EDS / Hypermobility

Scapular dyskinesis is observed in 61% of overhead athletes (Burn et al., 2016). For most of them, it remains asymptomatic. However, scapular dyskines…

Patients with Ehlers-Danlos syndrome (EDS) frequently report symptoms such as chronic pain and muscular fatigue that can heavily impact their quality of life. The treatment for many of the physical symptoms of EDS is focused on supportive care, which may include physical therapy and exercise programs. However, many patients will experience difficulty in deriving benefits from these activities due to significant pain and fatigue from physical activity. We report a case of a 39-year-old female with a history of EDS whose physical capabilities were severely impacted by their chronic pain and fatigue symptoms. After little progress was made with their current treatment plan of analgesics, manual therapy, exercise, and physical therapy, the patient was supplemented with creatine monohydrate due to its studied benefits in muscular strength and endurance for athletes. Following supplementation, the patient reported significant benefits in their muscular fatigue symptoms, allowing them to engage in daily activities and exercises more effectively. This case demonstrates a potential addition to the treatment of EDS that can improve a patient's quality of life.

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Kindergenome EDS is helping patients suspecting Ehlers-Danlos syndrome (EDS) or hypermobile EDS (hEDS) with genetics counseling by expert Dr Golder Wilson, MD PhD for DNA connective tissue panel testing interpretation and diagnostic assistance.

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Study Objectives:Because of associated abnormalities affecting connective tissue in various organs including airways, hypermobility syndrome has been associated with high risk for the development sleep apnea. Ehlers-Danlos syndrome (EDS) and Marfan ...

Background Hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are connective tissue disorders marked by chronic pain, joint instability, and extensive multisystem involvement. Despite affecting an estimated 1 in 500 individuals, these conditions remain poorly understood, and current diagnostic categories lack clarity and consistency. This study aimed to characterize the clinical presentation, comorbidities, and healthcare burden of individuals with hEDS and HSD through a large-scale international survey. Methods and Findings A cross-sectional, anonymous online survey was distributed globally between September 2023 and March 2024. Of 9,258 responses, 3,906 participants met inclusion criteria and were included in analysis. The 418-item questionnaire covered symptom domains, diagnoses, healthcare access, and quality of life. Responses were statistically analyzed using chi-square and Mann-Whitney U tests with Bonferroni correction and compared to the All of Us dataset (n=354,400). Participants reported high rates of gastrointestinal disorders (84.3% hEDS, 69.0% HSD), with 21.2% of hEDS participants diagnosed with gastroparesis and 7.1% requiring feeding devices. Dysautonomia was common, affecting 71.4% of those with hEDS and 40.3% with HSD (p0.0001), with postural orthostatic tachycardia syndrome (POTS) as the most frequently reported subtype. Neurological complications were also prevalent, with hEDS participants reporting significantly higher rates of tethered cord syndrome (4.6%, 0.9%), Chiari malformation (6.3%, 0.9%), and small fiber neuropathy (10.0%, 4.4%) compared to those with HSD. Chronic pain was nearly universal (98.8% hEDS, 92.7% HSD). On average, hEDS participants reported 24 comorbid diagnoses and HSD participants 17, with diagnostic delays averaging over 20 years. Notably, 50% of those reporting HSD met hEDS criteria, while 26% of those reporting hEDS did not meet full criteria, underscoring persistent diagnostic uncertainty. Conclusions This global survey underscores the profound multisystemic burden, diagnostic ambiguity, and unmet clinical needs faced by individuals with hEDS and HSD. The high prevalence of immune-mediated, neurological, gastrointestinal, and autonomic dysfunctions, alongside the frequent identification of triggering events such as infections and hormonal transitions, challenges the conventional framework that defines these disorders as purely connective tissue in origin. Instead, our findings support the hypothesis that hEDS and/or HSD may represent complex syndromes in which connective tissue fragility may be a downstream consequence rather than the primary cause. This reframing has critical implications for diagnosis, pathophysiology, and therapeutic development, and highlights the need for mechanistic studies that explore distinct etiologies beyond the connective tissue paradigm. ### Competing Interest Statement The authors have declared no competing interest. ### Funding Statement This study was funded by the Matlz Foundation, MUSC Foundation, Connective Tissue Coalition ### Author Declarations I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained. Yes The details of the IRB/oversight body that provided approval or exemption for the research described are given below: All participants were adults (≥18) and provided informed consent by choosing to complete the online survey, as approved by the Medical University of South Carolina Institutional Review Board (IRB) and determined to be exempt under category 2. I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals. Yes I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance). Yes I have followed all appropriate research reporting guidelines, such as any relevant EQUATOR Network research reporting checklist(s) and other pertinent material, if applicable. Yes All data produced in the present work are contained in the manuscript

