Charcot-Marie-Tooth disease type 1C

What it is

A rare, autosomal dominant, hereditary, demyelinating motor and sensory neuropathy which may present either as a classic Charcot-Marie-Tooth disease phenotype with distal motor weakness and wasting, gait difficulties, parethesias, decreased vibration and pain sensation, or as a milder, predominantly sensory form with transient paresthesias, decreased sensation and distal pain in upper or lower limbs, without significant motor weakness. Pes cavus is a common feature, and additional symptoms may include hand tremor and decreased or absent deep tendon reflexes.

Key facts

Prevalence

<1 / 1 000 000 (Europe)

Age of onset

Adolescent, Adult, Childhood

Inheritance

Autosomal dominant

Classified as

Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Gene

ICD-10 codes

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references