Charcot-Marie-Tooth disease Flashcards
1
Q
What is the usual pattern of inheritance?
A
Autosomal dominant
2
Q
When do symptoms usually start to appear?
A
Before 10
But can be delayed until 40 or later
3
Q
What are the classical features?
A
High foot arches - per cavus
Distal muscle wasting
Lower leg weakness
Weakness in the hands
Reduced reflexes
Reduced muscle tone
Peripheral sensory loss
4
Q
What is it?
A
Inherited disease affecting the peripheral motor and sensory neurones
5
Q
What are causes of peripheral neuropathy?
A
ABCDE
A alcohol
B B12 deficiency
C - cancer or CKD
D - diabetes and drugs
E - every vasculitis
6
Q
What is the management?
A
Supportive
Physios
Occupational therapists
Podiatrists
Orthopaedics for severe joint deformity
