Murat Yildirim KALE, Berk OZYILMAZ, Alp Sencer CALISKAN
Turkish Journal of Neurology - 2026;32(1):95-98
Myotonia is a clinical finding characterized by delayed muscle relaxation following voluntary contraction, typically resulting from ion channel abnormalities at the muscle membrane level. Paramyotonia congenita (PC), a type of nondystrophic myotonia first described by Eulenberg in 1886, is a rare hereditary skeletal muscle channelopathy characterized by cold and exercise induced myotonia, with paradoxical worsening of stiffness upon repeated activity. Herein, we reported a young adult patient with a presumed sporadic SCN4A mutation leading to PC, with no family history and characteristic clinical features.
