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Musculocontractural Ehlers-Danlos Syndrome Type 2

ATCS


Presentation

  • Patients with ATCS present similar craniofacial and muscoloskeletal features as the EDS VIB patients reported here, but lack the severe skin manifestations.[orbi.uliege.be]
  • Patients with ATCS present similar craniofacial and musculoskeletal features as the EDS VIB patients reported here, but lack the severe skin manifestations.[amrita.edu]
  • Acronym EDSMC2 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • Patients present with muscle hypoplasia and weakness, and there is evidence for an underlying myopathy. The condition is caused by a deficiency of dermatan sulfate moeities in connective tissues.[oxfordmedicine.com]
Turkish
  • A genome-wide SNP scan and sequence analyses identified a homozygous frameshift mutation (NM_130468.2:c.145delG, NP_569735.1:p.val49*) in CHST14, encoding dermatan-4- sulfotransferase 1 (D4ST-1), in two Turkish siblings.[orbi.uliege.be]
  • A genome-wide SNP scan and sequence analyses identified a homozygous frameshift mutation (NM_130468.2:c.145delG, NP_569735.1:p.Val49z.ast;) in CHST14, encoding dermatan-4-sulfotransferase 1 (D4ST-1), in two Turkish siblings.[amrita.edu]
  • They reported another patient with ATCS, a boy aged 3 months, from a consanguineous Turkish family including three affected siblings who died of unknown etiology between the ages of 1 and 4 months [ 9 ].[intechopen.com]
  • Dündar M, Demiryilmaz F, Demiryilmaz I, Kumandas S, Erkilic K, Kendirci M, Tuncel M, Ozyazgan I, Tolmie JL (1997) An autosomal recessive adducted thumb-club foot syndrome observed in Turkish cousins.[link.springer.com]
Blue Sclera
  • sclerae Adducted thumbs Talipes equinovarus • • • Back to: « Ehlers-Danlos syndrome, musculocontractural type 2 Back to: « Ehlers-Danlos syndrome Disease Articles Ehlers-Danlos Syndrome : Ehlers-Danlos syndrome .[familydiagnosis.com]
  • Brittle Cornea Syndrome 1 Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility Dysgenesis Mesodermalis Corneae Et Sclerae Ehlers-Danlos Syndrome, Type VIB Fragilitas Oculi With Joint Hyperextensibility BCS1 EDS6B 229200 Genetic Test[ukgtn.nhs.uk]
  • Symptoms INHERITANCE: Autosomal recessive GROWTH: [Height]; Normal to tall stature; [Other]; Marfanoid habitus HEAD AND NECK: [Eyes]; Keratoconus; Microcornea ; Myopia; Retinal detachment; Ocular rupture; Blue sclerae; Epicanthal folds; Glaucoma; Blindness[findzebra.com]
  • sclerae; late eruption of teeth and hypodontia.[sites.uclouvain.be]
Frontal Bossing
  • Frontal bossing may simply be normal ... ...[familydiagnosis.com]
  • Affiliated tissues include skin , and related phenotypes are frontal bossing and high palate UniProtKB/Swiss-Prot : 75 Ehlers-Danlos syndrome, musculocontractural type 2: A form of Ehlers-Danlos syndrome characterized by progressive multisystem manifestations[malacards.org]
  • Affiliated tissues include skin and bone , and related phenotypes are hypertelorism and frontal bossing UniProtKB/Swiss-Prot : 75 Ehlers-Danlos syndrome, musculocontractural type 2: A form of Ehlers-Danlos syndrome characterized by progressive multisystem[malacards.org]
  • Other LDS craniofacial features are retrognathia, malar flattening, tall and broad forehead, and frontal bossing with a high anterior hair line.[annalscts.com]
High Forehead
  • More on Head abnormality » Frontal bossing : Frontal bossing refers to an abnormally high forehead, or a prominent forehead. Similar symptoms include a prominent brow, high forehead, and other forehead abnormalities.[familydiagnosis.com]

