Chorea sjukdom
Federal government websites often end in. Before sharing sensitive information, make sure you're on a federal government site. The site is secure.
Chorea disease: Symptoms, causes, and treatment
NCBI Bookshelf. Anitha Ajitkumar ; Orlando De Jesus. Huntington disease HDa neurodegenerative autosomal dominant disorder, is characterized by involuntary choreatic movements with cognitive and behavioral choreas sjukdom. This activity outlines an overview of Huntington disease with emphasis on etiology, pathophysiology, clinical features, and the differential diagnosis as well the role of the interprofessional team in the evaluation and treatment options in patients with Huntington disease.
Objectives: Identify the etiology of Huntington disease. Overview the evaluation of patients with Huntington disease. Outline the management options for Huntington disease. Access free multiple choice questions on this topic. It occurs as a result of cytosine, adenine, and guanine CAG trinucleotide repeats on the "chorea sjukdom" arm of chromosome 4p This mutation leads to an abnormally long expansion of the polyglutamine in the HTT protein, which leads to neurodegeneration.
The expansion also causes the HTT protein to be more prone to aggregation and accumulation that mitigates protein folding. HD commonly affects patients between the ages of 30 to 50 years.
What is chorea?
However, the longer the CAG repeats, the earlier the onset of symptoms. The term juvenile HD refers to the onset of illness before the age of 20 and is characterized by learning difficulties as well as behavioral disturbances at school. Diagnosis can be made clinically in a chorea sjukdom with motor and or cognitive and behavioral disturbances with a parent diagnosed with HD and can be confirmed by DNA determination.
In those patients who are at-risk for the disease, pre-manifest diagnosis can determine if they carry the gene.
Chorea: The Causes, Symptoms, and Treatments - WebMD
There is no cure for the disease, and affected patients tend to be entirely dependent on their caregiver as the disease progresses. Therefore, treatment is aimed at improving the quality of life and decreasing choreas sjukdom. Pneumonia is a common cause of death, followed by suicide. Huntington disease is an autosomal dominant disorder caused by the elongation of CAG repeats on the short arm of chromosome 4p The gene encodes for the HTT protein, which plays a role in the synaptic function and also plays a crucial role in the post-embryonic period.
It is thought to have anti-apoptotic choreas sjukdom as well as protect against the toxic mutant HTT. There is some evidence that the mutant protein leads to both an addition as well as a loss of function. Intranuclear and intracytoplasmic inclusions are found in several areas of the brain. It is, however, unknown if the inclusions themselves play a role in the pathogenesis or if they are pathogenic themselves.
Chorea: What It Is, Causes, Treatment & Risk Factors
The brain atrophy, particularly in the striatum chorea sjukdom associated extensive neuronal loss, is well known. Those with juvenile-onset of the disease usually have CAG repeats greater than Patients with alleles in the range of 27 to 35 do not show the disease phenotype but are, however, prone to repeat instability. There is an inverse correlation between the length of the repeats and the age of onset, which is determined by the onset of the first motor manifestation.
The chorea sjukdom phenomenon is seen in the paternal line of inheritance, which arises due to the instability of the CAG repeats during spermatogenesis. Studies have found three significant categories of risk factors for the onset of the disease. Among these, the most critical risk factor was found to be CAG repeat lengths. Genetic factors play an essential role in the progression of the disease.
CAG length is also a significant factor for the progression of the disease, especially in cognitive, motor, and neurological disturbances. HD is a rare neurodegenerative chorea sjukdom with a worldwide prevalence of 2. The prevalence varies amongst geographical locations by more than ten-folds; this can be attributed to differences in approach to case-ascertainment as well as diagnostic criteria.
Due to the adult onset of the disease, patients may show expanded CAG repeats rather than manifest the disease. There is also an incomplete penetrance at the lower end of the CAG repeats. Therefore, the frequency of expanded repeats might be higher in the general population than previously assumed. A lower prevalence in the Asian population has been seen consistently together with higher prevalence in Europe, North America, and Australia.
This could be due to the HTT gene haplotypes.