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Charcot-Marie-Tooth disease type 4

ORPHA:64749

Definition

A group of autosomal recessive demyelinating Charcot-Marie-Tooth disease (CMT) characterized by progressive, distally accentuated weakness and atrophy of muscles innervated by the peroneal nerve in the lower limbs, followed by weakness and atrophy of hands, sensory loss, and characteristic foot abnormalities. CMT4 is usually more severe than other forms of CMT, and the onset occurs earlier.

Prevalence
1-5 / 10 000
Inheritance
Autosomal recessive
Age of onset
Childhood, Infancy