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Ehlers-Danlos, Hypermobility Type

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https://www.readbyqxmd.com/read/29125009/exercise-beliefs-and-behaviours-of-individuals-with-joint-hypermobility-syndrome-ehlers-danlos-syndrome-hypermobility-type
#1
Jane V Simmonds, Anthony Herbland, Alan Hakim, Nelly Ninis, William Lever, Qasim Aziz, Mindy Cairns
PURPOSE: To explore exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type and to explore patient experiences of physiotherapy. METHODS: A cross sectional questionnaire survey design was used to collect quantitative and qualitative data from adult members of the Hypermobility Syndromes Association and Ehlers-Danlos Syndrome Support UK. Descriptive and inferential statistics were used to analyse the data...
November 10, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29041819/subjective-health-complaints-and-illness-perception-amongst-adults-with-joint-hypermobility-syndrome-ehlers-danlos-syndrome-hypermobilitytype-a-cross-sectional-study
#2
Lena Hope, Birgit Juul-Kristensen, Helene Løvaas, Camilla Løvvik, Silje Maeland
OBJECTIVE: To investigate the prevalence and severity of subjective health complaints and describe illness perception in a population of Joint Hypermobility Syndrome or Ehlers-Danlos Syndrome-Hypermobile Type. METHOD: This study was a postal survey with a questionnaire battery on demographic data, subjective health complaints inventory, and illness perception. A total of 110 individuals diagnosed with Joint Hypermobility Syndrome or Ehlers-Danlos Syndrome-Hypermobile Type from two specialized hospitals in Norway were offered participation...
October 17, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29032848/-ehlers-danlos-syndromes
#3
D-P Germain
Ehlers-Danlos syndromes (EDS) are a heterogeneous group of inheritable connective tissue disorders characterized by skin hyperextensibility, joint hypermobility and cutaneous fragility with delayed wound healing. Over and above these common features, they differ in the presence or absence of various organ and tissue abnormalities, and differences in genetic causal mechanisms and degree of severity. They are complex and multisystem diseases, with the majority being highly disabling because of major joint problems and neurosensory deficiencies, and in some cases, they may be life-threatening due to associated complications, especially vascular disorders...
October 9, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28986003/postural-tachycardia-in-hypermobile-ehlers-danlos-syndrome-a-distinct-subtype
#4
Mitchell G Miglis, Brittany Schultz, Srikanth Muppidi
INTRODUCTION: It is not clear if patients with postural tachycardia syndrome (POTS) and Ehlers-Danlos syndrome (hEDS) differ from patients with POTS due to other etiologies. We compared the results of autonomic testing and healthcare utilization in POTS patients with and without hEDS. METHODS: Patients with POTS+hEDS (n=20) and POTS controls without hypermobility (n=20) were included in the study. All patients underwent autonomic testing, and the electronic medical records were reviewed to determine the number and types of medications patients were taking, as well as the number of outpatient, emergency department, and inpatient visits over the prior year...
October 2, 2017: Autonomic Neuroscience: Basic & Clinical
https://www.readbyqxmd.com/read/28967365/hypermobility-the-ehlers-danlos-syndromes-and-chronic-pain
#5
REVIEW
Delfien Syx, Inge De Wandele, Lies Rombaut, Fransiska Malfait
Chronic widespread pain is a common complaint among individuals affected by generalised joint hypermobility. In the absence of other conditions that cause chronic pain, these individuals are usually diagnosed with joint hypermobility syndrome (JHS). JHS is a multifactorial trait with a strong genetic basis, but no specific genetic markers. Clinical overlap of JHS is seen with heritable connective tissue disorders, particularly with the Ehlers-Danlos syndrome, hypermobile type (hEDS). The Ehlers-Danlos syndromes (EDS) comprise a heterogeneous group of rare monogenic conditions that are characterised by joint hypermobility, skin and vascular fragility and generalised connective tissue friability, and are caused by genetic defects in an array of extracellular matrix genes...
