Charcot-Marie-Tooth/HSMN

Question 1

HSMN definition

Answer 1

Autosomal dominant condition
Peripheral myelin protein 22

Question 2

HSMN signs (lower limbs)

Answer 2

Distal wasting of legs + weakness
Foot drop -> looks for scars
Pes cavus/high arch foot
Motor symptoms > sensory symptoms
Reflexes (w/ potentiation) are absent + downgoing plantars
Flaccid tone
Distal pansensory loss -> stocking distribution
Reduced vibration + joint position sense
Rhombergs +VE as sensory ataxia

Question 3

HSMN signs (upper limbs)

Answer 3

Distal wasting of hands + weakness
Hyporeflexia
Reduced vibration + joint position sense
Reduced sensation -> Glove distribution

Question 4

Investigations of HSMN

Answer 4

Neurophysiology + nerve conduction studies
Genetic testing

Question 5

Management of HSMN

Answer 5

MDT approach:
Neurologists
Orthopaedic surgeons
PT/OT -> Walking aids + orthoses
Analgesia
Patient exercise
Genetic testing for family members