Charcot Marie Tooth:

Please examine the Lower Limbs of this lady who has had multiple falls

Clinical Examination:

Classical Signs Additional Signs

- Inverted champagne bottle legs - Wasting of hand muscles

- Pes cavus (severe HSMN)
- Symmetrical, predominantly motor - High stepping gait (bilat foot
peripheral neuropathy drop)
- Mild sensory impairment - Walking aids
- Absent ankle jerks - Lateral popliteal nerve
- Clawing of the toes thickening
- Scoliosis
-
Common discussion topics:
What hereditary neuropathies are there?
What other features are associated with HSMN?
How would you manage this patient?

Quick Revision:
Differential diagnosis : See causes of Peripheral Neuropathy

Hereditary neuropathies Management

o The most common types are o Genetic Counselling

dominantly inherited: o Consider functional status and
o HSMN type I: demyelinating involve MDT - OT, PT
neuropathy o Walking Aids
o HSMN type II: axonal neuropathy
o X-linked Charcot-Marie Tooth
o Other associations:
o Optic atrophy, retinitis
pigmentosa