Abstract

RIOS GOMES BICA, Blanca Elena; SALDARRIAGA RIVERA, Lina Maria  and  VALDETARO BIANCHI, Breno. Musculoskeletal manifestations of Fabry´s disease: a case report. Rev Cuba Reumatol [online]. 2014, vol.16, suppl.1, pp. 395-399. ISSN 1817-5996.

Anderson-Fabry´s disease is a genetic and hereditary disorder caused by the deficiency or absence of the enzyme alpha-galactosidase leading to accumulation of globotriacilceramida in different cells causing many clinical manifestations. It is considered the second most common storage disease after Gaucher´s disease. We describe a patient who presented musculoskeletal manifestations of Fabry´s disease.

Keywords : Fabry´s disease; musculoskeletal manifestations; genetics.

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )