Scottishpaeds

General paediatrics with a Scottish flavour

Skip to content
  • Guidelines
  • General Paediatrics
  • Neonates
  • Generic
  • Other Medical
  • Dr Adrian Sie
  • Latest

Charcot Marie Tooth syndrome

October 1, 2018General paediatrics, Neurologyadmin

Autosomal dominant, hereditary sensory and motor neuropathy.

PMP22 gene mutations in 40% (type 1A).

Distal numbness/weakness/atrophy, foot drop, later pes cavus, champagne bottle deformity.  Can be demyelination even when asymptomatic.

See also Hereditary neuropathy with liability to pressure palsy (HNPP).

Post navigation

← Hereditary neuropathy with liability to pressure palsy (HNPP) Polymicrogyria →

Recent Posts

  • Tree nut immunotherapy
  • Cyclical Vomiting Syndrome
  • Tetanus
  • Avian influenza
  • Topical Steroid Withdrawal

Categories

Meta

  • Log in
  • Entries feed
  • Comments feed
  • WordPress.org

Categories

Proudly powered by WordPress