Neuromuscular Disorders 2020-Mar
"Status myotonicus" in Nav1.4-M1592V channelopathy.
Bare registrerte brukere kan oversette artikler
Logg inn Registrer deg
Koblingen er lagret på utklippstavlen
Nøkkelord
Abstrakt
Nav1.4 channelopathies due to SCN4A mutations can present with episodic attacks of myotonia triggered by fluctuation in the potassium level (potassium-aggravated myotonia). We report a case of potassium-aggravated myotonia due to Nav1.4-M1592V channelopathy with severe and long-lasting focal attacks of myotonia resembling dystonic posturing with diffuse muscle edema in the affected muscles in magnetic resonance imaging and almost constant presence of myotonic discharges in electromyography that can best be described as focal "status myotonicus".