What is Fabry disease? Fabry disease is a rare X-linked condition caused by mutations or pathogenic variants in the GLA gene that codes for a lysosomal enzyme called alpha galactosidase A or alpha-gal A.

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This video explains that Fabry disease is a rare, inherited condition, caused by the lack of an enzyme, as a result of a genetic change on the X-chromosome. The video illustrates the inheritance patterns of Fabry disease and the wide range of physical signs and symptoms associated with the condition. Additionally, the video highlights that although there is no cure for Fabry disease, early diagnosis is essential to ensure timely treatment and management of the disease.

INTSP/EXA/FAB/15/0071(1)
Date of preparation: February 2017
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What does it look like when someone with and someone without EDS is tested on the EDS criteria?
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WHAT’S EHLERS-DANLOS SYNDROME?
EDS is a genetic connective tissue disorder that causes certain mutations to aspects or types of connective tissues and results in connective tissue that is abnormally weak, fragile, and stretchy. Connective tissue is found in all parts of the body, including your organs, ligaments, and joints. As a result, people with EDS can be affected in all of these areas, as well as more. The most common symptoms and co-morbidities include pain, dysautonomia, dislocations, GI tract dysmotility, severe joint instability, and many more. The disorder is somewhat rare, estimated to affect around 1 in every 5,000 people. However, it’s speculated by many to not be as rare as we once believed.

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