HypermobileEhlers‐DanlosSyndrome: A Prodromal Subtype of Functional Movement Disorders?

Abstract

Background The phenotypic diversity of functional movement disorders (FMD) is considered a reflection of its many etiological subtypes. Ehlers‐Danlos syndrome (EDS), a joint hypermobility syndrome, also has variable phenotypes, which may include functional symptoms. Objectives To determine the prevalence of combined diagnoses of FMD and EDS. Methods We searched our Electronic Medical Records for patients carrying diagnostic codes for EDS and FMD. Further data extraction was done through chart review. Results Of 11,621 patients evaluated from January 1, 2016 to May 1, 2022, 16 carried a diagnosis of EDS, of which 9 (56.3%) were also diagnosed with FMD. Conversely, a diagnosis of FMD was documented in 190 (1.6%), of whom 16 (8.4%) were diagnosed with EDS. In all EDS‐FMD cases, the diagnosis of EDS preceded the onset and diagnosis of FMD. Conclusions The co‐occurrence of FMD and EDS is beyond chance, suggesting association. EDS may represent a prodromal subtype of, and share common pathophysiologic features with, FMD.

Presentation and physical therapy management of upper cervical instability in patients with symptomatic generalized joint hypermobility: International expert consensus recommendations

“…The physical therapy diagnosis involves confirmation that signs and symptoms appear consistent with UCI, or are a different diagnosis, or both UCI and another diagnosis. Table 10 lists differential diagnoses that share signs and symptoms with UCI, and therefore need to be considered as alternatives or as co-morbidities ( 1 , 6 , 39 , 40 ). Differentiating among these can be challenging, may require diagnostic imaging, and is beyond the scope of this article.…”

“…After the patient interview and physical examination, the therapist performs an evaluation, and provides a diagnosis, therefore need to be considered as alternatives or as co-morbidities (1,6,39,40). Differentiating among these can be challenging, may require diagnostic imaging, and is beyond the scope of this article.…”

“…On the other hand, patients waiting for a neurosurgical consultation might benefit from wearing a brace 24/7. A neurosurgeon specializing in S-GJH/UCI recommends patients perform gentle isometric resistance in the brace for a few minutes TABLE 10 Differential diagnoses that should be considered (1,6,39,40).…”

Functional neurological signs in hypermobile Ehlers–Danlos syndrome and hypermobile spectrum disorders with suspected neuropathic pain

“…Hypermobility self‐reports were collected in a mixed sample of FNDs ( N = 20, positive GJH in 55%) (Nistico et al., 2022 ) or in fixed dystonia ( N = 28, positive in 32%) (Kassavetis et al., 2012 ). Retrospective reviews of FND patients’ clinical notes revealed mentions of GJH ( N = 100, positive in 21%) (Delgado et al., 2022 ) or mentions of EDS diagnosis ( N = 190, positive in 8.4%) (Margolesky et al., 2022 ). In the general adult population, GJH prevalence ranges between 10% and 20% (Nicholson et al., 2022 ), hence the prevalence appearst o be higher in most of these FND samples.…”

“…or mentions of EDS diagnosis (N = 190, positive in 8.4%)(Margolesky et al, 2022). In the F I G U R E 1 Illustration of the presence of positive functional neurological signs (FNS) in the hypermobile Ehlers-Danlos syndrome (hEDS)/hypermobility spectrum disorder (HSD) patient population (N= 24).…”