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Abstract
Fabry disease is a rare X-linked metabolic disorder characterized by a deficiency
in the enzyme alpha-galactosidase A. Both males and females can be affected. The main
presenting symptom is pain in the extremities, whereas at a more advanced stage, the
manifestations include hypertrophic cardiomyopathy, cardiac dysrhythmia, proteinuria,
chronic kidney dysfunction, stroke, and hearing loss. When not diagnosed and treated,
Fabry disease causes early death. No studies specifically designed to describe the
musculoskeletal manifestations of Fabry disease are available.