Atypical Symptom of Ehlers-Danlos Syndrome Impeding Diagnosis: Feeling of Spinal Instability

Gasik, Robert; T, Styczyński

doi:10.3899/jrheum.081146

Cited by 1 publication

(1 citation statement)

References 7 publications

(6 reference statements)

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“…Defective collagen fibers in tendon and ligament cells have reported in several genetic diseases; one in particular is EDS, in which abnormalities in collagen fibrils are observed in all six subtypes (52). One of the EDS subtypes, termed kyphoscoliotic type (or EDS type VI), exhibits spinal instability and kyphoscoliosis (53, 54). However, these patients have severe abnormality in other parts of the body, including corneal fragility and joint hypermobility, muscle hypotonia at birth, and arterial rupture (52).…”

Section: Discussionmentioning

confidence: 99%

Deletion of Mecom in mouse results in early-onset spinal deformity and osteopenia

Juneja

Vonica

Zeiss

et al. 2014

Bone

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Recent studies have indicated a role for a MECOM allele in susceptibility to osteoporotic fractures in humans. We have generated a mutation in Mecom in mouse (termed MEm1) via lacZ knock-in into the upstream transcription start site for the gene, resulting in disruption of Mds1 and Mds1-Evi1 transcripts, but not of Evi1 transcripts. We demonstrate that MEm1/m1 mice have severe kyphoscoliosis that is reminiscent of human congenital or primary kyphoscoliosis. MEm1/m1 mice appear normal at birth, but by 2 weeks, they exhibit a slight lumbar lordosis and narrowed intervertebral space. This progresses to severe lordosis with disc collapse and synostosis, together with kyphoscoliosis. Bone formation and strength testing show that MEm1/m1 mice have normal bone formation and composition but are osteopenic. While endochondral bone development is normal, it is markedly dysplastic in its organization. Electron micrographs of the 1week postnatal intervertebral discs reveals marked disarray of collagen fibers, consistent with an inherent weakness in the non-osseous connective tissue associated with the spine. These findings indicate that lack of ME leads to a complex defect in both osseous and non-osseous musculoskeletal tissues, including a marked vertebral osteopenia, degeneration of the IVD, and disarray of connective tissues, which is likely due to an inherent inability to establish and/or maintain components of these tissues.

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