Shoutout to #EAN2020 @EANeurology for the high yield pearls on #ataxia. Checkout the free #EAN2020 #ataxia workshops for more details but here are a few with my added comments. #MedEd #neurology #MedStudentTwitter #AcademicChatter #doubledoc #neurologyresident @movedisorder
If you think the patient has cerebellar ataxia, think about acquired vs inherited causes. Most common acquired causes are Vitamin (E, B12, B1), Immune (Celiac), Paraneoplastic (Hu, Yo, GAD). Or VIP -cuz it’s Very Important to rule out - as these can be treated. #MedEd #MedTwitter
Then if it’s an older person with autonomic and/or Parkinsonian symptoms - think #MSA-C. But this is #neurodegenerative. #MedTwitter #MedEd #MedStudentTwitter #AcademicTwitter #doubledoc we need research on how to delay progression. @movedisorder
But young or old, think about genetic causes as these can present young or old - for the SCAs, depends on the number of CAG repeats. Remember that these are autosomal dominant. Most common ones are SCA1,2,3,6.#MedTwitter #MedEd #MedStudentTwitter #AcademicTwitter #doubledoc
If you test these 4, you hit 2/3 of the inherited cerebellar ataxias. So you don’t have to throw the kitchen sink. Remember they are CAG repeats so you can’t do NGS on them as that can’t detect huge deletions, duplications, repeats. #MedTwitter #MedStudentTwitter #MedEd
You should test for genes because an ASO for SCA3 might be along the way. Otherwise no disease modifying therapies - and riluzole doesn’t seem to work either. #MedTwitter #MedStudentTwitter #MedEd #doubledoc #AcademicTwitter #MedEd @movedisorder
@threadreaderapp pls unroll
