18 February 2023

Hereditary geniospasm


Fascinating, and totally new to me.  The embed above is a copypasted screencap; at the New England Journal of Medicine the video (gif) is clickable (but may be behind a paywall).

Addendum:  An anonymous reader found this video of the disorder in an adult.

6 comments:

  1. Progress, science, the knowledge of what make humans tick, is growing by leaps and bounds. Also renaming of things we'd observed but just accepted because the Doctor didn't know so said don't worry about it. You can be sure Big Pharma is on it, working on they hope a new drug to patent, but at least an existing one to boost sales.
    xoxoxoBruce

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  2. It might just be me, but I could not see the gif.

    The NEJM allows 2 free articles/month with a free account.

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    Replies
    1. You were probably paywalled. I thought they allowed new visitors one or two clicks before implementing that. In any case, the brief GIF showed a rapid twitching of the lower lip.

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    2. I found this. With video of an adult.

      https://n.neurology.org/content/91/8/e792

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    3. Excellent. Link boosted up to the body of the post. Thank you.

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  3. Amazing what is found sailing through shallow genetic pools.

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