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Abstract Details

Understanding Deficits in the Genetics, Recognition, and Management of Huntington Disease Among Neurologists: Results from a CME-Certified Survey
Movement Disorders
Movement Disorders Posters (7:00 AM-5:00 PM)
049
The goal of this study was to obtain a better understanding of the specific nature of gaps in knowledge and confidence in diagnosis and management of HD among neurologists'.
Huntington disease (HD) is caused by an abnormally expanded CAG nucleotide repeat near the N terminus of the huntingtin gene, resulting in a fatal neurodegenerative disease. There are approximately 40,000 individuals living with HD in the US, but >200,00 at risk. Data indicates that HD is underrecognized and poorly managed. 

A continuing medical education (CME)-certified clinical practice assessment consisting of 24 multiple-choice questions on knowledge, competence, and confidence was made available to neurologists in the United States. The questions were based on clinical trials, guidelines, and expert faculty recommendations regarding the appropriate recognition and management of HD. The program posted on the Medscape Âé¶¹´«Ã½Ó³»­ website on November 8, 2019, with responses collected through January 27, 2020.

A total of 150 neurologists completed the self-assessment during the study period. 41% of neurologists reported being “not confident” or “slightly confident” regarding their knowledge of the pathophysiology of HD, although 88% of these neurologists correctly identified the cause of HD. Although 89% of neurologists correctly identified that HD is an autosomal dominant condition, only 52% correctly identified the number of CAG trinucleotide repeats associated with a confirmatory diagnosis of HD. 48% reported being “not confident” or “slightly confident” regarding their knowledge of symptom management in HD, while 63% of neurologists correctly identified the common symptoms of HD and its management. Importantly, only 17% of neurologists correctly answered questions about disease modifying therapies being studies for HD.

This research yielded important insights into current clinical knowledge and confidence gaps of neurologists regarding the management of HD. Future efforts to address current knowledge gaps  and increase awareness are imperative to optimize care for this unrelenting disease.

Authors/Disclosures
Thomas Finnegan, Jr., PhD (Medscape Âé¶¹´«Ã½Ó³»­)
PRESENTER
Dr. Finnegan has nothing to disclose.
No disclosure on file
Erin Furr-Stimming, MD, FÂé¶¹´«Ã½Ó³»­ (University of Texas Health Science Center-Houston) Dr. Furr-Stimming has received personal compensation for serving as an employee of Help4HD International. Dr. Furr-Stimming has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Medscape. Dr. Furr-Stimming has received personal compensation in the range of $500-$4,999 for serving as a Consultant for MedPage. Dr. Furr-Stimming has received personal compensation in the range of $500-$4,999 for serving as a Consultant for PTC Therapeutics. Dr. Furr-Stimming has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Wave Life Sciences. Dr. Furr-Stimming has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Latus Bio. Dr. Furr-Stimming has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Atalanta Therapeutics. Dr. Furr-Stimming has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novartis. Dr. Furr-Stimming has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for SkyHawk Therapeutics. The institution of Dr. Furr-Stimming has received research support from Roche/Genetech. The institution of Dr. Furr-Stimming has received research support from Uniqure. The institution of Dr. Furr-Stimming has received research support from CHDI. The institution of Dr. Furr-Stimming has received research support from Huntington Study Group/Neurocrine Bioscienes. The institution of Dr. Furr-Stimming has received research support from NIH/University of Iowa. The institution of Dr. Furr-Stimming has received research support from HDSA. Dr. Furr-Stimming has received publishing royalties from a publication relating to health care. Dr. Furr-Stimming has received publishing royalties from a publication relating to health care. Dr. Furr-Stimming has a non-compensated relationship as a Committee member with Âé¶¹´«Ã½Ó³»­ UES Committee that is relevant to Âé¶¹´«Ã½Ó³»­ interests or activities.