Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndrome.

Rocio Nur Villar QuilesDamien SternbergGrégoire TredezNorma Beatriz RomeroTeresinha EvangelistaPascal LafôretPascal CintasGuilhem SoleSabrina SacconiSaid BendahhouJérôme FranquesClaude CancesJ B NouryEmilien DelmontPatricia BlondyLaurence PerrinMarianne HezodeEmmanuel FournierBertrand FontaineTanya StojkovicSavine Vicart

Published in: European journal of neurology (2022)

Recognition of atypical features (exercise-induced pain or myalgia and permanent weakness) along with any of the elements of the triad should arouse suspicion. The ENMG long-exercise test has a high diagnostic yield and should be performed. Early diagnosis is of utmost importance to improve disease prognosis.

Keyphrases

chronic pain
high intensity
pain management
neuropathic pain
physical activity
case report
spinal cord
myasthenia gravis