PND: Charcot Marie Tooth Disease

Question 1

what is the most commonly inherited neurological disorder?

Answer 1

CMT
males > females

Question 2

what is charcot marie tooth disease

Answer 2

progressive muscle weakness
eventually affects both motor and sensory nerves
mutation in genes that produce proteins involved in the structure, maintenance and formation of primarily the myelin sheath

Question 3

what is the hallmark pathological sign for CMT

Answer 3

hypertrophic onion bulb formation

Question 4

clinical motor signs of CMT

Answer 4

distally, symmetric muscle weakness, atrophy, diminshed DTRs

motor loss then sensory loss
LE first then UE

Question 5

LE weakness present in CMT

Answer 5

DF and ankle evertor weakness
loss of muscle bulk in distal LE + hypertrophy of proximal LE
high arches, hammer toes, inverted heel, flat feet

Question 6

UE weakness present in CMT

Answer 6

claw hand
atrophy of lumbricals/interossei

Question 7

what other clinical motor signs can be present in CMT

Answer 7

mild scoliosis
hip dysplasia

Question 8

what sensory tracts are involved in CMT

Answer 8

medial lemniscus - discriminative touch, vibratory, proprioceptive

Question 9

management of CMT?

Answer 9

rehab - no cure
may require surgery

Question 10

intervention strategies for CMT

Answer 10

strengthening and aerobic activity - mod intensity
orthoses
appropriate footwear
podiatry consult
ROM management
balance training