[Musculoskeletal manifestations in lysosomal storage diseases]

Lysosomal Storage Diseases (LSD) is a group of metabolic disorders caused by the deficiency of lysosomal enzymes needed for metabolism of lypids, glycoproteins, mucopolysaccharides. Deficit causes their progressive accumulation within the cells of various tissues throughout the body, ultimately compromising cell function. The major sites of disease differ depending on the specific enzyme deficiency; therefore, clinical presentation present a chronic multisystemic and progressive course and approaches to therapy are different for the various disease types. Because of multisystemic involvement in patients with LSD, treatment is multidisciplinary and encompasses both the curative and palliative elements. Replacing the deficient enzyme by enzyme replacement therapy (ERT), produced by recombinant DNA technology, may provide clinically important benefits, improve symptoms and delay disease-induced complications. Patients with lysosomal storage diseases demonstrate musculoskeletal manifestations (myopathy, joint contractures, vertebral deformities) early in life. Regular evaluation and recognition of musculoskeletal manifestations as an early symptom of LSD is important, because the posibility of early management of LSD before ireversible changes, can be provided.