September 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28924124/mobile-cecum-in-a-young-woman-with-ehlers-danlos-syndrome-hypermobility-type-a-case-report-and-review-of-the-literature
#6
Yoshihisa Fukuda, Yusuke Higuchi, Kanae Shinozaki, Yuji Tanigawa, Taro Abe, Nobuyoshi Hanaoka, Sunao Matsubayashi, Tomomi Yamaguchi, Tomoki Kosho, Koji Nakamichi
Ehlers-Danlos syndrome, hypermobility type (EDS-HT) is unexpectedly common and is associated with a high rate of gastrointestinal manifestations. We herein report the first documented case of mobile cecum associated with EDS-HT. A 21-year-old woman with repeated right lower abdominal pain was initially diagnosed with EDS-HT. Abdominal examinations performed in the supine position, such as CT and ultrasonography, showed no gross abnormalities. In contrast, oral barium gastrointestinal transit X-ray images obtained with changes in the patient's body position revealed position-dependent cecal volvulus with mobile cecum...
October 15, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28906340/contemporary-approach-to-joint-hypermobility-and-related-disorders
#7
Marco Castori, Alan Hakim
PURPOSE OF REVIEW: Joint hypermobility is a common, although largely ignored physical sign. Joint hypermobility is often asymptomatic but may be a feature of an underlying genetic disorder with systemic manifestations. The present article presents a comprehensive approach to considering joint hypermobility and clinically related issues in children and adults. RECENT FINDINGS: Ehlers-Danlos syndrome (EDS) is an umbrella term for various Mendelian connective tissue disorders sharing joint hypermobility, skin hyperextensibility, and tissue fragility...
December 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28870141/physical-and-psychosocial-characteristics-of-current-child-dancers-and-nondancers-with-systemic-joint-hypermobility-a-descriptive-analysis
#8
Leslie L Nicholson, Roger D Adams, Louise Tofts, Verity Pacey
Study Design Cross-sectional study. Background The effect of current participation in dance training on joint pain and instability, fatigue, and quality of life is unknown. Objectives To examine differences in joint pain, instability, gross motor skills, nonmusculoskeletal systemic manifestations, health-related quality of life (HRQoL), and fatigue between children with joint hypermobility syndrome/Ehlers-Danlos syndrome-hypermobility type (JHS/EDS-HT) who currently undertake formal dance training and those who do not...
October 2017: Journal of Orthopaedic and Sports Physical Therapy
https://www.readbyqxmd.com/read/28866967/a-humanisation-approach-for-the-management-of-joint-hypermobility-syndrome-ehlers-danlos-syndrome-hypermobility-type-jhs-eds-ht
#9
Carol J Clark, Isobel Knight
Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobility Type (JHS/EDS-HT) is a complex and multisystemic condition which significantly impacts on a person's health and well-being and is challenging for health professionals (HPs) to manage. People with JHS/EDS-HT and HPs recognise the individual nature and the complexities of the condition. There is a requirement to understand the condition within the context of the individual human dimensions of illness and healing. The aim of this paper is to explore the management of this condition using a theoretical model referred to as the Humanisation Framework...
December 2017: International Journal of Qualitative Studies on Health and Well-being
https://www.readbyqxmd.com/read/28781834/ehlers-danlos-hypermobility-type-in-an-adult-with-chronic-pain-and-fatigue-a-case-study
#10
Sarah Cohen, Fred Markham
Ehlers-Danlos syndrome hypermobility type (EDS-HT) is an underdiagnosed genetic connective tissue disorder that causes joint hypermobility and widespread pain. We present a patient with the chief complaint of shoulder pain, a long history of widespread joint pain, and associated comorbidities. EDS-HT provided a unifying diagnosis and direction for management.
August 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28716513/update-in-the-treatment-of-chronic-pain-within-pediatric-patients
#11
Jeffrey Rabin, Mackenzie Brown, Sean Alexander
Pediatric chronic pain is a challenging entity to evaluate and treat as it encompasses a wide variety of presentations often with overlapping psychosocial implications. Chronic pain may have significant effects upon a child's involvement in academic, athletic, and social participation. If unrecognized, it may have deleterious effects upon family interactions and stability. The treatment of pediatric chronic pain is focused on not only providing analgesia, but also on assisting the child and family with reintegrating into a more functional lifestyle...
