Does anyone have any experience of AATD (Alpha-1 Antitrypsin Deficiency)?
I haven't been tested for it, but there are AATD-causing genetic mutations on both sides (inherited from both parents).
It most commonly affects the liver (fatty liver disease/high ALT levels) or lungs (COPD), but a study by Ebbert also implicated the gene in ALS, and a study by Emwas said that 40% of people with neurodegeneration disorders have mutations in this gene.
It is claimed to be much under-diagnosed, and I wonder whether anyone else has been tested for it.
I haven't been tested for it, but there are AATD-causing genetic mutations on both sides (inherited from both parents).
It most commonly affects the liver (fatty liver disease/high ALT levels) or lungs (COPD), but a study by Ebbert also implicated the gene in ALS, and a study by Emwas said that 40% of people with neurodegeneration disorders have mutations in this gene.
It is claimed to be much under-diagnosed, and I wonder whether anyone else has been tested for it.