Catalog

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

No MMS code

Link to WHO Definition

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness – http://id.who.int/icd/entity/2037351188

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy, with onset in the neonatal period or early infancy with a clinical picture similar to that seen in CMT4A (another autosomal recessive form of CMT4 but with a demyelinating phenotype) including hypotonia, scoliosis, a hoarse voice, vocal cord paralysis and respiratory insufficiency.