Charcot Marie tooth

Question 1

what is CMT?

Answer 1

Charcot-Marie-Tooth disease comprises a group of

hereditary peripheral neuropathies - Motor AND Sensory

with different genetic abnormalities.

Question 2

characterise CMT in presentation?

Answer 2

Usually symmetrical;

Difficulty walking
Balance issues as a child

Reduced muscle strength
Reduced sensation

Question 3

Signs on examination of CMT?

Answer 3

Foot deformity - Pes cavus -> High-arched feet and hammer toes

distal muscle atrophy eg peronea muscles

steppage gait

hyporeflelxia / areflexia

reduced power

sometimes kyphoscoliosis

Question 4

ivx findings of CMT?

Answer 4

1. Nerve conduction findings;
   symmetrical
   Can be Axonal - Reduced amplitude
   or demyelinating - reduced velocity >38ms
2. Genetic testing

Question 5

mx?

Answer 5

physiotherapy

occupational therapy - for ways around ADLs

Bracing

orthopaedic surgery