Fabry’s Disease and Dysferlinopathy: co-occurence of two rare genetic disorders
DOI:
https://doi.org/10.34119/bjhrv6n4-093Keywords:
Fabry’s Disease, Dysferlinpathy, limb-girdle muscular dystrophy, case reportAbstract
Fabry’s Disease (FD) is a rare X-linked inherited disorder of glycosphingolipid metabolism due to absent or deficient activity of α-galactosidase A (GLA) enzyme that can present with multisystemic involvement, including painful small fiber neuropathy. Dysferlinopathy is a heterogeneous spectrum of neuromuscular disorders inherited in an autosomal recessive manner. In this report, we present a case of co-occurrence of these two rare genetic disorders
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