Abstract Details

Title Functional Movement Disorders in Patients with Ehlers-Danlos Syndrome

Topic Movement Disorders

Presentation(s) P1 - Poster Session 1 (9:00 AM-5:00 PM)

Poster/Presentation
Number 245

Objective To explore the association between the diagnoses of Functional movement disorder (FMD) and Ehlers-Danlos syndrome (EDS).

Background FMD is a common but poorly understood condition. EDS, a joint hypermobility syndrome, can be suspected clinically, but detecting a pathogenic mutation confirms the diagnosis of most subtypes. Like FMD, EDS has variable phenotypes.

Design/Methods We mined our EMR for the coded diagnoses of FMD and/or EDS among all unique patients seen by 5 Movement Disorder specialists from 2016 to 2021. For data extraction, individual chart review was undertaken for all patients carrying a diagnosis EDS. All FMD diagnoses were made by a Movement Disorder specialist. Patient demographics, FMD phenomenology, medical comorbidities, and genetic information were recorded.

Results Of 11,243 patients, 15 (0.13%) carried a diagnosis of EDS. Of these, 8 (53.3%) were diagnosed with FMD. The demographics and clinic characteristics of our EDS cohort are summarized in Table 1. Pathologic variants associated with EDS were detected in 3 patients; and variants of unknown significance in 2. FMD phenomenology included tremor, dystonia, myoclonus, tics, and 1 had mixed dystonia and chorea. Common comorbidities included anxiety, insomnia, depression, POTS, migraine, fibromyalgia, and IBS.

Conclusions FMD was prevalent among our EDS patients. An EDS diagnosis may be a risk factor for the development of FMD, and the association may be bidirectional. EDS and associated chronic pain may prime the brain for FMD. Alternatively, somatoform disorders with chronic pain may lead to the presumed, and documented, diagnosis of EDS and FMD would be a manifestation of the underlying somatoform disorder. Lastly, this association may be a function of both these diagnoses being more common in difficult-to-classify neurological presentations. Future research should investigate both the factors that lead to a charted EDS diagnosis and this putative association between EDS genotypes/phenotypes and FMD to help elucidate the yet unclear pathophysiology of FMD.

Authors/Disclosures
Jason H. Margolesky, MD, FAAN (University of Miami School of Medicine) PRESENTER	Dr. Margolesky has nothing to disclose.
Dyanet L. Alvarez, MD	Dr. Puentes has nothing to disclose.
Danielle S. Shpiner, MD	An immediate family member of Dr. Shpiner has received personal compensation for serving as an employee of University of Miami. Dr. Shpiner has received personal compensation in the range of $0-$499 for serving as an officer or member of the Board of Directors for Mission MSA. The institution of Dr. Shpiner has received research support from American Parkinson's Disease Association. The institution of Dr. Shpiner has received research support from CurePSP. The institution of Dr. Shpiner has received research support from Parkinson's Foundation. Dr. Shpiner has a non-compensated relationship as a COE Medical Director with Parkinson's Foundation that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Medtronic that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Boston Scientific that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Abbott that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Abbvie that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Ipsen that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Amneal that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Michael J. Fox Foundation that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a CoC Medical Director with CurePSP that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a COE Medical Director with Mission MSA that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Merz that is relevant to AAN interests or activities.
Henry P. Moore, MD (University of Miami - Miller School of Medicine)	Dr. Moore has received personal compensation in the range of $0-$499 for serving as a Consultant for Abbvie. Dr. Moore has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Ipsen Pharma. The institution of Dr. Moore has received research support from Sage Therapeutics. The institution of Dr. Moore has received research support from Bukwang Pharmaceutical. The institution of Dr. Moore has received research support from Neurocrine. The institution of Dr. Moore has received research support from CDHI Foundation. The institution of Dr. Moore has received research support from MODUS Outcomes LLC. The institution of Dr. Moore has received research support from University of Kansas Center for Research.
Corneliu C. Luca, MD (University of Miami)	Dr. Luca has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Boston Scientific. Dr. Luca has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Signant Health. Dr. Luca has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Abbott.
Carlos Singer, MD (University of Miami)	Dr. Singer has nothing to disclose.
Ihtsham Haq, MD, FAAN (University of Miami Miller School of Medicine)	The institution of Dr. Haq has received research support from NINDS. The institution of Dr. Haq has received research support from the Parkinson's Foundation.

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