A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with symmetric weakness primarily occurring in the lower limbs and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. Presents with gait anomaly between the first and sixth decade and early onset is generally associated to a more severe phenotype that may include foot drop.
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No extended properties.
Concept Alternate Designations
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Concept Designation Description
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Designation Type
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Code Flag
3316639019
Autosomal dominant Charcot-Marie-Tooth disease type 2F