Workup

  • If it were me, I would damn sure want to be certain that all possible non-invasive management was exhausted, and (as Drs Grubb and Shen would advise) a thorough workup is undertaken to determine the underlying pathophysiology of the inappropriate tachycardia[forums.phoenixrising.me]

Treatment

  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • In the area of metabolic disease, he is developing new treatments for maple syrup urine disease and urea cycle disorders. Fernando Scaglia, MD, is a Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine.[books.google.com]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]

Prognosis

  • Management no curative treatment is available treatment is supportive - includes monitoring and additional interventions tailored to the particular manifestations or complications that may occur with each form of EDS Prognosis: varies by subtype vascular[gpnotebook.co.uk]
  • The prognosis for this type is poor, and the patient's life span is shortened. Sudden death can occur after visceral perforation or after the rupture of a large vessel, most commonly an abdominal or splenic vessel.[emedicine.medscape.com]
  • […] and bracing may help strengthen muscles and support joints. 3 While some disorders result in a normal life expectancy, those that affect blood vessels generally result in a shorter life expectancy. 5 edss affect about 1 in 5,000 people globally. 1 The prognosis[stotmo.jeuk.amsterdam]
  • 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.[medical-dictionary.thefreedictionary.com]
  • Its estimated prevalence ranges from 1:50,000 to 1:100,000 ( 12 , 39 ) and represents approximately 5% of all EDS cases ( 44 ). vEDS is characterized by abnormalities of the skin, joints, hollow organs, and blood vessels and has the worst prognosis amongst[annalscts.com]

Etiology

  • They reported another patient with ATCS, a boy aged 3 months, from a consanguineous Turkish family including three affected siblings who died of unknown etiology between the ages of 1 and 4 months [ 9 ].[intechopen.com]
  • Although the precise etiology of the syndrome remains unknown, it is ex- tremely important for the physician to recognize the patient with Sandifer s y n d r o m e .[dokumen.tips]

Epidemiology

  • […] after birth, within a specific cell, are a hallmark of cancer and are called ‘somatic cancer mutations’.1 Mutations that are present in every cell, either because they have been inherited or occur at conception, Author: Ahead, Division of Genetics and Epidemiology[kipdf.com]
  • Deficiency has been epidemiologically associated with cardiovascular disease, clear molecular mechanisms are, however, missing [ 44 ]. Diagnosis of Vitamin D is fairly cheap and oral substitution with cholecalciferol well tolerated.[ojrd.biomedcentral.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders. Pharmaceuticals 2017 , 10 , 34.[mdpi.com]
  • Vascular Ehlers-Danlos syndrome: Pathophysiology, diagnosis, and prevention and treatment of its complications. Cardiology in Review, 20 , 4–7. CrossRef PubMed Google Scholar Brooke, B. S., Arnaoutakis, G., McDonnell, N. B., et al. (2010).[link.springer.com]
  • Vascular Ehlers-Danlos syndrome: pathophysiology, diagnosis, and prevention and treatment of its complications. Cardiol Rev. 2012; 20(1):4-7.[invitae.com]
  • Pathophysiology of D4ST1-deficient EDS 3.1.[intechopen.com]
  • Clinical research on the pathophysiology of inappropriate sinus tachycardia should be pursued vigorously.” Many think the “no ablation” policy applies only if POTS has been officially diagnosed.[forums.phoenixrising.me]

Prevention

  • In additional, there are several steps you can take to prevent injury.[healthline.com]
  • And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • The loss of the decorin DS proteoglycan due to CHST14 mutations may prevent proper collagen bundle formation or maintenance of collagen bundles.[genetics.ouhsc.edu]
  • In turn, this has potential to provide substantial cost-effective health benefits with respect to cancer treatment in people with the disease and cancer prevention in healthy individuals.[kipdf.com]
  • Vascular Ehlers-Danlos syndrome: Pathophysiology, diagnosis, and prevention and treatment of its complications. Cardiology in Review, 20 , 4–7. CrossRef PubMed Google Scholar Brooke, B. S., Arnaoutakis, G., McDonnell, N. B., et al. (2010).[link.springer.com]

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