Preferred Label : Autosomal recessive Charcot-Marie-Tooth disease with hoarseness;
ICD-11 definition : 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.;
Origin ID : 2037351188;
Currated CISMeF NLP mapping
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.
