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  1. G

    Dync1h1 mutation

    I am not sure if anyone has used nebula for full exome sequencing. They put polygenic score for Parkinson’s and ALS for me at 100 percentile and incidentally I found a possible pathogenic mutation in Dync1h1 gene. I would suggest staying away from the polygenic score as it does not predict...
  2. G

    New onset of myoclonus after bulbar symptoms

    My children 12 and 5 had bulbar weakness with dysphagia, dyspnea and dysarthria. Their pediatrician thinks they have neurodegenerative disease. Now they have new onset of myoclonus mostly during sleep. Both started on one side of the body. So has the shoulder twitch and he lost 15 lbs and lots...
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