scholarly journals Prolonged standing behaviour in people with joint hypermobility syndrome

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Alexander Vernon Bates ◽  
Alison H. McGregor ◽  
Caroline M. Alexander
Keyword(s):  
Connective Tissue ◽  
Postural Sway ◽  
Chronic Widespread Pain ◽  
Joint Hypermobility ◽  
Quiet Standing ◽  
Widespread Pain ◽  
Hypermobility Syndrome ◽  
Joint Hypermobility Syndrome ◽  
Prolonged Standing ◽  
Heritable Disorder

Abstract Background Joint Hypermobility Syndrome (JHS) is a rare Heritable Disorder of Connective tissue characterised by generalised joint laxity and chronic widespread pain. Joint Hypermobility Syndrome has a large impact on patients’ day to day activities, and many complain of symptoms when standing for prolonged periods. This study investigates whether people with JHS exhibit the same behaviours to deal with the effects of prolonged standing as people with equal hypermobility and no pain, and people with normal flexibility and no pain. Methods Twenty three people with JHS, 22 people with Generalised Joint Hypermobility (GJH), and 22 people with normal flexibility (NF) were asked to stand for a maximum of 15 min across two force-plates. Fidgets were counted and quantified using a cumulative sum algorithm and sway parameters of the quiet standing periods between fidgets were calculated. Results Average standing time for participants with JHS was 7.35 min and none stood for the full 15 min. All participants with GJH and NF completed 15 min of standing. There were no differences in fidgeting behaviour between any groups. There was a difference in anteroposterior sway (p = .029) during the quiet standing periods. Conclusion There is no evidence to suggest people with JHS exhibit different fidgeting behaviour. Increased anteroposterior-sway may suggest a muscle weakness and strengthening muscles around the ankle may reduce postural sway and potentially improve the ability to stand for prolonged periods.

scholarly journals Role of heritable connective tissue diseases phenotypes in assessing the risk for internal diseases

2014 ◽  
Vol 95 (4) ◽  
pp. 501-505
Author(s):  
A V Tyurin ◽  
R A Davletshin ◽  
R M Muratova
Keyword(s):  
Mitral Valve ◽  
Connective Tissue ◽  
Mitral Valve Prolapse ◽  
Musculoskeletal Diseases ◽  
Connective Tissue Diseases ◽  
Joint Hypermobility ◽  
Hypermobility Syndrome ◽  
Joint Hypermobility Syndrome ◽  
Systemic Manifestations

Aim. To identify the prevalence of main phenotypes of polygenic heritable connective tissue diseases in patients with internal diseases and to assess the prevalence of different internal diseases in such patients. Methods. The study involved 600 patients (254 males, 346 females) aged 18 to 64 years. Average age of males was 52±3.8 years, females - 47±2.2 years. Patients were examined to reveal the signs of different phenotypes of heritable connective tissue diseases in patients with internal diseases, as well as the severity of connective tissue diseases, and possibilities for it screening using the wrist and thumb hypermobility tests. Results. Signs of heritable connective tissue diseases were revealed in 147 (24.5%) patients with internal diseases. In females, those signs were observed in 104 (30.0%) cases, of which 44 (42.3%) were graded as mild, 35 (33.7%) - moderate, 25 (24.0%) - severe. In males, signs of heritable connective tissue diseases were revealed in 43 cases (16.9%), including mild - 17 (39.5%), moderate - 14 (32.5%) and severe - 12 (28.0%). Ehlers-like phenotype was the most common (52.0%), Marfan-like phenotype was observed in 14.0% of cases, primary mitral valve prolapse was diagnosed in 7.0% of patients, unclassifiable phenotype was observed in 11.0% of cases. Joint hypermobility syndrome was revealed in 31.0% of patients, presenting both as specific phenotypes (Marfan-like, Ehlers-like) and as a self-phenotype (31.9% of all the patients with heritable connective tissue diseases phenotype). Benign joint hypermobility was observed in 6.1% of cases. Symptoms of heritable connective tissue diseases were more frequent in patients with gastrointestinal and musculoskeletal diseases. Conclusion. The most common phenotype of heritable connective tissue diseases is Ehlers-like with skin, bone and systemic manifestations. Presence of heritable connective tissue diseases was most commonly associated with gastrointestinal and musculoskeletal diseases.

