Charcot Marie Tooth Disease Flashcards
What is another term for Charcot Marie tooth disease?
Hereditary sensorimotor neuropathy
What is Charcot Marie tooth disease?
It is defined as an inherited condition, in which there is dysfunction of the myelin or axons in peripheral neurones – resulting in peripheral neuropathy
There are various classifications, with different genetic mutations and different pathophysiology
In most cases what is the inheritance of Charcot Marie tooth disease?
Autosomal dominant
What is the most common inherited peripheral neuropathy?
Charcot Marie tooth disease
What are the two main classifications of Charcot Marie tooth disease?
Charcot Marie Tooth Disease Type I
Charcot Marie Tooth Disease Type II
What is the inheritance of Charcot Marie tooth disease type I?
Autosomal dominant
What is the pathology of Charcot Marie tooth disease type I?
There is a mutation of the PMP-22 gene, which results in demyelinating pathology of peripheral neurones
When does Charcot Marie tooth disease type I tend to present?
Puberty
What is the inheritance of Charcot Marie tooth disease type II?
Autosomal dominant
What is the pathophysiology of Charcot Marie tooth disease type II?
There is a mutation of the PMP-22 gene, which results in an axonal pathology of peripheral neurones
When does Charcot Marie tooth disease type II tend to present?
Puberty
What are the five risk factors of Charcot Marie tooth disease?
ABCDE
Alcohol
Vitamin B12 Deficiency
Cancer/Chronic Kidney Disease
Diabetes/Drug Administration
Every Vasculitis
Which three drugs are associated with Charcot Marie tooth disease?
Isoniazid
Amiodarone
Cisplatin
What are the nine clinical features of Charcot Marie tooth disease?
Pes Cavus
Foot Drop
Hammer Toes
Stork Leg Deformity
Peripheral Sensory Loss
Distal Muscle Weakness
Distal Muscle Atrophy
High-Stepping Gait
Hyporeflexia
What is pes cavus?
It is defined as high foot arches
