Diagnostic challenges in a patient with cognitive and motor disturbances: is it Huntington's disease?

Huntington’s disease (HD) is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. It deteriorates a person’s physical and mental abilities usually during their prime working years and there is no cure. HD is known as the quintessential family disease because every child of a parent with HD has a 50% chance of inheriting the faulty gene. Symptoms usually appear between the ages of 30 to 50, and worsen over a 10- to 25-year period. Ultimately, the weakened individual succumbs to pneumonia, heart failure or other complications. Everyone has the gene that causes HD, but only those that inherit the expansion of the gene will develop HD and perhaps pass it on to each of their children. Every person who inherits the expanded HD gene will eventually develop the disease. Over time, HD affects the individual’s ability to reason, walk and speak. Hereby, we describe the case of a 35-year-old patient with HD presenting with cognitive and motor disturbances to underline the diagnostic challenges and differential diagnostic options.