X-linked Charcot-Marie-Tooth disease type 6

What it is

A type of rare X-linked Charcot-Marie-Tooth disease characterized by slowly progressive, principally axonal, peripheral sensorimotor neuropathy. Patients present with distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus and clawed toes), absent ankle reflexes, gait abnormalities (steppage gait, decreased hand grip strength and dexterity with variable severity. Males are typically more severely affected than carrier females (some reported to remain asymptomatic) and usually present with an earlier age of onset (within the first 13 years of life).

Key facts

Prevalence

<1 / 1 000 000

Age of onset

Childhood

Inheritance

X-linked 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.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

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