Interviewing an HD Expert, Part 2: Current Diagnostic Criteria Should Be Updated

Last in a series. Read part one.

At the top of the list of why I can’t stand Huntington’s disease (HD) is the fact that my beloved wife, Jill, and daughter, Alexus, have it and, as a result, are going to suffer greatly. Another reason is that Jill and others suffer because their diagnosis comes too late in terms of the disease’s progression.

Diagnoses are currently based on criteria that often present years after the symptoms of HD have already started affecting a person’s life. Early diagnosis of HD can help patients in a number of ways, such as with preventive care and when filing for disability.

Jill and I believe that the manner in which Huntington’s is diagnosed should be updated, and so does a well-respected neurologist, Dr. Herwig Lange. Lange, who has more than 40 years of experience with Huntington’s disease, is a senior medical adviser for the nonprofit We Have a Face, which raises awareness and offers support for HD families internationally.

We recently spoke via Zoom because we wanted him to share why he thinks this way. One of his main points was this: “Any nonmotor symptoms that have been seen and can reliably be caused by, or at least associated with, Huntington’s disease should be part of diagnostic criteria.”

Recommended Reading

July 1, 2022 News by Lindsey Shapiro, PhD

Trial Update: Low Dose of AMT-130 Safe, Lowers Huntingtin After 1 Year

Several thousand people around the world seem to agree. Via the group’s website, Lange was able to ask members of the global Huntington’s disease community to participate in an anonymous survey. More than 5,000 patients and caregivers responded to the following question: “Should the diagnostic criteria for Huntington’s disease be reviewed and updated?”

Over 95% of respondents agreed that it should.

What Lange advocates as a solution for new criteria makes sense, mainly because changes in brain structure and function as a result of HD can be measured years before the current diagnostic clinical symptoms appear. He also believes that symptoms like depression should be added to the criteria.

“Looking at all possible symptoms that are associated with Huntington’s disease, especially those very common symptoms like a depressed mood, must be carefully looked at, and other causes of this depression must be excluded,” he said.

While mental health symptoms may be present, Lange says that most of the time, people look fine. “They don’t have hyperkinesia, nothing,” he said.

He believes that a formal HD diagnosis can be given sooner by scanning a patient’s brain to measure brain structure, metabolism, and function. Also invaluable are motor, cognitive, psychiatric, behavioral, and functional tests.

Once people are correctly diagnosed, they often experience a sense of relief, because the diagnosis helps them to understand why they are feeling and acting certain ways, such as having mood swings and trouble with processing thoughts, which are classic symptoms of someone who is gene-positive for HD.

Lange also brought up something Jill said she never really considered: the fact that sometimes knowing earlier gives patients a chance to speak to their loved ones about their experiences with HD.

He said that professionals can guide patients, but hearing tips and tricks from someone with HD is a different story, meaning that loved ones can learn firsthand about a patient’s coping strategies.

While Jill often talks about what she learned by being a caregiver for her late father, who also had Huntington’s, she never really talked to him about his tips and tricks.

Currently, the most accurate way to know that someone will suffer from HD symptoms is a genetic test. Lange wants to revisit the cutoff for a gene-positive HD diagnosis.

Huntington’s disease is caused by a genetic defect known as a CAG repeat of a particular chromosome, which causes part of the DNA to occur many more times than it’s supposed to. The cutoff for a gene-positive HD diagnosis is 36 or more repeats. But Lange has seen patients with 35 CAG repeats and overt motor symptoms. “Biology does not work like mathematics,” he said.

Knowing there are people like Lange and others who have devoted their lives to helping families affected by HD gives Jill and me hope that an HD diagnosis doesn’t have to continue to make people feel victimized by the rigidity of the medical world. We continue to hope that HD patient care will become less about what rules are in place and more about what’s good for the patient.

Note: Huntington’s Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Huntington’s Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Huntington’s disease.