Charcot-Marie-Tooth disease (CMTD) is a hereditary demyelinating peripheral neuropathy clinically presenting with sensory and motor defects, but rarely affecting cardiac function. Long QT syndrome (LQTS) is a congenital or acquired cardiovascular disorder characterized by ventricular depolarization defect. No studies reported CMTD in association with LQTS. We describe a child and his family who had both CMT1A and LQTS.
- Demyelinating sensorimotor neuropathy
- Ion channels
- Long QT syndrome
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health