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