To describe characteristics of persons with HD seen at UCLA’s Huntington’s Disease Society of America (HDSA) Center of Excellence (COE) who experienced misdiagnosis of HD symptoms and who had misdiagnosed and/or undiagnosed family members.

Huntington’s Disease (HD) is a rare neurodegenerative condition with psychiatric and cognitive symptoms, which may predate the classic chorea presentation. This may lead to misdiagnosis with other psychiatric and/or neurodegenerative conditions.

We conducted a chart review of 344 HD persons seen at UCLA between January 2012 and December 2021. One RA reviewed clinical notes from patients’ first visits and collected data on a) patient misdiagnosis and b) family members who were misdiagnosed or undiagnosed and likely had HD, as determined by patient narratives describing their symptoms and their family history. Another RA verified the data. An expert clinician resolved disagreements. Descriptive statistics were used to characterize patients and family members who were misdiagnosed and/or undiagnosed.

Only 18 patients were misdiagnosed, and 78 patients had family members who were misdiagnosed or undiagnosed. Of the misdiagnosed patients, 17 received a diagnosis before being seen at UCLA. Cognitive/behavioral and movement disorders, such as schizophrenia and tics, respectively, were the most common misdiagnoses among both patients and family members. Among family members who never received a formal clinical diagnosis, the most common set of symptom descriptions included “uncontrolled movements.”

Misdiagnoses among HD patients at UCLA were rare. We suspect this is due to patient referral bias, with individuals with a known HD diagnosis being referred to UCLA. Studies on misdiagnosis and interventions to improve HD recognition should focus on pre-COE points of care, including primary care and general neurology clinics.