Charcot Marie Tooth

Question 1

CMT

Answer 1

hereditary motor sensory neuropathy
aka HMSN or peroneal ms atrophy
initially involves the peroneal N- ant tib, toe ext, evertors, PF
progresses to ms of forearms/hands
skeletal deformities, distal sensory loss, abn DTR

Question 2

etiology

Answer 2

hereditary
autosomal dominant or recessive or X-linked
affects proteins needed for myelination
variable expressivity- can have variations of disease within same family

Question 3

presentation

Answer 3

slowly progressive
begins in childhood- difficult to pinpoint onset
distal symmetrical ms weakness, atrophy, decrease DTR

Question 4

LE

Answer 4

pes cavus
hammer toes
gait- foot drop, steppage
hard to prevent contractures

Question 5

UE

Answer 5

intrinsics of hand

wasting of FA

Question 6

Dx

Answer 6

history, clinical exam, hereditary picture, NCV (N conduction velocity), genetic testing can confirm presence
tx- manage symptoms

Question 7

exercise

Answer 7

will not impact ms wasting
low impact (swim, biking yoga) preferred over high impact exercise

Question 8

PT management

Answer 8

AFO, hand splints, edu on stretch and ROM exercises, edu on proper footwear to increase toe box, edu on sensory loss and skin care protection, adaptive equipment