Case study last section to be complete

Work as a team to review a patient scenario, investigate the genetics behind the patient's symptoms and prepare: 1. an ~½ page summary of the patient's condition written at a professional level for other researchers and doctors 2. an ~½ patient-focused information sheet (typically large font with graphics, like vaccine or health-related handouts from a doctor's office) to help this and future patients better understand their disorder Sources

1. https://www.omim.org/entry/613004?search=gene%20HTT&highlight=gene%2Chtt 2. https://www.ninds.nih.gov/health-information/disorders/huntingtons-disease 3.https://pmc.ncbi.nlm.nih.gov/articles/PMC9125092/ 4.https://www.sciencedirect.com/science/article/pii/S0002929709000640 https://www.mayoclinic.org/diseases-conditions/huntingtons-disease/diagnosis-treatment/drc-20 356122

Dear colleagues, It was a pleasure seeing this patient in our clinic today. To remind you, patient X is a 45 year old male who reports involuntary movements and coordination issues that began in the last 2 months. His family members also report additional symptoms of significant mood changes and cognitive decline that began around 6 months ago. Additionally, within the past year, patient x reports a 20lb weight loss attributed to a difficulty swallowing while eating. Patient x has an interesting family history worth noting. He reports his mother passed away at the age of 52 due to an unexpected car accident, but leading up to her death, she began to exhibit similar symptoms 2 years prior. No known diagnosis or testing was conducted prior to her death. Patient x also reports 2 biological siblings in their early to late 40s without similar symptoms. Genetic testing was conducted and revealed a disease causing mutation in the HTT gene. Gene mutation identified: Gene HTT, heterozygous: Allele 1 is c.52-54(CAG)[46], Allele 2 is c.52-54(CAG)[18]. This mutation is identified as a CAG trinucleotide repeat expansion mutation. As you may know, this gene is associated with Huntington’s disease (1st source). The HTT gene encodes for a protein called ‘huntingtin,’ which appears to play an important role in proper brain development (https://medlineplus.gov/genetics/gene/htt/). Huntington's disease is an autosomal dominant disorder that leads to neurons in the brain to gradually die, specifically in areas of the brain that control voluntary movement(source 2). Additionally, symptoms can include changes in behavior (source 2). Patients with Huntington’s disease tend to exhibit these symptoms in their 30s-40s. Due to the genetic testing results and similar symptom profile, we do believe Huntington’s disease is an appropriate diagnosis for patient X. We recommend patient x starts on medications to help control movement and psychiatric symptoms, particularly ones that encourage weight gain. Although not the first line of treatment option, we will begin with Olanzapine given its positive effect on weight. We also recommend additional genetic testing for his brother and sister, who we are happy to see here in clinic. It was a pleasure participating in the care of this patient and we look forward to seeing patient X back in 6 months.