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Download Table | Ehlers-Danlos syndromes (EDS) types according to the 2017 revised nosology. from publication: Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts | The αvβ3 integrin, an endothelial cells’ receptor-binding fibronectin (FN) in the extracellular matrix (ECM) of blood vessels, regulates ECM remodeling during migration, invasion, angiogenesis, wound healing and inflammation, and is also involved in the epithelial mesenchymal... | Integrins, Fibroblast and Regulations | ResearchGate, the professional network for scientists.

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Reported less pain and anxiety, better sleep

Patients with Ehlers-Danlos syndrome (EDS) have many associated symptoms of unclear cause, most recently suggested to be due to small fiber neuropathy (SFN). Small fiber neuropathies are sorely underestimated and with minimal treatment options. We report 2 cases of patients with EDS with presumed im …

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Objective A systematised review compared validity and reliability of the Beighton Score to those of other commonly used scores for identification of generalised joint hypermobility (GJH) Methods Inclusion criteria: English language, studies on humans, all types of study designs, publications in academic journals, publications from the year two thousand onwards, publications in print and theses. Exclusion criteria: studies not in English, studies measuring single joints only, studies published before the year 2000, cadaveric studies, papers with only abstracts available. An electronic literature search was undertaken of Pub Med/MEDLINE, Embase, Scopus, Cochrane Database, SPORT Discus, Pedro databases, followed by a manual search. The final review included 73 papers. The PRISMA (2021) COSMIN (2010) guidelines and CASP (2019) criteria were used to evaluate methodological quality and bias. Results The Beighton Score’s Intra-rater and inter-rater reliability ranged between ICC 0.74-0.99 and ICC 0.72-0.98 respectively. The BS has reasonable intra-rater and inter-rater reliability, however validity cannot be accurately determined as incorporation bias was identified as an issue in study methodology, not previously identified in the literature. Conclusion Paucity of data prevented accurate assessment of other scoring systems. Urgent research is required to clarify these issues and compare the BS to other tests. No source of funding was received in in undertaking this review. This review was not registered. ### Competing Interest Statement The authors have declared no competing interest. ### Funding Statement This study did not receive any funding ### Author Declarations I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained. Yes The details of the IRB/oversight body that provided approval or exemption for the research described are given below: I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals. Yes I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance). Yes I have followed all appropriate research reporting guidelines and uploaded the relevant EQUATOR Network research reporting checklist(s) and other pertinent material as supplementary files, if applicable. Yes All data produced in the present study are available in the supplementary materials * GJH : Generalised Joint Hypermobility JH : Joint hypermobility HSD : Hypermobile Spectrum Disorder H-EDS : Hypermobile Ehlers Danlos Syndrome BS : Beighton Score ROM : Range of motion HDTC : Hereditable Disorders of Connective Tissue

Previous research has reported that people with Joint Hypermobility Syndrome (JHS) and Ehlers-Danlos Syndrome (EDS) generally experience a high rate of muscular injury and pain. However, there is limited research comparing the recovery times and length ...

Scientific Reports - Impairment of lung volume perception and breathing control in hypermobile Ehlers-Danlos syndrome

Hypermobile Ehlers-Danlos syndrome is a connective tissue disorder. When Sarah Lazarus' daughter was diagnosed with it, she discovered that the majority of cases are going undiagnosed for decades.

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Objective: To report increased risks of Botulinum Toxin Injection for cervical dystonia and migraine in patients with Hypermobility Ehlers Danlos Syndrome. Background: Ehlers-Danlos syndrome (EDS) is a group of inherited disorders of connective tissues. The prevalence of hypermobility form of EDS is unknown, although it is at least 1 in 5000. Myalgia (muscle pain) and […]

Ehlers–Danlos syndrome (EDS) is a group of inherited connective tissue disorders that may present with a wide range of multisystemic symptoms. Hypermobile EDS, one of 13 identified subtypes of EDS, is the only variant without a known associated ...

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