ABSTRACT
CASE PRESENTATION The patient was first seen at age 37 years. According to history provided by his prior physicians, dystonia had developed in his trunk and limbs in his late 20s along with gait impairment, leading to a medical discharge from military service. There were some abnormal movements in the face, described as tics by prior physicians. He was unable to work following discharge from the service and, according to prior clinical descriptions, probably had some cognitive impairment by age 30. Multiple diagnostic evaluations, including structural brain imaging, electroencephalograms (EEGs), electromyograms (EMGs), thyroid function tests, and testing for human immunodeficiency virus (HIV) and sexually transmitted disease failed to reveal the cause. The patient was finally diagnosed with Huntington’s disease (HD) by a neurologist who confirmed the clinical diagnosis with genetic testing, after at least 7 years of symptoms. The patient’s fraternal twin brother also has a clinical diagnosis of HD, but, due to insurance limitations, has not undergone genetic testing. As both were adopted, no other family history is known.
