charcot-marie-tooth disease Flashcards
1
Q
what
A
inherited disease
affects peripheral motor and sensory nerves
dysfunction in myelin or axons
2
Q
most common inheritance patter
A
autosomal dominant
3
Q
when do symptoms usually starts
A
usually <10yrs
can be delayed to 40+
4
Q
classical features
A
- high foot arches
- distal muscle wasting = inverted champagne bottle legs
- weak lower legs esp ankle dorsiflexion
- weak hands
- reduced tendon reflexes
- reduced tone
- peripheral sensor y loss
5
Q
other causes of peripheral neuropathy
A
alcohol b12 defiency cancer and CKD diabetes, drugs (isoniazid, amiodarone) every vasculitis
6
Q
Mx
A
no rx to alter underlying disease
MDT
- neurologist
- geneticist
- physio
- OT
- orthopaedics
