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ME/CFS: A disease at war with itself
We can all agree that ME/CFS is a nasty disease, particularly in its severe form, but there are abundant nasty diseases in the world. What is unique and particularly confounding about our disease is that so much controversy surrounds it, and not only surrounds it, but invades it too.
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pectus excavatum

Discussion in 'Connective Tissue Disorders/Ehlers-Danlos Syndrome' started by Mya Symons, Jun 8, 2013.

  1. Allyson

    Allyson *****

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    not sure where you are in the world Mya but this is intersting on missed EDS Dx - also inlcudes upright MRIs to measure postural drop iin blood flow

    This young first noticed symptoms fo her congenital condition whne she wasat university.


    http://www.thewhig.com/2013/06/07/a-systemic-lack-of-awareness-of-eds


    A
  2. Allyson

    Allyson *****

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    Australia, Melbourne
    found it Mya


    Ehlers-Danlos Syndrome, Kyphoscoliotic Form


    Synonyms: EDS, Kyphoscoliotic Form; EDS Type VI; EDS VI; Ehlers-Danlos Syndrome Type VI; Lysyl-Hydroxylase Deficiency. Includes: Ehlers-Danlos Syndrome Type VIA, Nevo Syndrome

    Heather N Yeowell, PhD and Beat Steinmann, MD.



     

    Initial Posting: February 2, 2000; Last Update: January 24, 2013.

    Go to:



    Summary


    Disease characteristics. Ehlers-Danlos syndrome (EDS), kyphoscoliotic form (previously known as EDS VI) is a generalized connective tissue disorder characterized by friable, hyperextensible skin, thin scars, and easy bruising; generalized joint laxity; severe muscular hypotonia at birth; progressive scoliosis, present at birth or within the first year of life; and scleral fragility with increased risk of rupture of the globe. Intelligence is normal; life span may be normal, but affected individuals are at risk for rupture of medium-sized arteries and respiratory compromise if kyphoscoliosis is severe.

    Diagnosis/testing. EDS, kyphoscoliotic form is caused by deficient activity of the enzyme procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1, or lysyl hydroxylase 1). The diagnosis of EDS, kyphoscoliotic form relies on the demonstration of a markedly increased ratio of deoxypyridinoline to pyridinoline crosslinks in urine measured by high-performance liquid chromatography (HPLC) (a highly sensitive, specific, and inexpensive test) and/or assay of lysyl hydroxylase enzyme activity in skin fibroblasts. Molecular genetic testing of PLOD1, the only gene in which mutations are known to cause EDS, kyphoscoliotic form, is available.


    A



     

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