[en] A 27-year-old man complained of cervicoscapular and forearm weakness and amyotrophy. Electromyographic evaluation showed neuromuscular transmission dysfunction and a repetitive compound muscle action potential to a single stimulus. Prostigmine did not improve neuromuscular transmission. The genetic analysis of the patient's lymphocytes demonstrated a chromosomic 2q31-9p27 translocation. The combination of the clinical and electrophysiological data as well as the lack of auto-immunity signs against neuromuscular junction constituents led to the diagnosis to congenital postsynaptic myasthenic syndrome also called slow channel syndrome. This congenital myasthenic syndrome is for the first time associated with an autosomal translocation 2q31-9p27.
Disciplines :
Neurology
Author, co-author :
Zeevaert, Bernard ; Centre Hospitalier Universitaire de Liège - CHU > Médecine de l'appareil locomoteur
Hansen, Isabelle ; Centre Hospitalier Universitaire de Liège - CHU > Neurologie Sart Tilman
Crielaard, Jean-Michel ; Centre Hospitalier Universitaire de Liège - CHU > Médecine de l'appareil locomoteur
Wang, François-Charles ; Centre Hospitalier Universitaire de Liège - CHU > Médecine de l'appareil locomoteur
Language :
French
Title :
Syndrome du canal lent associe a une translocation autosomique 2q31-9p27.
Alternative titles :
[en] Slow channel syndrome due to an autosomal translocation at 2q31-9p27
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