Edit concept Question Editor Create issue ticket

Ehlers-Danlos Syndrome due to Tenascin-X Deficiency

EDS due to TN-X Deficiency


Presentation

  • 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]
  • […] type Ehlers-Danlos syndrome, classic-like type Prevalence: Inheritance: Autosomal recessive Age of onset: Neonatal , Childhood , Infancy ICD-10: Q79.6 OMIM: 606408 UMLS: C1848029 MeSH: - GARD: 8507 MedDRA: - The documents contained in this web site are presented[orpha.net]
  • Delayed wound healing is only present in a subset of patients. EDSCLL inheritance is autosomal recessive.[uniprot.org]
  • Learn more from her very informative video presentation. Be sure to watch all 6 presentations by …[pinterest.at]
  • N Engl J Med 2018; 379:2452-2461 An 18-year-old man presented with diplopia and proptosis of the left eye.[nejm.org]
Short Finger
  • finger Bicuspid aortic valve Abnormality of the metacarpal bones Meningitis Aortic valve stenosis Small nail Pulmonary arterial hypertension Pachygyria Hypoplastic left heart Coarctation of aorta Tetralogy of Fallot Esotropia Premature birth Short distal[mendelian.co]
Cerebral Palsy
  • palsy spastic symmetric autosomal recessiveNOS1AP Qt interval modifier ofHAX1 Neutropenia severe congenital autosomal recessive 3BTNL2 Sarcoidosis susceptibility toKCNV2 Retinal cone dystrophy 3B- Inflammatory response modulation ofSIL1 Marinesco-Sjogren[docslide.us]
Easy Bruising
  • bruising without atrophic scarring.[orpha.net]
  • Symptoms - Ehlers-Danlos syndrome caused by tenascin-X deficiency * Hypermobile joints * Joint dislocation * Muscle pain * Skeletal pain * Easy bruising * Hyperextensible skin Causes - Ehlers-Danlos syndrome caused by tenascin-X deficiency Not supplied[checkorphan.org]
  • 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]
  • Possible diagnosis of EDS type VIII: Clinical features of EDS VIII such as hyperextensible joints, atrophic scarring, and easy bruising can often overlap with other forms of EDS.[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]
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]
  • The mother of P2 (heterozygous for exon 35 120bp deletion) had hypermobile large and small joints and chronic arthralgia.[ncbi.nlm.nih.gov]
  • Case Records of the Massachusetts General Hospital Jun 28, 2018 Case 20-2018: A 64-Year-Old Man with Fever, Arthralgias, and Testicular Pain Sacks C.A., Kilcoyne A., Wallace Z.S., and Glomski K.[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]
Proximal Muscle Weakness
  • 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 Muscle wasting [ more ] 0003202 Thin skin 0000963 5%-29% of people have[rarediseases.info.nih.gov]
  • Mitochondrial diseases An unusual group of adult-onset mitochondrial disease patients present with sporadic isolated myopathies, with exercise intolerance variably accompanied by proximal muscle weakness and myoglobinuria.[bredagenetics.com]
Bone Pain
  • Detailed clinical description Muscle rigidity, diffuse muscle-bone pain (musculoskeletal algias), paresthesia, sleep disturbances and fatigability are the main clinical features of fibromyalgia.[bredagenetics.com]
Hand Deformity
  • Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.[orpha.net]

Treatment

  • 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]
  • Stay at the forefront of your field with updated treatment methods throughout, as well as an increased focus on patients with skin of color.[books.google.com]
  • 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

  • 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]

Etiology

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

Epidemiology

  • 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]
  • & dosage,biosynthesis,epidemiology,prevention & control,administration & dosage,biosynthesis, Vitamin D levels in patients with albinism compared with those in normally pigmented Bl...[allmedx.com]
  • Epidemiologic studies have shown a prevalence of joint hypermobility of 0.6–31.5%, depending on the criteria used (e.g., race, age, and sex) (1–3). ...[citeulike.org]
Sex distribution
Age distribution

Pathophysiology

  • Dempster has published over 200 research papers on the pathophysiology and treatment of bone disese. Dr.[books.google.com]
  • Within eight hours of release an endocrinologist, Website Facebook Email: info@rccxandillness.com Learn more RCCX Theory - Pathophysiology Diagrams References[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]
  • Pathophysiology [ edit ] Clinically it can be difficult to differentiate between EDS and BJHS and they can often be considered to be the same.[en.wikibooks.org]

Prevention

  • Prevention - Ehlers-Danlos syndrome caused by tenascin-X deficiency Not supplied.[checkorphan.org]
  • Ehlers-Danlos syndrome Department of Pedodontics and Preventive Dentistry, Dr.[jdrr.org]
  • 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]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!