Joint hypermobility syndrome

BACKGROUND: Chronic joint hypermobility has been attributed to repetitive ligamentous microtrauma, benign joint hypermobility syndrome (BJHS), or genetic connective tissue disorders that lead to pain and functional impairment, especially among females. Chronic wrist hypermobility (CWH) prevalence, etiology, and effects on proprioception, strength, and function have yet to be established. PURPOSE: This pilot study aimed to determine the CWH prevalence among adults; its effects on proprioception, strength, and function; and whether these effects are gender based...

BACKGROUND: 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 of Delayed Onset Muscle Soreness (DOMS) in individuals with JHS to non-hypermobile individuals in response to exercise. HYPOTHESES/PURPOSE: The purpose of this study was to investigate JHS and its effects on DOMS and its recovery time...

Ehlers-Danlos syndrome (EDS) belongs to a spectrum of rare heritable connective tissue disorders and is characterised by hyperextensibility, joint hypermobility and tissue fragility. Peripheral blood mononuclear cells (PBMCs) from a vascular EDS (vEDS) patient, known as the rarest EDS subtype, carrying a heterozygous nonsense mutation c.430C > T (p.Q105*) in the COL3A1 gene, which is essential for type III collagen synthesis, were reprogrammed into induced pluripotent stem cells (iPSCs). The generated iPSCs exhibit high expression of pluripotency-associated markers, possess trilineage differentiation capacity and reveal a normal karyotype...

BACKGROUND: Hypermobile Ehlers-Danlos Syndrome (hEDS) is a connective tissue disorder characterized by joint hypermobility and other systemic manifestations, such as cardiovascular symptoms, musculoskeletal pain, and joint instability. Cardiovascular symptoms, such as lightheadedness and palpitations, and types of dysautonomia, including postural orthostatic tachycardia syndrome (POTS), are frequently reported in adults with hEDS and have been shown to negatively impact quality of life (QoL)...

BACKGROUND: Conditions such as hypermobility spectrum disorders (HSD) and Ehlers-Danlos syndrome (EDS) are most often diagnosed when an individual has joint flexibility beyond the normal physiological limits. Additional characteristics and symptoms include pain and fatigue with individuals also being more likely to report feelings of anxiety and depression. Due to the varied presentation of these conditions, there is a lack of understanding amongst the various healthcare professionals (HCPs) individuals present to, leading to delayed diagnoses and negative experiences for the individuals themselves...

Ehlers-Danlos syndrome (EDS) consists of a heterogeneous group of congenital collagen formation disorders characterised by skin hyperextensibility, atrophic scarring, and generalized joint hypermobility. Collagen vascular disorders have been implicated in increased incidence and severity of radiation toxicities; however, there are limited reports on the safety of radiation therapy with EDS. We identified all patients with EDS who received adjuvant conventional and hypofractionated breast radiation therapy at our institution and reviewed patient, treatment, and toxicity characteristics...

BACKGROUND: The pathology of dorsal wrist pain in gymnasts without abnormal radiographic findings remains unclear. PURPOSE/HYPOTHESIS: The purpose of this study was to identify abnormal wrist sagittal kinematics in gymnasts with dorsal wrist pain. It was hypothesized that gymnasts with dorsal wrist pain would show abnormal sagittal kinematics with reversible hypermobility of the intercarpal joint. STUDY DESIGN: Controlled laboratory study...

Ehlers-Danlos syndromes (EDS) is an umbrella term describing 14 types, of which 13 are rare and monogenic, with overlapping features of joint hypermobility, skin, and vascular fragility, and generalised connective tissue friability. Hypermobile EDS currently has no identified genetic cause. Most of the rare monogenic EDS types can have neurological features, which are often part of major or minor diagnostic criteria for each type. This review aims to highlight the neurological features and other key characteristics of these EDS types...

[This corrects the article DOI: 10.3389/fmed.2023.1039223.].

Autism spectrum disorder (ASD) and joint hypermobility (JH) are considered two different etiological and clinical entities that most often appear in childhood. Despite growing increased research showing a co-occurrence for both conditions, a link between them is rarely established in clinical settings, and the relationship between ASD and JH has not so far been completely investigated in all age groups of ASD children. This preliminary study examined a cohort of 67 non-syndromic ASD children aged 2-18 years (sex ratio M:F = 12:1) showing different degrees of cognitive impairment and autism severity, using the Beighton scale and its revised version...

MBTPS1 (NM_003791.4) encodes Site-1 protease, a serine protease that functions sequentially with Site-2 protease regulating cholesterol homeostasis and endoplasmic reticulum stress response. MBTPS1 pathogenic variants are associated with spondyloepiphyseal dysplasia, Kondo-Fu type (MIM:618392; cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome, and Silver-Russell-like syndrome). In this report, we describe a 14-year-old female with a complex medical history including white matter volume loss, early-onset cataracts, retrognathia, laryngomalacia, inguinal hernia, joint hypermobility, feeding dysfunction, and speech delay...