Connective tissue disorders in patients with spontaneous intracranial hypotension

Cephalalgia ◽  
2011 ◽  
Vol 31 (6) ◽  
pp. 691-695 ◽  
Author(s):  
Fang-Chun Liu ◽  
Jong-Ling Fuh ◽  
Yen-Feng Wang ◽  
Shuu-Jiun Wang
Keyword(s):  
Connective Tissue ◽  
Marfan Syndrome ◽  
Intracranial Hypotension ◽  
Spontaneous Intracranial Hypotension ◽  
Joint Hypermobility ◽  
Csf Leak ◽  
Connective Tissue Disorders ◽  
Hypermobility Syndrome ◽  
Joint Hypermobility Syndrome ◽  
Benign Joint Hypermobility Syndrome

Objective: Spontaneous intracranial hypotension (SIH) is caused by spinal cerebrospinal fluid (CSF) leakage. An underlying connective tissue disorder has been hypothesized to cause dural weakness and predisposition to CSF leak. We conducted a case-controlled study to investigate the role of connective tissue disorders in SIH patients. Methods: We recruited 55 consecutive SIH patients (38 F, 17 M; mean age, 40.8 ± 9.8 years) and 55 age- and sex-matched control individuals (mean age, 38.0 ± 8.9 years) for this study. The connective tissue disorders were evaluated by: (i) Beighton hypermobility scores and revised diagnostic criteria for benign joint hypermobility syndrome; (ii) skin and skeletal manifestations of Ehlers–Danlos syndrome (EDS); and (iii) skeletal features of Marfan syndrome. Results: The frequencies of joint hypermobility according to Beighton scores >4/9 (SIH 23.6% vs controls 16.4%, P = 0.48) and revised benign joint hypermobility syndrome criteria (SIH 23.6% vs controls 34.5%, P = 0.29) did not differ between SIH patients and controls. Sixteen patients and 16 controls had one or more skin features of EDS ( P = 1.0). Nine SIH patients (16.4%) demonstrated the skeletal features of Marfan syndrome; this frequency did not differ from that of the control group (9.1%; P = 0.262). Only dolichostenomelia (disproportionately long limbs) was more prominent in SIH patients than in controls (34.5% vs 9.1%; P = 0.002). Conclusion: Compared with Western studies, the frequencies of connective tissue disorders were higher in our SIH patients. However, these frequencies did not differ between SIH patients and control individuals, except for dolichostenomelia.

scholarly journals Adaptation of balance reactions following forward perturbations in people with joint hypermobility syndrome

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Alexander Vernon Bates ◽  
Alison McGregor ◽  
Caroline M. Alexander
Keyword(s):  
Balance Control ◽  
Vastus Lateralis ◽  
Rectus Femoris ◽  
Gluteus Medius ◽  
Joint Hypermobility ◽  
Lower Limbs ◽  
Hypermobility Syndrome ◽  
Joint Hypermobility Syndrome ◽  
Time To Peak ◽  
Heritable Disorder

Abstract Background Joint Hypermobility Syndrome (JHS) is a Heritable Disorder of Connective tissue characterised by joint laxity and chronic widespread arthralgia. People with JHS exhibit a range of other symptoms including balance problems. To explore balance further, the objective of this study is to compare responses to forward perturbations between three groups; people who are hypermobile with (JHS) and without symptoms and people with normal flexibility. Methods Twenty-one participants with JHS, 23 participants with Generalised Joint Hypermobility (GJH) and 22 participants who have normal flexibility (NF) stood on a platform that performed 6 sequential, sudden forward perturbations (the platform moved to the anterior to the participant). Electromyographic outcomes (EMG) and kinematics for the lower limbs were recorded using a Vicon motion capture system. Within and between group comparisons were made using Kruskal Wallis tests. Results There were no significant differences between groups in muscle onset latency. At the 1st perturbation the group with JHS had significantly longer time-to-peak amplitude than the NF group in tibialis anterior, vastus medialis, rectus femoris, vastus lateralis, and than the GJH group in the gluteus medius. The JHS group showed significantly higher cumulative joint angle (CA) than the NF group in the hip and knee at the 1st and 2nd and 6th perturbation, and in the ankle at the 2nd perturbation. Participants with JHS had significantly higher CA than the GJH group at the in the hip and knee in the 1st and 2nd perturbation. There were no significant differences in TTR. Conclusions The JHS group were able to normalise the timing of their muscular response in relation to control groups. They were less able to normalise joint CA, which may be indicative of impaired balance control and strength, resulting in reduced stability.

