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Ehlers-Danlos Syndrome Musculocontractural Type 2


Presentation

  • Acronym EDSMC2 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • The problems present in the group of disorders known as Ehlers-Danlos syndrome ( EDS ) include changes in the physical properties of skin, joints, blood vessels, and other 1 ... ...[familydiagnosis.com]
  • Professor Loeys is an active reviewer on 11 international journals, has made 68 book contributions and has 118 Abstracts, posters, platform presentations and invited lectures.[books.google.com]
  • Brachycephaly, a characteristic facial appearance, an asthenic build, hyperextensible and bruisable skin, tapering fingers, instability of large joints, and recurrent formation of large subcutaneous hematomas are always present.[unboundmedicine.com]
Muscle Weakness
  • Motor developmental delay is associated with muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood.[malacards.org]
  • Symptoms related to Ehlers-Danlos syndrome, musculocontractural type 2 include: Connective tissue symptoms Head abnormality Frontal bossing High palate Limb abnormality Abdominal abnormality Cardiovascular system abnormality Muscle abnormality Generalized muscle[familydiagnosis.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, small jaw, hypertrichosis Dominant COL1A1, COL1A2 Arthrochalasia, type VII A/B (Exon 6 COL1A1/2 ) Dermatosparaxis Type (EDS type VIIC) Soft and very thin, fragile skin (tearing of the skin), stretchy skin, easy bruising, joint hypermobility[uwcpdx.org]
Frontal Bossing
  • Frontal bossing may simply be normal ... ...[familydiagnosis.com]
  • 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]
Ataxia
  • PERIODONTAL TYPE, 2 German Syndrome Gordon Syndrome Hecht Syndrome hereditary neuropathy with liability to pressure palsies Hernandez Aguirre-Negrete Syndrome Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence Intellectual Disability with Episodic Ataxia[rgd.mcw.edu]
  • Spinocerebellar ataxia 10, ATXN2 Spinocerebellar ataxia 2, {Amyotrophic lateral sclerosis, susceptibility to, 13}, {Parkinson disease, late onset, susceptibility to}, ATXN3 Machado Joseph disease, ATXN7 Spinocerebellar ataxia 7, ATXN8OS Spinocerebellar[healthdocbox.com]
  • 1, ATXN % 100% Spinocerebellar ataxia 10, ATXN % 80% Spinocerebellar ataxia 2, {Amyotrophic lateral sclerosis, susceptibility to, 13}, ATXN % 100% Machado-Joseph disease, ATXN % 95% Spinocerebellar ataxia 7, AUH % 100% 3-methylglutaconic aciduria, type[docplayer.net]
Akinesia
  • Syndrome, Musculocontractural Type 2 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 German Syndrome Gordon Syndrome Hecht Syndrome hereditary neuropathy with liability to pressure palsies Hernandez Aguirre-Negrete Syndrome Holoprosencephaly with Fetal Akinesia[rgd.mcw.edu]
  • […] complete analysis targeted analysis of a familial mutation PLOD1 - Ehlers-Danlos syndrome type 6 This test is available for the following conditions: Conditions Skin Ehlers-Danlos syndrome This product is also part of the following panels: WES fetal akinesia[order.radboudumc.nl]
Cerebellar Ataxia
  • , 1, Episodic ataxia, type 2, Spinocerebellar ataxia 6, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, CACNA1C % 95% Timothy syndrome, Brugada syndrome 3, CACNA1D % 98% Sinoatrial node dysfunction and deafness, CACNA1F % 85% Night[docplayer.net]
  • Cardiomyopathy, hypertrophic, 19, CAMTA1 Cerebellar ataxia, nonprogressive, with mental retardation, CANT1 Desbuquois dysplasia 1, CAPN3 Muscular dystrophy, limb girdle, type 2A, CAPN5 Vitreoretinopathy, neovascular inflammatory, CARD11 B cell expansion[healthdocbox.com]
Asthenia

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]
Ventricular Hypertrophy
  • EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2 DSE is characterized by left ventricular hypertrophy in the absence of a predisposing cardiac or cardiovascular condition.[dnalabs.in]
  • With increasing age, left ventricular hypertrophy and atrial fibrillation could develop ( 21 , 27 ), which are both uncommon in MFS.[annalscts.com]

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]
  • The continuing progression of pain and loss of functional mobility coupled with the inability to receive a proper diagnosis and prognosis led to depression , social withdrawal and overall decreased quality of life (QOL).[omicsonline.org]

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]
  • (Etiology) Ehlers-Danlos Syndrome, Arthrochalasia Type is caused by mutation(s) in the COL1A1 or COL1A2 genes. These genes code for type 1 collagen, which is found in abundance in the human body.[dovemed.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]
  • The genetic etiology of another rare form of EDS associated with PH was established by recognition of the similarity of the neurology features with that of PH due to FLNA mutations.31 Mutations conferring loss of function at the FLNA (encoding Filamin[zdoc.site]

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]
  • […] diagnoseEhlers information and services can be found at: These include:References article cites 25 articlesPCollectionsTopic (190 articles)Surgical diagnostic tests (198 articles)Surgery (371 articles)Screening (public health) (371 articles)Screening (epidemiology[vdocuments.mx]
  • 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]
  • Ehlers-Danlos Syndrome, Arthrochalasia Type is a genetic disorder, and currently, there are no methods or guidelines available to prevent its occurrence.[dovemed.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]

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