DISEASE- charcot marie tooth

Question 1

what - charcot marie tooth?

Answer 1

relatively common inherited disease that affects peripheral motor and sensory nerve

Various types with different genetic mutations and different pathophysiology:
-both demyelination and axonal variants

Question 2

what mutation causes charcot marie tooth?

Answer 2

there are hundred of variants so can be AD, AR, X linked
-the most common HSM1/ CMT1 is autosomal dominant due to PMP duplication (PMP22)

SHARK TOOTH- auto (boat) dominant and the boat is run by 2 pumps PMP22

Question 3

is HSM/CMT 1 a myelin or axonal problem?

Answer 3

a demyelinating problem

Question 4

do motor or sensory symptoms predominate in HSM 1?

Answer 4

motor

Question 5

is HSM 2 an axonal or myelinating pathology

Answer 5

axonal