This genetic disorder can masquerade as addiction, depression, or psychosis

By Elizabeth Pratt | Fact-checked by Davi Sherman

Published February 21, 2025

Key Takeaways

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“Changes in cognition and psychiatric symptoms are often the first to arise, and these can often be misdiagnosed as schizophrenia... This creates a situation where there’s a lot of stigma and assumptions that can cloud the objectivity of doctors and even specialists. Once the diagnosis is made, it often seems obvious in retrospect, but it can be difficult for people to take that objective standpoint and look at the big picture.” — Xenos Mason, MD
“Missing the diagnosis can lead to untreated symptoms and worse quality of life. Also, because [this] disease has implications for the family, a missed diagnosis can result in missed opportunities for awareness and family planning.” — Hengameh Zahed, MD, PhD

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Research has uncovered a mechanism by which the genetic mutation that causes Huntington’s disease (HD) leads to brain cell death, but patients with the disease can still be misdiagnosed.^[]^[]

Read more about new research in HD here: New study may help diagnose this rare, fatal disease decades before symptoms appear

Those with HD can experience uncontrollable movements and problems with emotions, cognition, personality, and behavior, but they may receive an incorrect diagnosis.^[]

“Huntington’s disease is a protean disease; it can take many different forms. People often think first of the movement issues, but changes in cognition and psychiatric symptoms are often the first to arise, and these can often be misdiagnosed as schizophrenia. Often patients have issues with behavioral control that leads to problems with addiction or [substance] abuse. This can destroy families and sometimes leave patients without any social support—or even homeless,” says Xenos Mason, MD, a neurologist at Keck Medicine of USC who specializes in movement disorders.

“As you can imagine, this creates a situation where there’s a lot of stigma and assumptions that can cloud the objectivity of doctors and even specialists. Once the diagnosis is made, it often seems obvious in retrospect, but it can be difficult for people to take that objective standpoint and look at the big picture,” he adds.

"A tragically common situation for people who treat this disease is to meet a family that has been plagued by Huntington’s for generations without any diagnosis. They see the disease as a curse or a weakness of the family that’s led to alcoholism or drug abuse or strained relationships over decades," Dr. Mason tells MDLinx.

Symptoms misdiagnosed

While some symptoms, like chorea (uncontrollable dance-like movements) can be indicative of HD, they can also be dismissed or mistaken for other things.^[]

“Early in the disease, subtle chorea can sometimes be mistaken for restlessness, fidgeting, clumsiness associated with anxiety, or tics. Additionally, adaptations that patients make to try to mask or control their chorea (called parakinesis) can sometimes make it difficult for clinicians to recognize the early signs of HD,” Hengameh Zahed, MD, PhD, a neurologist at Stanford Medicine Movement Disorders Center, tells MDLinx.

“Another scenario is where psychiatric symptoms predominate and patients present with psychosis, suicidality, severe depression … with [the] presence of fairly subtle classic motor manifestations, such as chorea, or where the hyperkinetic movements get confused for another entity such as functional symptoms, malingering, tardive dyskinesia, or a drug-induced movement disorder,” Dr. Zahed adds.

The role of family history

Both Drs. Zahed and Mason note that a family history of HD—or the lack thereof—is important context.

“This is a diagnosis that often becomes most obvious when taking a thorough family history. Often the patient will respond along the lines of, ‘I don’t know anything about my dad’s health; he left when I was young, and I never heard from him.’ Don’t dismiss this hint as unrelated; it’s often an indicator of psychiatric or cognitive disorders in prior generations that can suggest the need for HD testing,” Dr. Mason says.

Huntington’s disease is most likely to be misdiagnosed in the absence of a family history of the disease, Dr. Zahed says.

“This can happen for a variety of reasons: non-paternity; adoption; early death of the affected parent; small families where another affected family member may not be known; the next generation presents symptoms at a much younger age, while the parent had minimal to no symptoms even in older age. In these cases, sometimes the possibility of a genetic etiology gets discounted,” Dr. Zahed notes.

"It’s important to remember that the absence of a known family history does not rule out the possibility of a genetic cause."

— Hengameh Zahed, MD, PhD

“Since at this time there are no disease-modifying treatments for HD, missing the diagnosis is not dangerous, per se. However, missing the diagnosis can lead to untreated symptoms and worse quality of life. Also, because HD has implications for the family, a missed diagnosis can result in missed opportunities for awareness and family planning. If disease-modifying treatments become available, then the danger in misdiagnosing [HD] becomes greater,” Dr. Zahed concludes.