Joint laxity

Ligamentous laxity can be the cause of a chronic pain and may lead to osteoarthritis and joint degeneration.  If the condition affects all the joints in the body, it is called generalized joint hypermobility. The joints most commonly affected are the knees, shoulders, elbows, wrists, and fingers. Ligamentous laxity can be genetic and because several genes associated with skeletal dysplasias are also expressed in other musculoskeletal tissues, it may present as a complication in these conditions (for example Marfan syndrome and pseudoachondroplasia present with joint laxity as a complication).

Pseudoachondroplasia (PSACH) results from mutations in COMP gene which encodes a protein involved in collagen fibrillogenesis. Since tendons and ligaments are made up mostly of collagen fibres, it is not surprising that these connective tissues are also affected in PSACH, leading to progressive joint instability and degeneration. PSACH serves as an example showing that understanding the various components of a skeletal condition is of vital importance for the proper management and treatment of the patients and that it is important to consider all musculoskeletal tissues in the joint when making a diagnosis.

ddp46605From Hum Mol Genet. 2010 Jan 1;19(1):52-64.