GeneReviews: OMIM Pleiotropic dyskinesia AD (choreiform, myoclonic, dystonic) mainly involving the limbs, neck, and/or face. Paroxysmal worsening triggered by anxiety or drowsiness. Axial hypotonia, developmental delay, abnormal saccades, spasticity. GeneReviews OMIM 600293 Predominant ataxias Paroxysmal ataxia with AD EA1 interictal myokymia GeneReviews OMIM 160120 Paroxysmal ataxia with AD EA2 vertigo, nausea, headaches, weakness and other manifestations, often favorable response to acetazolamide
GeneReviews: OMIM Pleiotropic dyskinesia (choreiform, myoclonic, dystonic) mainly involving the limbs, neck, and/or face. Paroxysmal worsening triggered by anxiety or drowsiness. Axial hypotonia, developmental delay, abnormal saccades, spasticity. GeneReviews OMIM 600293 AD Predominant ataxias Paroxysmal ataxia with interictal myokymia GeneReviews OMIM 160120 AD EA1 Paroxysmal ataxia with vertigo, nausea, headaches, weakness and other manifestations, often favorable response to acetazolamide AD EA2
UpdateTables_PxMD_060117_Ebrahimi_2018_09_11.docx