NEW updates, "diagnosis", and more
THANK YOU SO MUCH. With your help, we’ve been able to help Nat even more than before.
We want to send a BIG thank you to the thousands of individuals who shared this page and even submitted suggestions, ideas, prayers, and more.
Diagnosis:
Sounds strange.. that is because it is. Nat G is one of the few people documented with this specific mutation. We sometimes talk about this is if it is a diagnosis but we have been told that is not correct. THIS IS NOT A DIAGNOSIS! This is a mutation that gives us a path to go down.
“A mutation in PYROXD1 is known to be a cause of autosomal recessive limb-girdle muscular dystrophy. The affected individual with a homozygous recessive PYROXD1 mutation showed progressive muscle weakness with an onset at the age of 9 years. Initial symptoms included excessive falling while running, with slowly progressive weakness. Difficulty navigating stairs by the age if 18, and loss of ambulation at the age of 37 years.”
