Charcot-Marie-Tooth Disease
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Introduction
An inherited polyneuropathy with sensory and motor effects
prevalence of 40/100,000
The Case of...
a simple case introducing clincial presentation and calling for a differential diagnosis. To get students thinking.
Causes and Risk Factors
- inherited, with dominant, recessive, and X linked forms
- family history is not always obvious
Pathophysiology
Signs and Symptoms
degree of manifestations is highly variable
- pes cavus - a high arch and cocked up toes
- champagne glass legs - distal weakness
- foot drop at a young age
- history
- physical exam
History
Physical Exam
Investigations
- lab investigations
- diagnostic imaging
Lab Investigations
Diagnostic Imaging
Differential Diagnosis
Treatments
Consequences and Course
The Case of...
Case #2 - a small story wrapping it all up and asking about esp management.
Additional Resources
Topic Development
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