Autoszomális recesszív
Caused by changes in both copies of CCN6 (previously called WISP3), a gene needed to maintain joint cartilage. Each parent usually carries one changed copy.
Tünetek és jelek
Joint stiffness, swelling of the finger joints and reduced movement usually begin between about 3 and 8 years of age and slowly progress to the knees, hips and spine. Flattened vertebrae, short trunk and an abnormal walking pattern are features, while blood markers of inflammation stay normal. Early osteoarthritis develops in adulthood.
Mit változtat a diagnózis
Physiotherapy and pain management, with joint replacement surgery for advanced hip or knee damage. Recognising the condition helps avoid treating it as inflammatory arthritis, as it is often mistaken for juvenile arthritis. Genetic counselling and carrier testing of relatives clarify recurrence risk.
Vizsgált gének
Más néven
arthropathy, progressive pseudorheumatoid, of childhood; PPAC; PPD; progressive pseudorheumatoid chondrodysplasia; SEDT-PA; spondyloepiphyseal dysplasia tarda - progressive arthropathy; spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
