Never disregard professional medical advice or delay in seeking it because of something you have read on this website. Vote count: 3. No votes so far! Be the first to rate this post. What is hEDS? How do doctors diagnose hEDS?
Patients must meet three specific criteria for the classification of hEDS, including: a positive test for generalized JH GJH features of inherited connective tissue disorders not meet criteria for any other disorders with similar symptoms To meet criteria 1 of a positive test for GJH, patients must have a Beighton score of 6 or higher if they are children who have not yet reached puberty, 5 or higher if they are adults, or 4 or higher if they are older than age What is HSD?
G-HSD involves a positive Beighton scale score indicating widespread joint hypermobility. Patients who only have hypermobile joints in the arms and legs are classified as having P-HSD. What is asymptomatic JH? Last updated: Oct.
Author Details. Brian Murphy, Ph. Brian holds a Ph. He has co-authored numerous scientific articles based on his previous research in the field of brain-computer interfaces and functional electrical stimulation. He is also passionate about making scientific advances easily accessible to the public.
Fact Checked By. Özge Özkaya, PhD. Özge has a MSc. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication.
She worked as the Research Communication Officer at a London based charity for almost two years. Print This Article. How useful was this post? Click on a star to rate it! As you found this post useful Follow us on social media! Otherwise, there is potential to lose the benefit gained from physical therapy. Occupational therapy is also an important treatment for patients with JHS. Temporary splinting of hyperextensible small joints of the hand during certain activities may be required.
Special devices, such as kitchen and writing utensils with wide grips, can help patients perform important daily activities. Orthotics should be worn by patients with JHS who have pes planus to improve posture and decrease fatigue of lower extremity muscles. Psychotherapy may be helpful in dealing with issues related to chronic pain, such as depression, anxiety, and poor sleep. Biofeedback and relaxation techniques may be of use.
Hypermobile EDS and hypermobility spectrum disorders – The Ehlers-Danlos Support UK
Musculoskeletal: Scoliosis, pectus carinatum, pectus excavatum, arachnodactyly, hindfoot deformity, pes planus, protrusio acetabuli, spondylolisthesis. Cardiovascular: Aortic root dilatation, aortic aneurysm, aortic dissection, aortic insufficiency, mitral valve prolapse, endocarditis, left ventricular dysfunction.
Ophthalmologic: Ectopia lentis, retinal detachment, cataracts, glaucoma, myopia, amblyopia, strabismus. Just as there is genotypic and phenotypic heterogeneity in patients with EDS, so too is there variability in the clinical course of disease.
Neurologic: Autonomic dysfunction e. Musculoskeletal: Kinesiophobia the avoidance of painful movements can lead to muscle deconditioning, loss of function and mobility, and assumption of abnormal postures. Patients may develop chronic, widespread pain.
Neurologic: Some patients may have generalized hyperalgesia. Some patients will develop autonomic dysfunction as manifested by bowel or bladder dysfunction, syncope, palpitations, orthostasis, and POTS. There appears to be an association between JHS and carpal tunnel syndrome, although a causative relationship in either direction has not been elucidated at this time. Dermatologic: Striae atrophicae usually form in adolescence, whereas striae gravidarum tend not to develop during pregnancy.
Papyraceous scars may form. Gastrointestinal: Hiatal hernias can cause gastroesophageal reflux disease. Abdominal wall hernias may also occur. Gynecologic: polycycstic ovaries syndrome, cysts, leiomyomas, endometrial hypertrophy, endometriosis.
Parous women may develop uterine prolapse, rectal prolapse, rectocele, or cystocele. Clinical practice guidelines for the diagnosis and management of patients with thoracic aortic disease help inform decision making. There are no clinical practice guidelines at the time of this writing to inform decision making in JHS. All rights reserved.
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Does this patient have a hypermobility syndrome such as Marfan syndrome, Ehlers-Danlos syndrome, or joint hypermobility syndrome? Table I. Table II. Table III. Joint hypermobility. Wide, atrophic, papyraceous scarring. III Hypermobility variable heterogeneous Joint hypermobility. Easy bruisability. Spontaneous rupture of large or medium arteries, bowel, and uterus. Some patients have characteristic facies with decreased adipose tissue in the face, thin nose and lips, and large eyes.
Ocular fragility with potential for rupture. Neonatal hypotonia. VII Arthrochalasia Congenital hip dislocation. Recurrent articular subluxations. Redundant skin, blue sclera. Table IV. Passive opposition of the right thumb to the volar aspect of the right forearm. Passive opposition of the left thumb to the volar aspect of the left forearm. Placement of the hands flat on th.
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