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CMT2N is caused by autosomal dominant mutations in the AARS1 gene. CMT2N is an exceedingly rare type of CMT.
CMT2N age at symptom onset is widely variable, occurring anywhere between about 6 years old and the CMTer’s mid-50s.
CMTers who have CMT2N usually experience weakness, atrophy, and sensory loss in the lower legs/ankles/feet, and then slowly progressing to include the hands. CMTers who have CMT2N can also experience sensorineural hearing loss that is mild to moderate in the high frequency range.
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