Charcot-Marie-Tooth Syndrome PatientPlus

Description: This is an inherited sensorineural peripheral polyneuropathy first described independently by Charcot and Marie in France and Tooth in England in 1886.
CMT1 or hereditary motor and sensory neuropathy type 1, HMSNI. This is the most common form. Onset usually by age 10 with:
* Weakness
* Muscle wasting
* Sensory loss predominantly in the distal legs, or distal arms
* Generalised tendon areflexia
* There may be foot drop and foot deformity - pes cavus has a 25% occurrence rate in the first decade of life and a 67% occurrence rate in later decades
* Spinal deformities e.g. thoracic scoliosis occur in 37-50% of patients with CMT type
* Hammer toes, high arches and flat feet are also seen
* Pressure palsies are common
* It may be possible to palpate enlarged and excessively firm nerves
* Ankle sprains and fractures are common secondary to muscular weakness
* Pain and temperature sensations are usually not affected because they are carried by unmyelinated (type C) nerve fibres