Diagnosing Huntington's disease on the medical ward

An African American man in his early 40s with progressive gait impairment and chronic cognitive impairment initially presented to the emergency department after statements of self-harm and was hospitalised. Examination revealed notable neurological abnormalities including impaired memory recall, oral dyskinesia/choreiform movements, dystonia of the right upper extremity with drift, hyper-reflexia and spastic gait. On further evaluation, including neurology and genetics consultation and workup, a clinical diagnosis of the neurodegenerative disorder Huntington's disease (HD) was made. Further history revealed a family history of cognitive issues and dystonia in his uncle at the age of mid-40s. The diagnosis of HD was confirmed via genetic testing of the blood, specifically looking for trinucleotide repeats. HD allele 1 had full penetrance with 44 cytosine-adenine-guanine (CAG) repeats and HD allele 2 had partial penetrance with 15 CAG repeats. A multidisciplinary team was critical in diagnosing and managing this patient's underlying HD.