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Huntington’s Disease

Huntington's Disease (HD) is a rare neurodegenerative disorder characterized by the breakdown of nerve cells in the basal ganglia region of the brain. It progressively deteriorates motor and cognitive functions, often compared to a combination of ALS, Parkinson's, and Alzheimer's. HD is caused by a mutation in the huntingtin (HTT) gene, and its symptoms can vary depending on genetic characteristics. It presents with chorea, dystonia, abnormal eye movements, impaired gait, speech difficulties, dementia, and various psychological symptoms. Prognosis depends on the number of CAG repeats in the gene, with death typically occurring due to complications such as choking, infection, pneumonia, or heart failure.

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Huntington’s Disease

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  1. Huntington’s Disease By Megan Gibbons

  2. Summary • Rare disease • Breakdown of nerve cells • Affects basal ganglia region of brain • Progressively deteriorates motor and cognitive functions • “Many describe the symptoms of HD as having ALS, Parkinson’s and Alzheimer’s – simultaneously.” - HDSA

  3. Genotype • Autosomal dominant • Caused by mutation (CAG triplet repeat) on chromosome 4 in exon 1 of huntingtin (HTT) gene. • Normal: CAG repetition 10-28 times • Mutation: 36-120 times • Everyone has the HD/HTT gene, but only those that inherit the defective gene will develop HD.

  4. Phenotype • Onset of symptoms depend on genetic characteristics • Spans anywhere from childhood to one’s 50s • Chorea • Dystonia • Slow/abnormal eye movements • Impaired gait, posture and balance • Difficulty with speech • Dementia • Irritability • Hallucinations • Psychosis • Paranoia • Depression • Anxiety • Weight loss

  5. Prognosis • Depends on number of CAG repeats. • Anyone that has the defective version of the HD/HTT gene will develop Huntington’s at some point in their lives. • Worsens for 10-15 years until death. • When a person with HD dies, it is typically from complications of the disease • Choking • Infection • Pneumonia • Heart failure

  6. Works Cited Mayo Clinic Staff. (2017, June 13). Huntington's Disease: Relationship Between Phenotype and Genotype. Retrieved February 22, 2018, from https://www.mayoclinic.org/diseases-conditions/huntingtons-disease/symptoms-causes/syc-20356117 Huntington’s Disease Society of America. (n.d.). What Is Huntington's Disease? Retrieved February 22, 2018, from http://hdsa.org/what-is-hd/ Shelat, A. M. (2017, May 15). Huntington disease. Retrieved February 22, 2018, from https://medlineplus.gov/ency/article/000770.htm Sipilä, J., & Majamaa, K. (2014, June). Prognosis Of Huntington's Disease In Finnish Patients. Retrieved February 22, 2018, from http://www.mdsabstracts.com/abstract.asp?MeetingID=801&id=111574 Sun, Y. M., Zhang, Y. B., & Wu, Z. Y. (2017, January). Huntington's Disease: Relationship Between Phenotype and Genotype. Retrieved February 22, 2018, from https://www.ncbi.nlm.nih.gov/pubmed/26742514

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