Charcot-Marie-Tooth disease Flashcards
1
Q
What is Charcot Marie Tooth disease?
A
A inherited condition that affects peripheral motor and sensory neurones.
2
Q
At what age does Charcot Marie Tooth disease normally present?
A
Normally before 10 years old - however can be delayed
3
Q
What is the most common pattern of inheritance for Charcot Marie Tooth disease?
A
Autosomal dominant
4
Q
What are the clinical features of Charcot Marie Tooth disease?
A
- high foot arches - pes cavus
- distal muscle wasting - ‘ inverted champagne bottle legs)
- weakness in the lower legs - particularly loss of ankle dorsiflexion
- weakness in the hands
- reduced tendon reflexes
- reduced muscle tone
- peripheral neuro[athy
- unsteady gait with toe walking
5
Q
How is Charcot Marie Tooth disease managed?
A
Supportive management
- physiotherapy
- occupational therapy
- podiatrists
6
Q
What are some differentials for peripheral neuropathy?
A
A- alcohol
B - B12 deficiency
C - cancer, CKD, and Charcot Marie Tooth disease
D - diabetes and drugs (e.g. isoniazid, cisplatin, vincristine, amiodarone)
E- every vasculitis
