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Joint hypermobility syndrome

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https://www.readbyqxmd.com/read/29032848/-ehlers-danlos-syndromes
#1
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/29024828/a-classical-ehlers-danlos-syndrome-family-with-incomplete-presentation-diagnosed-by-molecular-testing
#2
Marina Colombi, Chiara Dordoni, Valeria Cinquina, Marina Venturini, Marco Ritelli
The 2017 EDS revised nosology indicates that minimal criteria suggestive for classical Ehlers-Danlos syndrome (cEDS) are skin hyperextensibility plus atrophic scarring together with either generalized joint hypermobility (gJHM) and/or at least three minor criteria that include cutaneous features and gJHM complications. Confirmatory molecular testing is obligatory to reach a final diagnosis. Although the large majority of the patients presents with these clinical features, some do not and might remain undiagnosed or misdiagnosed...
October 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29017019/results-of-combined-single-session-arthrocentesis-and-dextrose-prolotherapy-for-symptomatic-temporomandibular-joint-syndrome-a-case-series
#3
Burak Cezairli, Efe Can Sivrikaya, Mehmet Melih Omezli, Ferhat Ayranci, Neslihan Seyhan Cezairli
OBJECTIVE: Arthrocentesis and prolotherapy are nonsurgical treatments for temporomandibular joint (TMJ) diseases. This study aimed to evaluate the treatment of hypermobility, pain, and displacement of the TMJ by consecutively performing arthrocentesis and prolotherapy in the same session. MATERIALS AND METHODS: In this study, 10 adults with disc displacement and painful, hypermobile TMJ were selected. Arthrocentesis and prolotherapy were consecutively performed using a 30% dextrose solution that was simultaneously injected into five areas: posterior disc attachment, superior joint space, superior and inferior capsular attachments, and stylomandibular ligament...
October 10, 2017: Journal of Alternative and Complementary Medicine: Research on Paradigm, Practice, and Policy
https://www.readbyqxmd.com/read/28971234/a-novel-dominant-col11a1-mutation-in-a-child-with-stickler-syndrome-type-ii-is-associated-with-recurrent-fractures
#4
M G Vogiatzi, D Li, L Tian, J P Garifallou, C E Kim, H Hakonarson, M A Levine
This case describes a child with blindness, recurrent low-impact fractures, low bone mass, and intermittent joint pain who was found to have a novel missense mutation in COL11A1, consistent with Stickler syndrome type II. The case illustrates the phenotypic variability of the syndrome, which may include increased fragility in childhood. INTRODUCTION: Stickler syndrome type II is an autosomal dominant disorder caused by mutations in the gene that encodes the type XI collagen chain α1 (COL11A1)...
October 3, 2017: Osteoporosis International
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/28959454/generalised-joint-hypermobility-and-neurodevelopmental-traits-in-a-non-clinical-adult-population
#6
Martin Glans, Susanne Bejerot, Mats B Humble
BACKGROUND: Generalised joint hypermobility (GJH) is reportedly overrepresented among clinical cases of attention deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD) and developmental coordination disorder (DCD). It is unknown if these associations are dimensional and, therefore, also relevant among non-clinical populations. AIMS: To investigate if GJH correlates with sub-syndromal neurodevelopmental symptoms in a normal population. METHOD: Hakim-Grahame's 5-part questionnaire (5PQ) on GJH, neuropsychiatric screening scales measuring ADHD and ASD traits, and a DCD-related question concerning clumsiness were distributed to a non-clinical, adult, Swedish population (n=1039)...
September 2017: BJPsych Open
https://www.readbyqxmd.com/read/28933136/coexistence-of-spondyloarthritis-and-joint-hypermobility-syndrome-rare-or-unknown-association
#7
J B Pinto Carneiro, T Pinto de Souza, T M L Antunes de Oliveira, S L Euzébio Ribeiro
We report two cases of siblings presenting coexisting non-radiographic axial spondyloartrhritis and joint hypermobility syndrome, complaining of back pain with morning stiffness, enthesitis, peripheral arthralgia, high erythrocyte sedimentation rate and C-reactive protein level and positive HLA-B27. The association of these two conditions is rare, but especially interesting in view of their contrasting features, one causing axial skeleton stiffness, the other a wider range of peripheral joint movements. Coexistence of these two opposite disorders causes confusion in diagnosis and management, resulting in lower quality of life for patients, as they are in pain from the early stages...
