Unraveling Huntington's Disease: A Report on Genetic Testing, Clinical Presentation, and Disease Progression

This study presents the clinical features and disease progression of a 39-year-old male patient diagnosed with Huntington's disease (HD). The diagnosis was confirmed by direct genetic testing, using DNA obtained from a blood sample that revealed expanded cytosine-adenine-guanine (CAG) repeats in the huntingtin gene (HD gene). The patient exhibited motor symptoms, including chorea, muscle rigidity, coordination difficulties, and speech and swallowing impairments. Cognitive symptoms comprised impaired judgment, planning difficulties, slowed thinking, memory lapses, and attention problems. The patient's progressive deterioration resulted in wheelchair dependency and increased reliance on supportive care. This report highlights the significance of genetic testing in confirming HD diagnosis and emphasizes the need for a multidisciplinary approach to manage the symptoms and improve the patient's quality of life.

Automated summary

This study presents the clinical features and disease progression of a 39-year-old male patient diagnosed with Huntington's disease (HD). The diagnosis was confirmed by direct genetic testing, using DNA obtained from a blood sample that revealed expanded cytosine-adenine-guanine (CAG) repeats in the huntingtin gene (HD gene). The patient exhibited motor symptoms, cognitive symptoms, and experienced progressive deterioration that resulted in wheelchair dependency and increased reliance on supportive care.