Some patients with EDS can demonstrate amazing, almost unnatural, contortions, often arousing the curiosity of onlookers.
Niccolo Paganini (1782-1840) the famous Italian violinist, who was capable of miraculous feats in his playing owing to his hypermobile and loose joints, had phenotypic traits of EDS.
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. We are planning to collected blood and saliva for DNA extraction to use for genetic testing of children and adults with EDS and their relatives.
Listing a study does not mean it has been evaluated by the U. Medical records from other institutions and clinical notes for visits in Dr.
No clinical intervention/randomizations will be performed. After validation by Sanger sequencing for these variations, we plan to prepare a genetic panel for EDS.
After all validation testing, we plan to evaluate the saliva DNA in a similar manner and compare the results with those obtained from the DNA from the blood sample.When GJH is accompanied by pain in ≥4 joints over a period ≥3 months in the absence of other conditions that cause chronic pain, the hypermobility syndrome (HMS) may be diagnosed.In addition, GJH is also a clinical sign that is frequently present in hereditary diseases of the connective tissue, such as the Marfan syndrome, osteogenesis imperfecta, and the Ehlers–Danlos syndrome.Depending on the type, EDS can be diagnosed through laboratory studies or clinical examination.Once the syndrome has been diagnosed, preventative measures should be taken. Tschernogobow, a Russian dermatologist, presented 2 case studies of patients to the Moscow Venereology and Dermatology Society who had marked loose fragile skin, and hypermobile large joints.To gain further insight into the phenotype of HMS/EDS-HT and its mechanisms, clearer descriptions of these populations should be made available.Future research and clinical care should revise and create consensus on the diagnostic criteria for HMS/EDS-HT (Solution 1), account for clinical heterogeneity by the classification of subtypes within the HMS/EDS-HT spectrum (Solution 2), and create a clinical core set (Solution 3).Holick's clinic will be reviewed to obtain the following information: previous diagnosis at other institutions, age, clinical signs and symptoms of EDS, Joints Hypermobility Syndrome (JHS), and other metabolic or genetic disorders and laboratory results, radiology reports and images, and genetic testing that supports EDS diagnoses. Accepted for publication 11 June 2015 Published 20 August 2015 Volume 2015:8 Pages 591—601 DOI https://doi.org/10.2147/JPR.Physical therapy guided by a therapist who is experienced in working with patients with connective-tissue abnormalities and joint dysfunction can be very helpful in the management of long-term health.Instruct patients with EDS to avoid excessive or repetitive heavy lifting and other movements that produce undue strain or stress on their already hypermobile joints (eg, finger hyperextension that occurs with pushing off of a wall with the palms of the hands).