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CMT2EE is caused by autosomal recessive mutations in the MPV17 gene. CMT2EE primarily affects the lower legs.
CMT2EE symptoms usually start to occur by the time the CMTer is 10 years old. A CMTer who has CMT2EE will usually experience lower leg weakness and atrophy resulting in foot deformities and difficulties with walking, accompanied by sensory loss.
CMT2EE is usually slowly progressive. In later disease course, the upper limbs can become affected. CMTers who have CMT2EE usually remain ambulatory throughout their life, but with the assistance of AFOs.
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