Laxity in Hypermobility Syndrome, Hypermobile Connective Tissue Disorders
What are Hypermobile disorders of connective tissue (HDCT) & EDS?
HDCT are a heterogenous collection of disorders of the connective tissue. Mutations affect collagen and the way it behaves resulting in tissue hyper-distensibility and joint laxity.
Specifically, mutations change the way collagen folds and organizes itself. Collagen has to form properly from DNA translation into RNA and transcription into protein structucture that must fold correctly to function properly. Mutations change the structure, folding, and function of collagen through changes in the collagen structures itself or the proteins that influence the cleavage, folding and, thus, behavior of collagen. The affected genes and the expression of these genes affect the degree of clinical signs and symptoms.
