2.6l. Neurological phenotypes


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SIMD-NAMA

There is so much infiltration in the bones people tend to have contractures, stiffness of the joints because the joints are not formed properly, there’s friction, they don’t move them as much because of the pain so they can crack in certain positions. The carpal tunnel syndrome from the nerve entrapment, the fractures when you have Gaucher - when you have severe osteoporosis. Other abdominal pain can be very debilitating in somebody who has Gaucher Disease and an enormous liver and spleen puts pressure on the internal organs. That’s going to distend the patient's abdomen, they’re going to have nausea, they’re going to have bloating, they’re going to have pain, they’re going to have constipation, not just from the mechanical obstruction but also due to deposition maybe of the substrate within the GI walls that are causing some autonomic dysfunction with dysmotility. Chronic constipation is often severe, and again Fabry Disease with the acrasposesia can become chronic and can be punctuated by acute crises.

 

 

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