it's autosomal dominant with reduced penetrance, which means that not everyone with the gene is symptomatic, but everyone who has it has a break in the pipeline which makes dopamine, often around the tetrahydrobiopterin cofactor.
Replies
so, like, i "have" it but don't get symptomatic except after heavy exertion, in which case my calves lock up and it's really hard to pull myself out of tiptoe gait.
sep 1, 2025, 5:24 pm • 7 0 • view
goddamnit
sep 1, 2025, 5:25 pm • 4 0 • view
?
sep 1, 2025, 5:26 pm • 3 0 • view
i am like chronically known for the tiptoe gait because it's more comfortable especially when i am kind of worn down. i have been assuming purely social factor (i refused to wear shoes for many years)
sep 1, 2025, 5:27 pm • 4 0 • view
i also regress to tiptoe gait any time i am, ah, neurologically compromised
sep 1, 2025, 5:28 pm • 3 0 • view
Any other symptoms? I know a very early reader that tiptoes.
sep 1, 2025, 5:41 pm • 1 0 • view
calf pain, wrists and fingers folding under involuntarily into claw position, arm twisting, muscle cramps, sometimes side-foot walking or a scissoring gait
sep 1, 2025, 10:37 pm • 2 0 • view
like, if you have ever seen them twist their arm until their elbows are outward and their hand is pushed as close to the wrist as possible, my sister does that when it's really bad
sep 1, 2025, 10:38 pm • 3 0 • view
Have not seen anything like that. Seems like it's probably not a fit. Was also looking up symptoms earlier and didn't see any other matches either.
sep 1, 2025, 10:47 pm • 0 0 • view
Bluesky needs a guessing game where you try to figure out how the thread got from point A to B.
sep 1, 2025, 10:50 pm • 2 0 • view