NEW updates, "diagnosis", and more for Ninja Warrior
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Ninja Warrior's Diagnosis:
Nat G’sDiagnosis: PYROXD1 Disorder (MFM8)
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.”