6533b853fe1ef96bd12ac33e

RESEARCH PRODUCT

Mucopolysaccharidoses and other lysosomal storage diseases.

Cinzia Maria BellettatoNesrin KarabulMaurizio ScarpaChristina Lampe

subject

musculoskeletal diseasesmedicine.medical_specialtyPathologyMucopolysaccharidosisPainOsteochondrodysplasiasHip dysplasia (canine)RheumatologyInternal medicineLysosomal storage diseasemedicineHumansMusculoskeletal DiseasesBone painHip Dislocation CongenitalMuscle contractureHip Contracturebusiness.industryOsteonecrosisMucopolysaccharidosesPrognosismedicine.diseaseOsteopeniaBone Diseases MetabolicEarly DiagnosisHip ContractureOrthopedic surgeryHip JointJointsJoint Diseasesmedicine.symptomLysosomesbusiness

description

Mucopolysaccharidosis and other lysosomal storage diseases are rare, chronic, and progressive inherited diseases caused by a deficit of lysosomal enzymes. Patients are affected by a wide variety of symptoms. For some lysosomal storage diseases, effective treatments to arrest disease progression, or slow the pathologic process, and increase patient life expectancy are available or being developed. Timely diagnosis is crucial. Rheumatologists, orthopedics, and neurologists are commonly consulted due to unspecific musculoskeletal signs and symptoms. Pain, stiffness, contractures of joints in absence of clinical signs of inflammation, bone pain or abnormalities, osteopenia, osteonecrosis, secondary osteoarthritis or hip dysplasia are the alerting symptoms that should induce suspicion of a lysosomal storage disease.

10.1016/j.rdc.2013.03.004http://hdl.handle.net/11577/2581845