July 2017: Current Problems in Pediatric and Adolescent Health Care
https://www.readbyqxmd.com/read/28667723/kyphoscolitic-type-of-ehlers-danlos-syndrome-with-prenatal-stroke
#12
Meriem Zahed-Cheikh, Barthélémy Tosello, Stéphanie Coze, Catherine Gire
BACKGROUND: The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS type VIA) is an autosomal recessive disorder characterized by connective tissue dysplasia. CASE CHARACTERISTICS: We report two children with perinatal stroke; accompanied by neonatal joint hypermobility, hypotonia; and early development of kyphoscoliosis. OUTCOME: Molecular analysis revealed a PLOD1 gene mutation. Our definitive diagnosis was a EDS VIA. MESSAGE: Prenatal brain stroke is a rare clinical feature of EDSVIA...
June 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28642694/ehlers-danlos-syndrome-hypermobility-type-impact-of-somatosensory-orthoses-on-postural-control-a-pilot-study
#13
Emma G Dupuy, Pascale Leconte, Elodie Vlamynck, Audrey Sultan, Christophe Chesneau, Pierre Denise, Stéphane Besnard, Boris Bienvenu, Leslie M Decker
Elhers-Danlos syndrome (EDS) is the clinical manifestation of connective tissue disorders, and comprises several clinical forms with no specific symptoms and selective medical examinations which result in a delay in diagnosis of about 10 years. The EDS hypermobility type (hEDS) is characterized by generalized joint hypermobility, variable skin hyperextensibility and impaired proprioception. Since somatosensory processing and multisensory integration are crucial for both perception and action, we put forth the hypothesis that somatosensory deficits in hEDS patients may lead, among other clinical symptoms, to misperception of verticality and postural instability...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28617417/a-cohort-of-17-patients-with-kyphoscoliotic-ehlers-danlos-syndrome-caused-by-biallelic-mutations-in-fkbp14-expansion-of-the-clinical-and-mutational-spectrum-and-description-of-the-natural-history
#14
Cecilia Giunta, Matthias Baumann, Christine Fauth, Uschi Lindert, Ebtesam M Abdalla, Angela F Brady, James Collins, Jahannaz Dastgir, Sandra Donkervoort, Neeti Ghali, Diana S Johnson, Ariana Kariminejad, Johannes Koch, Marius Kraenzlin, Nayana Lahiri, Bernarda Lozic, Adnan Y Manzur, Jenny E V Morton, Jacek Pilch, Rebecca C Pollitt, Gudrun Schreiber, Nora L Shannon, Glenda Sobey, Anthony Vandersteen, Fleur S van Dijk, Martina Witsch-Baumgartner, Johannes Zschocke, F Michael Pope, Carsten G Bönnemann, Marianne Rohrbach
PurposeIn 2012 we reported in six individuals a clinical condition almost indistinguishable from PLOD1-kyphoscoliotic Ehlers-Danlos syndrome (PLOD1-kEDS), caused by biallelic mutations in FKBP14, and characterized by progressive kyphoscoliosis, myopathy, and hearing loss in addition to connective tissue abnormalities such as joint hypermobility and hyperelastic skin. FKBP14 is an ER-resident protein belonging to the family of FK506-binding peptidyl-prolyl cis-trans isomerases (PPIases); it catalyzes the folding of type III collagen and interacts with type III, type VI, and type X collagens...
June 15, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28568908/a-magnetic-resonance-imaging-study-of-gastric-motor-function-in-patients-with-dyspepsia-associated-with-ehlers-danlos-syndrome-hypermobility-type-a-feasibility-study
#15
A Menys, D Keszthelyi, H Fitzke, A Fikree, D Atkinson, Q Aziz, S A Taylor
BACKGROUND: The clinical use of Magnetic Resonance Imaging (MRI) for investigating gastric motor function in dyspepsia is limited, largely due to protocol complexity, cost and limited availability. In this study, we explore the feasibility of a sub 60-minute protocol using a water challenge to assess gastric emptying, motility and accommodation in a cohort of Ehlers-Danlos Syndrome-Hypermobility type (EDS-HT) patients presenting with dyspepsia. METHODS: Nine EDS-HT patients (mean age 33, range: 26-50 all female) with a history of dyspepsia were recruited together with nine-matched controls...
