Charcot Marie Tooth

Question 1

Presentation CMT - LL

Answer 1

Wasting - inverted champagne bottle
Palpable lateral popliteal nerves
Pes cavus and clawing of the toes
Symmetrical distal weakness with foot drop
Absent reflexes
Reduced sensation in a stocking distribution - predominantly loss of vibration sense and proprioception
Positive Romberg;s

Question 2

Presentation - UL

Answer 2

Distal wasting of small muscles of hands, with dorsal guttering and hyperextension deformities
Palpable ulnar nerves
Symmetrical distal weakness
Reduced sensation in a glove distribution

Question 3

What is CMT?

Answer 3

Also called hereditary motor and sensory neuropathies - heterogenous - autosomal dominant/recessive/X linked
Demyelination of the nerve fibres

Question 4

Pain and temperature preserved - why?

Answer 4

Unmyelinated

Question 5

Management

Answer 5

MDT - physio, education and advice, orthoses, walking aids