What is congenital hypomyelination neuropathy in Charcot-Marie-Tooth (CMT) disease?

Updated: Feb 19, 2019
  • Author: Francisco de Assis Aquino Gondim, MD, MSc, PhD, FAAN; Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
  • Print
Answer

Answer

Patients with CHN present with neonatal hypotonia, areflexia, distal weakness, slow nerve conduction velocities, and at times with contractures or arthrogryposis. Just like DSS, it may result from MPZ or EGR2 mutations, as well as separate mutations in the same or different genes inherited from both parents or from one mutation inherited from one parent combined with a de novo mutation in the same or another gene.


Did this answer your question?
Additional feedback? (Optional)
Thank you for your feedback!