Hereditary sensory and autonomic neuropathy type 5

What it is

A rare congenital sensory neuropathy characterized by selective or generalized loss of pain perception and impaired temperature sensitivity, in the absence of other abnormal neurological function. Patients present with variable severity of insensibility to pain and temperature. Self-mutilation of the lips, tongue, and fingers, painless injuries resulting in cuts, bruises, fractures, destroyed joints (Charcot joints) mostly in the knees and and feet are frequentyly observed. Patients have normal motor and sensory nerve conduction. Nerve biopsy typically manifest with reduced/absent small myelinated fibers whereas unmyelinated fibers are usually not affected. Episodic increase in body temperature, skin blotching, decreased sweating, poor wound healing, infections in teeth, joints and bone, neurotrophic keratitis, prematurely aged appearance, with malar hypoplasia, sunken eyes are reported in few patients. Mild intellectual disability may also be present.

Key facts

Prevalence

<1 / 1 000 000 (Europe)

Age of onset

Infancy, Neonatal

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.

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.

Genes

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