Charcot-Marie-Tooth disease type 4B3

What it is

A form of Charcot-Marie-Tooth disease type 4 characterized by a childhood onset of slowly progressing, demyelinating or axonal sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and absence of deep tendon reflexes). In some patients microcephaly, intellectual disability, and multiple cranial neuropathies have been described.

Key facts

Prevalence

<1 / 1 000 000

Age of onset

Childhood

Inheritance

Autosomal recessive

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