NEURO-MUSCULOSKELETAL MANIFESTATIONS IN FABRY DISEASE

Abstract

Fabry Disease (FD) is a treatable lysosomal storage disorder. It is a genetic disease, diagnosis is often delayed or missed. FD is an inborn error of metabolism with clinical manifestations beginning from birth or observed much later, in adulthood. Identifying the disease as quickly as possible leads to a better clinical outcome. The objective of this review is to describe the neuro-musculoskeletal manifestations of FD, that can be easily confused with manifestations of other diseases. With this review, we want to draw attention to this condition, promote it, and succeed, we hope, in improving the speed of its diagnosis to obtain a better clinical outcome. An earlier diagnosis can lead to a better therapeutic intervention. Keywords: Fabry Disease (FD), α -galactosidase A, acroparesthesia, enzyme replacement treatment, musculo-skeletal symptoms.