Sonja Holm-Yildiz, Thomas Krag, Nanna Witting, Britt Stævnsbo Pedersen, Tina Dysgaard, Louise Sloth, Jonas Pedersen, Rebecca Kjær, Linda Kannuberg, Julia Dahlqvist, Josefine de Stricker Borch, Tuva Solheim, Freja Fornander, Anne-Sofie Eisum, John Vissing
BACKGROUND AND OBJECTIVES: Primary hypokalemic periodic paralysis (HypoPP) is an inherited channelopathy most commonly caused by mutations in CACNA1S. HypoPP can present with different phenotypes: periodic paralysis (PP), permanent muscle weakness (PW), and mixed weakness (MW) with both periodic and permanent weakness. Little is known about the natural history of HypoPP. METHODS: In this 3-year follow-up study, we used the MRC scale for manual muscle strength testing and whole-body muscle MRI (Mercuri score) to assess disease progression in individuals with HypoPP-causing mutations in CACNA1S...
September 1, 2023: Journal of Neurology