Medical Cases
with Janet

A 49 year old man, Mr. Anthony Gopal, came into my office today accompanied by his wife. As he sat down I saw that his leg bounced restlessly and his fingers tapped against his knee in small, jerky movements that didn’t seem fully under his control. I asked him to walk a short distance across the room, and noted that his gait had an unsteady, swaying quality, like he was under the influence but he denied any alcohol use.

His wife explained that over the past two years, she has noticed him becoming increasingly clumsy, often dropping dishes or knocking into furniture without realizing it. She said his personality has also shifted, describing him as more irritable and quick to snap at their children over small things, which she said is completely out of character for him. Mr. Gopal added that he has been struggling at work, where he used to handle complex spreadsheets with ease but now finds himself losing his train of thought partway through tasks and forgetting steps he has done a hundred times before.
His family history includes that Mr. Gopal’s father passed away in his early fifties after spending his last several years in a care facility, unable to walk or speak clearly, though the family was never given a clear diagnosis for what was happening to him. He described his father's hands and face as constantly twitching toward the end. He compared it to a puppet being pulled by invisible strings.

During the physical exam, I observed brief, irregular, like movements in his arms and shoulders that appeared and disappeared unpredictably, along with difficulty maintaining a steady gaze when I asked him to follow my finger with his eyes. 

His wife mentioned that he has also started having trouble swallowing certain foods, occasionally coughing during meals. In regard to his mental state, Mr. Gopal admitted that he has had thoughts of just giving up entirely, since he feels like he is "losing pieces" of who he used to be and does not want his children to watch him decline the way he watched his father.

I ordered genetic testing along with an MRI of the brain to further evaluate his symptoms.

Diagnosis

Based on the combination of involuntary movements (chorea), the progressive cognitive decline affecting his executive function and memory, the marked personality changes including irritability and apathy, and a strong family history suggestive of an inherited pattern, I diagnosed Mr. Gopal with Huntington's Disease (HD).
Genetic testing confirmed an expanded CAG trinucleotide repeat in the HTT gene, consistent with this autosomal dominant disorder caused by a pathological amplification of CAG repeats within the HTT gene. 
His MRI also showed early atrophy in the caudate nucleus, a finding commonly associated with this disease. His father's undiagnosed decline, including involuntary movements and progressive loss of function, also fits the pattern of an unrecognized case passed down through the family.
Treatment Plan
Since there is currently no cure for Huntington's Disease, I focused on a symptomatic and supportive treatment plan. To help manage Mr. Gopal’s uncontrollable movements, I prescribed a VMAT2 inhibitor, deutetrabenazine, which helps reduce involuntary movements associated with the disease. 
Given his reports of irritability and the troubling comments about giving up, I referred him urgently to psychiatry for further evaluation and to begin treatment with an antidepressant, since HD is closely linked to depression, anxiety, and an increased risk of suicide. I also referred him to physical therapy to help improve his strength, flexibility, balance, and coordination, and to speech and swallowing therapy given his early difficulty with eating safely. Finally, I referred his family for genetic counseling, since his children may also carry the expanded gene and would benefit from understanding their own risk and options.

Analysis

I arrived at this diagnosis because Mr. Gopal’s case presented the classic triad seen in HD including motor dysfunction, cognitive decline, and psychiatric disturbances. His chorea, balance problems, and swallowing difficulty pointed toward a movement disorder, while his memory lapses and trouble completing familiar tasks suggested cognitive involvement rather than a muscular condition. 
The personality changes and concerning comments about not wanting to watch himself decline"reflect the emotional toll that HD often takes, which is why I gave an urgent psychiatric referral. His father's undiagnosed but similar decline strongly supported a hereditary cause, which the genetic testing later confirmed. I chose deutetrabenazine specifically for the chorea since it is one of the standard pharmacologic options, and I built the rest of the plan around the understanding that HD requires a team approach involving neurology, psychiatry, physical therapy, and genetic counseling, since no single medication can address all of its effects. I made sure to offer plenty of resources since a diagnosis like this is heavy and already he described feeling mentally taxed.

Works Cited:

Cleveland Clinic. (2026, May 6). Huntington's disease (HD): What it is, symptoms & treatment. Cleveland Clinic. https://my.clevelandclinic.org/health/diseases/14369-huntingtons-disease
UR Medicine. (n.d.). Conditions & treatments: Huntington's disease. University of Rochester Medical Center. https://www.urmc.rochester.edu/conditions-and-treatments/huntington-s-disease
Vega, A. J., Hernandez, G. V., O'Malley, P. A., Robin, C. J., Parra, A. N., Varrassi, G., Shekoohi, S., & Kaye, A. D. (2025, December 1). Overview of Huntington's disease and emerging treatment strategies: A narrative review. Cureus. https://doi.org/10.7759/cureus.98243
(Author not listed). Huntington's disease: Understanding its novel drugs and treatments. PubMed Central. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664735/