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Addressing Undereducation on Huntington's Disease Among Neurologists

Updated: 11:41 AM - May 4, 2024

In the realm of neurological disorders, Huntington's disease (HD) stands as a complex and devastating condition, yet it remains a challenge for many neurologists to accurately diagnose and manage. Despite significant advancements in medical knowledge and the overwhelming support and awareness driven by HD organizations, there still exists a concerning gap in understanding HD among healthcare professionals, leading to misdiagnoses, delayed treatments, and unnecessary suffering for patients and their families.

Consider this true scenario of a patient visiting a neurologist (Suffolk County, Long Island, NY), with symptoms that could suggest various conditions, such as involuntary movements, cognitive decline, and emotional disturbances. In this case, the patient received a diagnosis of Bell's palsy, a facial paralysis condition, which usually resolves on its own within six months. For over two years this patient was continually treated for Bell's palsy. However, the patient's son was diagnosed by a Neurologist with HD and exhibits all classic signs of the disease. Scientifically, if the son tested positive for Huntington's disease, it would be impossible for the father not to have inherited the condition. It's necessary to emphasize that the mother is not afflicted with Huntington's disease; genetic testing has confirmed that the hereditary gene originates from the paternal lineage.

This actual scenario underscores a critical issue: the failure of some neurologists to listen and recognize the familial nature of Huntington's disease and its implications for genetic inheritance. While Bell's palsy is a legitimate diagnosis, overlooking the possibility of HD in a patient with a positive family history represents a glaring gap in medical education and awareness.

Neurologists are often the frontline healthcare providers for individuals experiencing neurological symptoms. Their ability to accurately diagnose and initiate appropriate treatment plans is crucial in managing conditions like HD, where early intervention can significantly impact outcomes. However, in many situations inadequate education on rare diseases like HD can lead to missed opportunities for timely intervention and support.

It is essential for neurologists to obtain comprehensive training on the recognition, diagnosis, and management of Huntington's disease. This includes understanding its genetic basis, recognizing the diverse clinical manifestations, and implementing appropriate genetic counseling and support services for affected individuals and their families. Moreover, raising awareness about HD among healthcare professionals is imperative to ensure that patients receive the care and support they need. Continuing medical education programs, conferences, and resources dedicated to Huntington's disease will empower neurologists to better serve their patients. In addition to these vital resources, medical professionals can learn a great deal about HD by associating themselves with Huntington's organizations within their region.

Medical professionals must prioritize achieving an accurate diagnosis due to the implications following the potential passing of their patient. The patient's death certificate holds immense importance for the family, as well as for data collection and dissemination purposes. In the case of Huntington's disease, this data is valuable due to the fact that HD is still considered a "rare" disease. In my opinion and experience, HD is rarely discussed, rarely diagnosed, and rarely reported!

As explained in "Cause of Death and Death Certificate" by the College of American Pathologists publication (2006):

"The death certificate is also a source for local, state, national, and international mortality statistics used for public health purposes and by the government for the planning and funding of programs and research. Further, death certificate data are useful to the medical profession for identifying disease etiologies, evaluating diagnostic or therapeutic techniques, examining medical or mental health conditions that may be found in specific groups of people, and pointing to areas where medical research may have the greatest impact on reducing mortality."

In conclusion, the neurologist not testing his patient for Huntington's disease (especially when provided with genetic history and with the patient's request to be tested), underscores the urgent need for improved education and awareness among healthcare professionals. The patient's son reported the following response from the neurologist: "No…you don’t have HD…your movements are not the same for Huntington’s disease…let’s double your medications and see what happens."  

By addressing this gap in knowledge, we can ensure that individuals with HD receive timely and accurate diagnoses, leading to improved quality of life and better outcomes for patients and their families.

As noted in our second documentary, "The Purple Road," (2021) we reported the following lack of education received by many medical professionals:

  • Neurology Residency Training for Huntington's disease: only a few hours of education unless the Trainee requests additional education.

  • The Movement Disorder Fellowship Training for Huntington's Disease: for many programs, this is only a few hours of education even within centers that have HD- specific clinics.

Watch the film for more information.

*The scenario described within the article is based on an actual case. Additional text via the update was permitted by the family. More to come.



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