Charcot-Marie-Tooth Disease, Type 4D (NDRG1)
Charcot-Marie-Tooth disease, type 4D is an autosomal recessive disorder that is caused by pathogenic variants in the NDRG1 gene. Due to a founder mutation, it is especially prevalent in individuals of Roma ancestry. Patients with this form of Charcot-Marie-Tooth disease often have deformities of the feet and progressive loss of sensory and motor nerves beginning in the first decade of life. Patients with this disease also develop sensorineural deafness in the third decade. There have been no reports of decreased life expectancy. It is not currently possible to predict the severity of the disease based on the genotype.
For information about carrier frequency and residual risk, please see the Expanded Carrier Screen brochure.