Charcot-Marie-Tooth Disease Flashcards
What is Charcot-Marie-Tooth Disease the most common form of?
Inherited peripheral neuropathy
What is another term for Charcot-Marie-Tooth disease?
Hereditary motor and sensory neuropathy (HMSN)
What is the most common gene mutation associated with Charcot-Marie-Tooth disease?
Autosomal dominant mutation in the peripheral myelin protein 22 gene (PMP22).
What mode of inheritance does Charcot-Marie-Tooth disease have?
Autotsomal dominant
Which nerve are affected in someone with Charcot-Marie-Tooth disase?
Peripheral motor and sensory nerves (predominently motor)
When do the symptoms of Charcot-Marie-Tooth disease usually present?
Before the age of 10 years but the onset of symptoms can be delayed until 40 or later.
What are the main presenting features of Charcot-Marie-Tooth disease?
Thickening and enlargement of the nerves themselves
Symmetrical distal muscular atrophy (champagne bottle legs, and claw hand)
Pes cavus (high-arched feet)
What are the main features of Charcot-Marie-Tooth disease?
High foot arches (pes cavus)
Distal muscle wasting causing “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 sensory loss
Where would you get weakness in someone with?
Weakness in the lower legs- loss of ankle dorsiflexion
Weakness in the hands
What would be reduced in someone with Charcot-Marie-Tooth disease?
Reduced tendon reflexes
Reduced muscle tone
Is there a cure for Charcot-Marie-Tooth disease?
No
How is Charcot-Marie-Tooth disease managed?
Physical and occupational therapy
How can Charcot-Marie-Tooth disease be diagnosed?
Nerve conduction studies and genetic testing
