Prevalence amongst juvenile Huntington’s disease
PLEASE PROVIDE 2-3 SENTENCE COMMENT
A. After reviewing chapter 12 and the different neurocognitive disorders that were presented, the one disorder that I felt like did not have too much information on was Huntington’s Disease which is why I decided to research it a little more. Huntington’s disease is a rare and genetically transmitted disorder that is characterized by involuntary movement, progressive dementia and emotional instability. Initial symptoms involve neurocognitive decline, and many changed in an individual’s personality. These typically begin with difficulties involving complex attention and problem solving. Since Huntington’s is a genetically transmitted disease from parent to child, there is a 50/50 chance of developing the disorder. For this there is predictive genetic testing is available for family members who want to know if the offspring would develop HD. The case study I decided to review was a prevalence amongst juvenile Huntington’s disease. In this case study, researchers focused on South Africa and Venezuela. The case focused on prevalence, population, epidemiology and incidence. Results showed that most studies were performed in Europe and North America and the effect was minimal. There were clinical reviews performed and the meta-analysis were presented by the Black population. There was not much on how the case was performed but they reviewed the main aspects and the conclusions.
B. An 8-year-old boy was brought in to see a neurologist for progessively worsening involuntary movements and seizures. He was found to have a rare form of Huntington’s Disease, known as Juvenile Huntington’s Disease (JHD). HD typically occurs in individuals who have 35-40 CAG trinucleotide repetitions, while juveniles typically have 60 or more CAG repetitions on their HTT gene. The young boy had 100 CAG repetitions, which only confirmed doctors’ suspicions. Within children, JHD typically occurs in three stages: behvaioral and learning challeneges in stage one, mental deterioration and rigidity in stage two, with seizures becoming more frequent and serious in stage three. As mentioned prior, the patient was suffering from involuntary movements, worsening speech, seizures, and focal epilepsy since the age of 5. HD and JHD are uncurable as of now, but if caught early on, specialists may be able to do things to make the patient’s quality of life better. Additionally, counseling and therapy services may be available for patients’ family members to help them come to terms with their loved one’s disease.