WebMar 17, 2024 · Some of the phenotypes clinically overlap with other HCTDs, such as “myopathic EDS,” which is caused by heterozygous or biallelic mutations in COL12A1 ( mEDS) and which clinically overlaps with Bethlem Myopathy, and “spondylodysplastic EDS” caused by biallelic B3GALT6 mutations (spEDS -B3GALT6 ), which clinically overlaps with … 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.
Myopathic EDS - Ehlers-Danlos News
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 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 … hobby lobby hermitage tennessee
VEDS vs. EDS: Why it Matters - The VEDS Movement
WebFeb 26, 2024 · Myopathic EDS (mEDS) Dermatosparaxis EDS (dEDS) Musculocontractural EDS (mcEDS) Periodontal EDS (pEDS) Diagnosis Signs and symptoms vary depending on the type of EDS. While some of the... WebTypes of EDS: Hypermobile EDS Classical EDS Vascular EDS Kyphoscoliosis EDS Arthrochalasia EDS Dermatosparaxis EDS Brittle Cornea Syndrome (BCS) Classical-like EDS (clEDS) Spondylodysplastic EDS (spEDS) Musculocontractural EDS (mcEDS) Myopathic EDS (mEDS) Periodontal EDS (pEDS) Cardiac-valvular EDS (cvEDS) hobby lobby hermitage tn