or worsen addictionsincluding alcoholismgamblingand hypersexuality. Mutant huntingtin is expressed throughout the body and associated with abnormalities in peripheral tissues that are directly caused by such expression outside the brain. These abnormalities include muscle atrophycardiac failureimpaired glucose tolerance How to Control Huntingtons Disease, weight lossosteoporosisand testicular atrophy.

Everyone has two copies of the huntingtin gene HTTwhich codes for the huntingtin protein htt. Part of this gene is a repeated section called a trinucleotide repeat expansionwhich varies in length between individuals and may change length between generations. If the repeat is present in a healthy gene, a dynamic mutation may increase the repeat count and result too a defective gene.

Essay on Huntington’s Disease

When the length of this repeated section reaches a certain threshold, it produces an altered form of the protein, called mutant huntingtin protein mhtt. The differing functions of these proteins are the cause of pathological changes which in turn cause the disease symptoms. The Huntington's disease mutation is genetically dominant and almost fully penetrant : mutation of either of a person's HTT alleles causes the disease. It Contrkl not inherited according to sex, but by the length of the repeated section of the gene and hence its severity can be How to Control Huntingtons Disease by the sex of the affected parent.

HD is one of several trinucleotide repeat disorders which are caused by the length of a repeated section of a gene exceeding a normal range. Generally, people have fewer than 36 repeated glutamines in the polyQ region which results in production of the cytoplasmic protein huntingtin. Regions of the brain have differing amounts and reliance on these types of neurons, and are affected accordingly. The remaining variation is attributed to environment and other genes that modify the mechanism of HD.

In some cases the onset may be so late that symptoms are never noticed. Juvenile HD is typically of the Westphal variant that is characterised by slowness of movement, rigidity and tremors. Huntington's disease has autosomal dominant inheritance, meaning that an affected individual typically inherits one copy of the How to Control Huntingtons Disease with an expanded trinucleotide repeat the mutant allele from an affected parent.

This probability is sex-independent. Trinucleotide CAG repeats over 28 are unstable during replicationand this instability increases with the number of repeats present. Individuals with both genes affected are rare. For some time HD was thought to be the only disease for which possession of a How to Control Huntingtons Disease mutated gene did not affect symptoms and progression, [32] but it has since been found that it can affect the phenotype and the rate of progression.

The huntingtin protein interacts with over other proteins, and appears to have multiple biological functions.]