Fabry disease, an overview and the most common neurological manifestations

Abstract

Fabry disease is a rare inherited lysosomal storage disorder. Patients with classical multisystemic disease have frequent neurological manifestations.

It is of great importance for patients to be diagnosed early and properly since there is specific disease therapy available. This article provides an overview of current knowledge about Fabry disease with emphasis on its neurological manifestations.

Keywords

• Fabry disease
• small fiber neuropathy
• stroke
• enzyme
• replacement therapy