| N Engl J Med 2018; 379:2452-2461 An 18-year-old man presented with diplopia and proptosis of the left eye. [nejm.org]

Delayed wound healing is only present in a subset of patients. EDSCLL inheritance is autosomal recessive. [uniprot.org]

These patients lack atrophic scars—a major diagnostic criteria for classic Ehlers-Danlos syndrome (EDS); delayed wound healing, a feature of classic EDS, is only present in some patients. [medical-dictionary.thefreedictionary.com]

Learn more from her very informative video presentation. Be sure to watch all 6 presentations by … [pinterest.at]

Because of the multi-organ involvement and varied presentation of this disease, no uniform or routine obstetric and anesthetic recommendations can be made for the perinatal care of these patients. We present a ... [citeulike.org]

• Easy Bruising

  Easy Bruising Easy bruising is a common finding and manifests as spontaneous ecchymoses, frequently recurring in the same areas and causing a characteristic brownish discoloration of the skin, especially in exposed areas such as shins and knees. [0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk]

  […] pain, easy bruising, easy bleeding, normal scars Dominant TNXB ( (Not available through CDL) Vascular Type (EDS type IV) Thin, translucent skin with visible veins; marked bruising; skin and joints have normal extensibility; arterial, bowel and uterine [uwcpdx.org]

  […] a Easy bruising; thin skin; androgenic alopecia LV enlargement Patient 11 F/31 SW 2 Hip laxity; chronic arthralgia a ; shoulder subluxation Easy bruising, wide scars Diagnosed with fibromyalgia at age 24 Patient 12 M/31 SW 0 Hypermobile fingers; multiple [academic.oup.com]

  bruising without atrophic scarring. [orpha.net]

  These symptoms include easy bruising, abnormally stretchy skin (hyperextensible), very loose joints with an abnormally large range of movement (hypermobility), and joints that dislocate/ subluxate easily. [diseaseinfosearch.org]

• Arthralgia

  […] enlargement Sister of patient 9 F/15 SW 1 Hypermobile shoulders Normal Patient 10 F/22 SW 2 Hypermobile fingers; chronic arthralgia a Easy bruising; thin skin; androgenic alopecia LV enlargement Patient 11 F/31 SW 2 Hip laxity; chronic arthralgia a ; [academic.oup.com]

  Its major criteria are a Beighton score of 4/9 or greater and arthralgia, but the diagnosis can also be based on the presence of minor criteria, including abnormal skin and joint (sub)luxations. [ard.bmj.com]

  […] evaluated for fever, arthralgias, and testicular pain. [nejm.org]

  Arthralgia for > 3 months in ≥ 4 joints. Minor criteria Beighton score of 1, 2, or 3 out of 9 (or 0, 1, 2, or 3 if ≥ 50 years of age). Arthralgia in 1 to 3 joints or back pain, spondylosis, or spondylolysis/spondylolisthesis. [rheumatologyadvisor.com]

  The mother of P2 (heterozygous for exon 35 120bp deletion) had hypermobile large and small joints and chronic arthralgia. [ncbi.nlm.nih.gov]

• Proximal Muscle Weakness

  muscle tone 0001252 Myalgia Muscle ache Muscle pain [ more ] 0003326 Proximal muscle weakness Weakness in muscles of upper arms and upper legs 0003701 Sensory neuropathy Damage to nerves that sense feeling 0000763 Skeletal muscle atrophy Muscle degeneration [rarediseases.info.nih.gov]

  Fixed muscle weakness occurs in approximately 25% of affected individuals, is more likely to involve proximal muscles, and is more common in individuals of advanced age. [bredagenetics.com]

• Motor Disturbances

  Neurologic Features Primary muscular hypotonia may occur and may cause delayed motor development, problems with ambulation, and mild motor disturbance in individuals with cEDS. Fatigue and muscle cramps are relatively frequent. [0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk]

• Nephrolithiasis

  […] intermediate form|with macular haloXDH|Xanthinuria|type IATXN7|Spinocerebellar ataxia 7FSCN2|Retinitis pigmentosa 30TJP2|Hypercholanemia|familialITGA2B|Bak platelet-specific antigenITGA2B|Glanzmann thrombastheniaVPS13B|Cohen syndromeZNF365|Uric acid nephrolithiasis [docslide.us]

More Symptoms of Ehlers-Danlos syndrome due to tenascin-X deficiency » Diagnosis See also related information on diagnosis: Diagnosis of Ehlers-Danlos Syndrome Treatments See also the following treatment articles: Treatments for Ehlers-Danlos Syndrome [familydiagnosis.com]

Dempster has published over 200 research papers on the pathophysiology and treatment of bone disese. Dr. [books.google.com]

The prospect of an actual treatment is wonderful news for these patients." [investors.dna.com]

