Manifestations ostéoarticulaires des mucopolysaccharidoses et des glycogénoses

Abstract

Mucopolysaccharidoses (MPS) are a group of inherited metabolic disorders caused by a deficiency of specific lysosomal enzymes. The ubiquitous nature of GAG within the connective tissue of the body results in a wide range of clinical effects. The suspicion of MPS disorder must be raised on musculoskeletal complications: evolving joint pain and joint contractures in the absence of inflammation; growth failure; radiographic abnormalities designated dysostosis multiplex associated with low bone mineral density. Glycogen storage diseases (GSD) are inherited disorders that affect glycogen metabolism. The glycogen found in these disorders is abnormal in quantity, quality or both. GSD that mainly affect the liver usually have hepatomegaly and hypoglycemia as the presenting features. The predominant clinical features of GSD that mainly affect the muscle are muscle cramps, exercise intolerance, susceptibility to fatigue, and progressive weakness. Other musculoskeletal manifestations are growth failure (GSD I, III, VI, VII, IX), hyperuricemia and gout (GSD I, III, V and VII) and osteoporosis (GSD I, II, III).