/autosomal dominant Charcot-Marie-Tooth disease type 2M

autosomal dominant Charcot-Marie-Tooth disease type 2M

Rare Disease

MONDO:0016431

Also Known As

CMT2M

Definition

A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital ptosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.