Retinal blood flow before and after treatment is shown in videos. [nejm.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Prognosis - Ehlers-Danlos syndrome caused by tenascin-X deficiency Not supplied. Treatment - Ehlers-Danlos syndrome caused by tenascin-X deficiency Not supplied. Resources - Ehlers-Danlos syndrome caused by tenascin-X deficiency Not supplied. [checkorphan.org]

What is the Prognosis of Ehlers-Danlos Syndrome, Hypermobility Type? (Outcomes/Resolutions) The prognosis of Ehlers-Danlos Syndrome, Hypermobility Type is determined by the severity of the disorder and overall health of the affected individual. [dovemed.com]

Prognosis The outlook for individuals with EDS depends on the type of EDS with which they have been diagnosed. Symptoms vary in severity, even within one sub-type, and the frequency of complications changes on an individual basis. [dysautonomiaconnection.org]

Valve-sparing operations appear to associate with lower rates of valve-related complications and better long-term prognosis. [rheumatologyadvisor.com]

Etiologies of Chronic Low Back Pain While herniated disc, spinal stenosis, spondylosis, and facet arthropathy are often considered along with myofascial origins, myofascial trigger points (TrPs) have been shown as coexisting with the other commonly accepted [edsinfo.wordpress.com]

Except for a small subset with Haploinsufficiency of Tenascin X Deficiency, the etiology is currently unknown. To this end, diagnosis is strictly clinical. [mthfrheds.com]

A deficiency of tenascin X is etiological in at least one form of EDS. Tenascin X is a glycoprotein which possesses anti-adhesive effects. [metabolichealing.com]

(Etiology) It is believed that Ehlers-Danlos Syndrome, Hypermobility Type is caused by genetic mutations. In most cases, the exact cause for the disorder is not known. In some cases, however, mutation(s) in the TNXB gene lead to this disorder. [dovemed.com]

Etiology of alopecia areata (AA) suggests a predominantly autoimmune reaction. Correlation between AA and psychologic disorders is reciprocal. [allmedx.com]

Her primary research interest is the epidemiology of osteoporosis, osteoporosis treatment and the consequences of osteoporosis in both men and women. [books.google.com]

It is updated with the most recent basic clinical research, epidemiological findings, medical, surgical and endovascular therapies of the aorta. [link.springer.com]

Relevant External Links for TNXB Genetic Association Database (GAD) TNXB Human Genome Epidemiology (HuGE) Navigator TNXB Atlas of Genetics and Cytogenetics in Oncology and Haematology: TNXB No data available for Genatlas for TNXB Gene Sequences promoting [genecards.org]

"Blood Pressure" [SH] (epidemiology AND humans) [SH] SI Secondary Source ID The SI field identifies secondary source databanks and accession numbers, e.g., GenBank, GEO, PubChem, ClinicalTrials.gov, ISRCTN. [biomedsearch.com]

|2009|Weinstock MA,Moses AM,|metabolism,epidemiology,prevention & control,administration & dosage,biosynthesis,epidemiology,prevention & control,administration & dosage,biosynthesis, Vitamin D levels in patients with albinism compared with those in normally [allmedx.com]

Dempster has published over 200 research papers on the pathophysiology and treatment of bone disese. Dr. [books.google.com]

Online presence [ edit | edit source ] Website Facebook Email: [email protected] Learn more [ edit | edit source ] RCCX Theory - Pathophysiology Diagrams References [ edit | edit source ] [me-pedia.org]

Credit must be given to Sharon Meglathery, MD for elucidating the pathophysiology and various related theories of EDS. [metabolichealing.com]

The role of sex hormones in the pathophysiology of these disorders has remained unclear. [rccxandillness.com]

5] Australia has just hosted its' first EDS conference in July 2014 which was open to medical professionals, allied health professionals but perhaps more importantly, those suffering from EDS and their families. http://www.edsconference.com.au/2014/ Pathophysiology [en.wikibooks.org]

Prevention of Secondary Complications For recommendations on prevention of secondary manifestations of joint laxity and dislocations, see Hypermobile EDS, Management: Prevention of Secondary Complications. [0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk]

Study Finds Majority Of Accidental Heroin Overdoses Could Be Prevented With Less Heroin – The Onion – America’s Finest News Source This is actually a good point to make: Why not go after the real problem drug, heroin, which is never used for pain, but [edsinfo.wordpress.com]

Ehlers-Danlos Syndrome, Hypermobility Type is a genetic disorder, and currently, there are no methods or guidelines available to prevent its occurrence. [dovemed.com]

Dominant mutations in COL1A1 and COL1A2 can prevent cleavage and cause arthrochalasia, while recessive loss of the N -procollagen peptidase cause dermatosparaxis. (V) Collagen molecules self-assemble into heterotypic fibrils. [jci.org]