September 21, 2017: Reumatismo
https://www.readbyqxmd.com/read/28923431/both-anxiety-and-joint-laxity-determine-the-olfactory-features-in-panic-disorder
#8
Emma Burón, Antonio Bulbena, Andrea Bulbena-Cabré, Sílvia Rosado, Guillem Pailhez
Previous research showed a high sensitivity in sensorial modalities in panic disorder (PD). This disorder has been consistently associated to the joint hypermobility syndrome (JHS). In non-clinical samples, this collagen alteration has been also related to an enhanced sensitivity in some sensorial modalities. The main aim of this study is to explore the olfactory functioning in PD in relation to JHS. Sixty patients with PD and sixty healthy controls performed the Sniffin' Sticks Test (SST) (threshold subtest), and completed the Affective Impact of Odors scale (AIO), the Relational Scale of Olfaction (EROL), and the Odor Awareness Scale (OAS)...
September 11, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28906340/contemporary-approach-to-joint-hypermobility-and-related-disorders
#9
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...
September 12, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28881227/test-retest-reliability-and-smallest-detectable-change-of-the-bristol-impact-of-hypermobility-bioh-questionnaire
#10
S Palmer, S Manns, F Cramp, R Lewis, E M Clark
OBJECTIVE: The Bristol Impact of Hypermobility (BIoH) questionnaire is a patient-reported outcome measure developed in conjunction with adults with Joint Hypermobility Syndrome (JHS). It has demonstrated strong concurrent validity with the Short Form-36 (SF-36) physical component score but other psychometric properties have yet to be established. This study aimed to determine its test-retest reliability and smallest detectable change (SDC). DESIGN: A test-retest reliability study...
August 24, 2017: Musculoskeletal Science & Practice
https://www.readbyqxmd.com/read/28870141/physical-and-psychosocial-characteristics-of-current-child-dancers-and-nondancers-with-systemic-joint-hypermobility-a-descriptive-analysis
#11
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
#12
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/28836281/periodontal-manifestations-of-ehlers-danlos-syndromes-a%C3%A2-systematic-review
#13
Ines Kapferer-Seebacher, Pernilla Lundberg, Franziska Malfait, Johannes Zschocke
AIM: Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders, characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Periodontal EDS (pEDS) is a specific EDS subtype caused by heterozygous mutations in complement 1 subunit genes C1R and C1S, with early severe periodontitis as predominant clinical feature. We aimed to systematically assess the spectrum of periodontal abnormalities in all EDS subtypes. MATERIALS AND METHODS: An electronic and manual search was conducted in three databases (Medline, LIVIVO, CENTRAL)...
August 23, 2017: Journal of Clinical Periodontology
https://www.readbyqxmd.com/read/28781834/ehlers-danlos-hypermobility-type-in-an-adult-with-chronic-pain-and-fatigue-a-case-study
#14
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/28667723/kyphoscolitic-type-of-ehlers-danlos-syndrome-with-prenatal-stroke
#15
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
#16
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
#17
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/28559755/multimodal-chiropractic-care-for-pain-and-disability-in-a-patient-diagnosed-with-ehlers-danlos-syndrome-hypermobility-type-a-case-report
#18
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/28543732/joint-hypermobility-is-also-associated-with-anxiety-disorders-in-the-elderly-population
#19
Andrea Bulbena-Cabré, Conxita Rojo, Guillem Pailhez, Emma Buron Maso, Luis Miguel Martín-Lopez, Antonio Bulbena
BACKGROUND: Anxiety disorders (AD) are very prevalent in the elderly, tend to compromise quality of life, and generate substantial costs. Considering that the prevention and early detection of anxiety may be relevant to increase health gains in older adults, it would be of great interest to identify whether the joint hypermobility syndrome (JHS) is also related to anxiety disorders in this age range. METHODS: Cross-sectional data was collected in a sample of 108 subjects in a rural town in Spain...
May 23, 2017: International Journal of Geriatric Psychiatry
https://www.readbyqxmd.com/read/28485813/spectrum-of-mucocutaneous-ocular-and-facial-features-and-delineation-of-novel-presentations-in-62-classical-ehlers-danlos-syndrome-patients
#20
Marina Colombi, Chiara Dordoni, Marina Venturini, Claudia Ciaccio, Silvia Morlino, Nicola Chiarelli, Arianna Zanca, Piergiacomo Calzavara-Pinton, Nicoletta Zoppi, Marco Castori, Marco Ritelli
Classical Ehlers-Danlos syndrome (cEDS) is characterized by marked cutaneous involvement that is defined by many criteria of the Villefranche nosology and the 2017 revision. However, the diagnostic flow-chart that prompts molecular testing is still based on experts' opinion rather than systematic published data. Here we report on 62 molecularly characterized cEDS patients with focus on skin, mucosae, face, and joint hypermobility. The major and minor Villefranche criteria, additional 11 mucocutaneous signs and 15 facial dysmorphic traits were ascertained and feature rates compared by sex and age...
May 9, 2017: Clinical Genetics
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