i kind of believe the torsional dystonia thing because other dystonias have very distinctive and not always entirely negative neuropsychiatric side effects. it is not particularly common at all, though.
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i mean my other strongest-version of this position is that the bad genes will tend to be on chromosomes or in regions that may have been under selection pressure to conserve, so the genes might themselves correlate with different traits even if the genes are worthless.
sep 1, 2025, 4:41 pm • 5 0 • view
ie, it would actually be the fact that the gene itself is very negative that makes it characteristic, because no germ line carrying that gene would have survived if it had not very strongly had to due to its linkage to other factors
sep 1, 2025, 4:41 pm • 4 0 • view
bonus round: this corresponds with "being heterozygous for this allele is a probable outcome of just the maximum possible survivable mutation load on this area, so P(has this mutation|is alive and has a lot of mutations here)" is high
sep 1, 2025, 4:54 pm • 2 0 • view
like everyone in my family with the gene for dopa-responsive dystonia was reading before the age of three and also almost failed out of high school
sep 1, 2025, 4:41 pm • 15 0 • view
also they were all diagnosed as autistic and then un-diagnosed.
sep 1, 2025, 4:41 pm • 14 0 • view
I’d never heard of this one, am excited to go down this rabbit hole. Is it meant to have any impact on carriers who don’t have symptoms?
sep 1, 2025, 4:56 pm • 4 0 • view
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.
sep 1, 2025, 5:24 pm • 7 0 • view
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