DOI: https://doi.org/10.36347/sjmcr.2025.v13i07.050

Pages: 1718-1721

Huntington’s disease (HD) is a rare, autosomal dominant neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the huntingtin (HTT) gene on chromosome 4. It leads to the production of a toxic protein variant, causing neuronal dysfunction and cell death, primarily in the striatum. The disease is characterized by a triad of motor impairments (chorea, dystonia, bradykinesia), cognitive decline (executive dysfunction, memory loss), and psychiatric symptoms (depression, irritability, psychosis). A case study of a 56-year-old woman with HD revealed severe psychiatric symptoms, including persecutory delusions, aggression, and hallucinations. Initial misdiagnosis as schizophrenia delayed proper management. Brain MRI confirmed HD-related atrophy, leading to appropriate treatment with quetiapine, which improved symptoms, though full remission was not achieved. Diagnosis relies on genetic testing, neuroimaging, and clinical evaluation. Management is multidisciplinary, involving neurologists, psychiatrists, and therapists. While no cure exists, treatments target symptom relief. Tetrabenazine is used for chorea, while SSRIs and antipsychotics help manage psychiatric symptoms. Further research is needed to develop disease-modifying therapies and improve patients’ quality of life.