Charcot-Marie-Tooth disease type 1B and other CMT neuropathies associated with MPZ mutations
Dec. 22, 2022
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(a) On execution of a requested movement (“raise your right hand toward the head”) intense repeated myoclonias maximal in the agonist arm muscles are followed by atonias of long (more than 500 ms) duration, with or without multiple spikes and slow waves on the EEG. (b) Erratic-fragmentary myoclonus at rest: asynchronous in agonist and antagonist muscles, with or without overt EEG correlate (back-average analysis, not performed here, may be useful to unveil eventual EEG potentials). (Courtesy of Dr. C A Tassinari. From: Tassinari CA, Cantalupo G, Rubboli G. Polygraphic recording of epileptic seizures. In: Panayiotopoulos CP, editor. Atlas of epilepsies. London: Springer, 2010:723-40.)