INTRODUCTION: The genu recurvatum is characterized by a hyperextension deformity of the knee in the sagittal plane. Among its causes are conditions such as arthrogryposis, cerebral palsy, poliomyelitis, sequelae of tibial tuberosity fracture and some syndromes with generalized joint hypermobility. Treatment of this deformity can be challenging and, to date, aggressive methods such as femur or tibial osteotomies are the most used for its correction. OBJECTIVE: This study aimed to describe a new surgical technique for correcting genu recurvatum...

BACKGROUND: There is frequent overlap between and the connective tissue diseases Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome (JHS/EDS) and disorders of the gut-brain interaction (DGBIs). AIMS: Because not all JHS/EDS patients develop DGBIs, we sought to determine whether secondary environmental triggers may lead to development of irritable bowel syndrome (IBS) and functional dyspepsia (FD) in patients with JHS/EDS. METHODS: We sent electronic surveys to 253 patients from a JHS/EDS support group, with responses collected over one year...

Generalized joint hypermobility (GJH) often leads clinicians to suspect a diagnosis of Ehlers Danlos Syndrome (EDS), but it can be difficult to objectively assess. Video-based goniometry has been proposed to objectively estimate joint range of motion in hyperextended joints. As part of an exam of joint hypermobility at a specialized EDS clinic, a mobile phone was used to record short videos of 97 adults (89 female, 35.0 ± 9.9 years old) undergoing assessment of the elbows, knees, shoulders, ankles, and fifth fingers...

OBJECTIVES: Comorbidities associated with venous origin chronic pelvic pain (VO-CPP) were evaluated pre and post venous treatment to assess change. MATERIALS AND METHODS: 45 women with VO-CPP were treated with venous stenting and/or embolization. Four surveys assessed symptoms pre- and post-treatment: IPPS (chronic pelvic pain), PUF (interstitial cystitis), OHQ (dysautonomia), and modified ROME III (IBS). Prevalence of joint hypermobility was investigated. RESULTS: Ages were 18-65...

Ehlers-Danlos syndrome (EDS) type IV is a hereditary autosomal dominant disease associated with skin and vascular fragility, hyperextensibility and joint hypermobility. Spontaneous arterial rupture is one of its higher-risk features.The authors describe a case of a woman with EDS type IV who presented with a spontaneous breast haematoma associated with a pseudoaneurysm of a branch of the left internal mammary artery. The patient underwent a minimally invasive endovascular approach that was uneventful. However, 6 months later, she presented in the emergency room with a similar episode on the contralateral breast...

OBJECTIVES: Hypermobile Ehlers-Danlos Syndrome (hEDS) is a hereditary connective tissue disorder characterised by joint hypermobility, chronic musculoskeletal pain, and skin abnormalities and easy bruising. Morphological and functional microvascular status has not yet been studied in hEDS, and dermal thickness (DT) has been poorly investigated, therefore the aim of our study was to investigate it. METHODS: We conducted a study to investigate microvascular morphology by nailfold videocapillaroscopy (NVC), peripheral blood perfusion (PBP) by laser speckle contrast analysis (LASCA), and DT by high-frequency skin ultrasound (22 MHz probe) in adults with hEDS compared to sex- and age-matched controls...

The Ehlers Danlos syndromes (EDS) are a heterogenous group of inherited connective tissue disorders characterized by generalized joint hypermobility and instability, tissue fragility and multiple functional disorders. The EDS hypermobility type (hEDS) is the most common but the mildest subtype of EDS and is defined by joint involvement. hSED diagnosis is based on clinical criteria because no genetic factors nor molecular basis have yet been identified. Since chronic pain constitutes one of hESD main symptoms, the diagnosis is frequently suspected although the syndrome is rare, with a prevalence estimated to be 1/10...

PURPOSE: This purpose of this systematic review was to evaluate the outcomes of hip arthroscopy in patients with generalized joint hypermobility (GJH). METHODS: A systematic review was performed according to Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA). . An electronic record search was performed in PubMed, Web of Science, Cochrane library and Embase A two stage title/abstract and full text screening was performed using the following inclusion criteria: 1) observational studies, cohort studies and randomised controlled trials, 2) Describing more than 5 patients with a mean age over 18 years and GJH, 3) undergoing arthroscopy of the hip, 4) Reporting patient reported outcome measures (PROMS), return to sport or complications/re-operations, 5) Published in English...

Individuals living with hypermobile Ehlers-Danlos syndrome (hEDS) and Hypermobility Spectrum Disorders (HSD) have reported feeling discredited and unsupported by healthcare professionals. However, the level of knowledge about hEDS/HSD among maternity staff remains unknown. Informed by patient and public involvement, this research aimed to investigate maternity staff's knowledge and confidence in supporting people with hEDS/HSD, examine people with hEDS/HSD's experiences of perinatal care, and co-create tools to help maternity staff support people childbearing with hEDS/HSD...