Fabry disease, an overview and the most common neurological manifestations

Abstrakt

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 cur rent knowledge about Fabry disease with emphasis on its neurological manifestations.

Klíčová slova

• Fabry disease
• small fi ber neuropathy
• stroke
• enzyme-replacement therapy