WebJul 8, 2024 · Emergency Department Care. Respiratory insufficiency, associated cardiomyopathy, heart block, and aspiration may result from severe myopathy. … WebNov 7, 2024 · Myopathic EDS or HSD with Myopathy COL12A1 VUS laniemsmith Nov 6, 2024 • 11:04 PM (edited Nov 06) I've been around a while but this is my first post. I'm on the verge of being diagnosed with something... or not. I came back with a variation of unknown significance (VUS) on COL12A1.
What are the Characteristics of Ehlers-Danlos Syndrome?
WebEhlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders caused by abnormalities in the structure, production, and/or processing of collagen. The symptoms of EDS vary by type and range from mildly loose joints to serious complications. WebSep 27, 2024 · The problems seen in patients with EDS can be due to either the poor strength of collagen. It may alternatively be due to the absence of sufficient amounts of structurally normal collagen. The primary complications seen in EDS involve the skin, muscles, skeleton, and blood vessels. coffee mate hazelnut creamer 32 oz
Myopathic EDS or HSD with Myopathy COL12A1 VUS
WebMay 13, 2024 · EDS can be of several types: Classical Type EDS (cEDS) Vascular EDS (vEDS) Cardiac-valvular EDS (cvEDS) Classical-like EDS (clEDS) Hypermobility Type EDS Periodontal EDS (pEDS) Arthrochalasia EDS (aEDS) Kyphoscoliotic EDS (kEDS) Dermatosparaxis EDS (dEDS) Spondylodysplastic EDS (spEDS) Brittle Cornea Syndrome (BCS) Myopathic EDS … Web12 Myopathic EDS mEDS AD or AR COL12A1 Type XII collagen 13 Periodontal EDS pEDS AD C1R C1r C1S C1s Abbreviations: IP, inheritance pattern; AD, autosomal dominant; AR, autosomal recessive, NMD, nonsense-mediated mRNA decay. Lohkamp et al. 1863. EDS patients are summarized. Case reports and editorials were WebMyopathic EDS (mEDS) 25 contributors latest: 4mth upcoming Initial insights 50 100 500 2,000 10K 25 more contributors to this goal 25 more contributors are needed to reach this … coffee mate hazelnut creamer 64 oz