Presentation
Some dermatological symptoms are present as follicular hyperkeratosis and tendency to form adherence in scars. [pepsic.bvsalud.org]
The present report intends to emphasize the wide spectrum of phenotypes that can be associated to collagen VI deficiency. [scielo.br]
OBJECTIVE: To evaluate the clinical picture of CMD patients with Ullrich phenotype who presented decreased or absent collagen VI immunoreactivity on muscular biopsy. [bases.bireme.br]
Treatment
Most cases are inherited in an autosomal dominant manner, but in rare cases the disease is autosomal recessive .[1][2] The diagnosis is based on clinical examination and laboratory tests, but genetic testing may confirm the diagnosis.[2] Treatment depends [rarediseases.info.nih.gov]
Its treatment is based on motor and aquatic physiotherapy once a week, occupational therapy also once a week and supraloral orthosis associated with extensor splint alternately, but it is difficult to adhere. [pepsic.bvsalud.org]
Références bibliographiques Arbogast S, Beuvin M, Fraysse B, et al. (2007) Oxydative stress in SEP N1-related myopathy:from pathophysiology to treatment. [link.springer.com]
Prognosis
COL6A3 genes, encoding respectively the alpha 1, alpha 2 and alpha 3 chains of collagen VI, and show clinical and genetic heterogeneity; therefore mutation detection in essential in these disorders for allowing the correct diagnosis, the establishment of prognosis [scielo.br]
Pathophysiology
Muscle proteomics reveals novel insights into the pathophysiological mechanisms of collagen VI myopathies. Journal of Proteome Research, v. 13, n. 11, p. 5022-5030, Sept. 2014. doi: 10.1021/pr500675e [ Links ] PARK, Y. et al. [pepsic.bvsalud.org]
Références bibliographiques Arbogast S, Beuvin M, Fraysse B, et al. (2007) Oxydative stress in SEP N1-related myopathy:from pathophysiology to treatment. [link.springer.com]
Prevention
Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion. J Biol Chem 1999;274:21817-21822. [ Links ] 11. Pepe G, Giusti B, Bertini E, et al. [scielo.br]