September 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/28559755/multimodal-chiropractic-care-for-pain-and-disability-in-a-patient-diagnosed-with-ehlers-danlos-syndrome-hypermobility-type-a-case-report
#16
Richard G Strunk
OBJECTIVE: The purpose of this article is to describe the clinical response to multimodal chiropractic treatment of a patient diagnosed with Ehlers-Danlos syndrome, hypermobility type (EDS-HT), and chronic pain. CLINICAL FEATURES: A 22-year-old woman presented with severe chronic neck and low back pain, headaches, and bilateral hand pain and stiffness. In addition to these pain complaints, the patient had a family history of EDS, weekly or daily recurring joint dislocations, and upper and lower extremity joint hypermobility...
June 2017: Journal of Chiropractic Medicine
https://www.readbyqxmd.com/read/28484680/superior-semicircular-canal-dehiscence-in-a-patient-with-ehlers-danlos-syndrome-a-case-report
#17
Lawrance K Chung, Carlito Lagman, Daniel T Nagasawa, Quinton Gopen, Isaac Yang
Superior semicircular canal dehiscence (SSCD) is a bony defect in the middle cranial fossa floor that results in an abnormal connection between the inner ear and cranial vault. Although the etiology of SSCD remains unclear, an inappropriately thin or fragile temporal bone likely predisposes an individual towards developing SSCD. Ehlers-Danlos syndrome (EDS) constitutes a group of genetic connective tissue disorders caused by a defect in the production, processing, or structure of collagen, or its associated proteins...
April 6, 2017: Curēus
https://www.readbyqxmd.com/read/28482708/features-that-exacerbate-fatigue-severity-in-joint-hypermobility-syndrome-ehlers-danlos-syndrome-hypermobility-type
#18
Anne Maree Krahe, Roger David Adams, Leslie Lorenda Nicholson
AIM: To assess the prevalence, severity and impact of fatigue on individuals with joint hypermobility syndrome (JHS)/Ehlers-Danlos syndrome - hypermobility type (EDS-HT) and establish potential determinants of fatigue severity in this population. METHODS: Questionnaires on symptoms and signs related to fatigue, quality of life, mental health, physical activity participation and sleep quality were completed by people with JHS/EDS-HT recruited through two social media sites...
May 9, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28431150/the-natural-history-of-children-with-joint-hypermobility-syndrome-and-ehlers-danlos-hypermobility-type-a-longitudinal-cohort-study
#19
Mark C Scheper, Lesley L Nicholson, Roger D Adams, Louise Tofts, Verity Pacey
Objectives.: The objective of the manuscript was to describe the natural history of complaints and disability in children diagnosed with joint hypermobility syndrome (JHS)/Ehlers-Danlos-hypermobility type (EDS-HT) and to identify the constructs that underlie functional decline. Methods.: One hundred and one JHS/EDS-HT children were observed over 3 years and assessed at three time points on the following: functional impairments, quality of life, connective tissue laxity, muscle function, postural control and musculoskeletal and multi-systemic complaints...
April 18, 2017: Rheumatology
https://www.readbyqxmd.com/read/28344932/mutation-in-tnxb-gene-causes-moderate-to-severe-ehlers-danlos-syndrome
#20
Carolyn S Kaufman, Merlin G Butler
We report a 28-year-old female who presented with severe joint pain, chronic muscle weakness, Raynaud's phenomenon, and hypermobility. She was found to have a 6074A > T nucleotide transition in the TNXB gene causing an amino acid protein change at Asp2025Val classified as likely pathogenic. We add this clinical report to the literature and classical human disease gene catalogs to identify this specific mutation as disease-causing. This gene variant was reported previously in a different 36-year-old patient who shared our patient's symptoms of joint hypermobility, skeletal and joint pain, skin elasticity and musculoskeletal problems, thereby causing a more severe presentation than seen in the hypermobility type of Ehlers-Danlos syndrome (EDS)...
May 27, 2016: World Journal of Medical Genetics
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