Milde Mukopolysaccharidose-Formen

Joint stiffness and contractures, combined with skeletal abnormalities and bilateral hip dysplasia without signs of inflammation, may lead to the diagnosis of a rare inherited disease: mucopolysaccharidosis (MPS). MPSs are a group of lysosomal storage disorders caused by a deficiency of lysosomal enzymes, which are responsible for the degradation of glycosaminoglycans (GAGs), important components of the connective tissues. The enzyme defect triggers complex pathophysiological cascades leading to the storage of GAGs in the cells. This affects almost all organs and organ systems. The accumulation of non-degraded GAGs leads to a variety of progressive somatic and neurological symptoms, including skeletal, musculoskeletal and cardiorespiratory complications. Some MPS types also result in a mental decline. Early diagnosis, appropriate management and therapies available for some MPS types may improve patients' quality of life and lead to a slowing of progression or prevention of irreversible complications. There is no typical MPS symptom. Only the sum of numerous non-specific and variable symptoms may lead to the diagnosis. Therefore, attenuated or milder MPS types are often overlooked, diagnosed late and mistaken for a rheumatological disease (with an uncharacteristic course).