Hypermobility syndromes

2013 ◽  
pp. 1362-1372
Author(s):  
Alan J. Hakim ◽  
Rodney Grahame
Keyword(s):  
Connective Tissue ◽  
Orthostatic Intolerance ◽  
Chronic Widespread Pain ◽  
Joint Hypermobility ◽  
Rectal Intussusception ◽  
Joint Hypermobility Syndrome ◽  
Gastrointestinal Dysmotility ◽  
Slow Transit ◽  
Tissue Matrix ◽  
Transit Constipation

Hypermobility-related syndromes constitute a family of heritable disorders of connective tissue (HDCT) that derive from abnormalities affecting genes that encode for the connective tissue matrix proteins such as collagen, fibrillin, and tenascin. They range from such commonplace though poorly recognized conditions such as the joint hypermobility syndrome (JHS) to the better-known, if rarer, eponymous syndromes such as the Marfan syndrome (MFS) and the different types of the Ehlers-Danlos syndrome (EDS). The more common presentations are with skin pathology (bruising, scaring), joint or spinal and/or muscle pain and instability with vulnerability to injury and chronic widespread pain, cardiac valve pathologies, and in MFS and vascular EDS, arterial dilatation with the risk of dissection and rupture. JHS (widely considered synonymous with the EDS hypermobility type) is further complicated by cardiovascular autonomic dysfunction such as orthostatic intolerance, palpitations, and syncope, and the recently described and commonly encountered pan-gastrointestinal dysmotility. The latter can manifest as gastro-oesophageal reflux, gastroparesis, slow-transit constipation, or rectal evacuatory dysfunction with rectal intussusception. In addition, HDCT are associated with bladder and uterine problems as a consequence of pelvic floor weakness. Such multisystemic conditions need to be managed by a multidisciplinary team able to draw on medical, surgical, physical, and psychological interventions by appropriately experienced specialists and therapists. This chapter introduces the reader to the epidemiology, genetics, classification, and clinical presentation of JHS, EDS, and MFS. It also describes the key investigations required to support a diagnosis and assess complications of an HDCT, as well as the multidisciplinary approach to management.

Hypermobility syndromes

2013 ◽  
Author(s):  
Alan J. Hakim ◽  
Rodney Grahame
Keyword(s):  
Connective Tissue ◽  
Orthostatic Intolerance ◽  
Chronic Widespread Pain ◽  
Joint Hypermobility ◽  
Rectal Intussusception ◽  
Slow Transit Constipation ◽  
Joint Hypermobility Syndrome ◽  
Ehlers Danlos Syndrome ◽  
Connective Tissue Matrix ◽  
Tissue Matrix

Hypermobility-related syndromes constitute a family of heritable disorders of connective tissue (HDCT) that derive from abnormalities affecting genes that encode for the connective tissue matrix proteins such as collagen, fibrillin, and tenascin. They range from such commonplace though poorly recognized conditions such as the joint hypermobility syndrome (JHS) to the better-known, if more rare, eponymous syndromes such as Marfan's syndrome (MFS) and the different types of the Ehlers-Danlos syndrome (EDS). The more common presentations are with skin pathology (bruising, scaring), joint or spinal and/or muscle pain and instability with vulnerability to injury and chronic widespread pain, cardiac valve pathologies, and in MFS and vascular EDS, arterial dilatation with the risk of dissection and rupture. JHS (widely considered synonymous with the EDS hypermobility type) is further complicated by cardiovascular autonomic dysfunction such as orthostatic intolerance, palpitations, and syncope, and the recently described and commonly encountered pangastrointestinal dysmotility. The latter can manifest as gastro-oesophageal reflux, gastroparesis, slow-transit constipation, or rectal evacuatory dysfunction with rectal intussusception. In addition, HDCT are associated with bladder and uterine problems as a consequence of pelvic floor weakness. Such multisystemic conditions need to be managed by a multidisciplinary team able to draw on medical, surgical, physical, and psychological interventions by appropriately experienced specialists and therapists. This chapter introduces the reader to the epidemiology, genetics, classification, and clinical presentation of JHS, EDS, and MFS. It also describes the key investigations required to support a diagnosis and assess complications of an HDCT, as well as the multidisciplinary approach to management.

Sign in / Sign up

Export Citation Format

Share Document