Hereditary sensory and autonomic neuropathy

Other Names: 

HSAN

Summary

Hereditary sensory autonomic neuropathy (HSAN) is a group of rare peripheral neuropathies where neurons and/or axons are affected. The major feature of these conditions is the loss of large myelinated and unmyelinated fibers. Myelin is an insulating layer, or sheath that forms around nerves, made up of protein and fatty substances, that allows electrical impulses to transmit along the nerve cells. If myelin is damaged, these impulses slow down. Symptoms of HSAN include diminished sensation of pain and its associated consequences of delayed healing, Charcot arthopathies, infections, osteomyelitis, and amputations. They have been categorized into types one through five, although some children do not fit well into this classification and do not all have altered pain sensation and/or autonomic function. HSAN type I is the most common form of HSAN. It is caused by a genetic change in the SPTLC1 gene and inherited in an autosomal dominant pattern. HSAN type 2 is caused by genetic changes in the WNK1 gene and inheritance is autosomal recessive . HSAN type 3 (Riley-Day syndrome or familial dysautonomia) is caused by genetic changes in the IKBKAP gene and inheritance is autosomal recessive. HSAN type 4, also called congenital insensitivity to pain with anhidrosis (CIPA), is caused by genetic changes in the NTRK1 gene and is an autosomal recessive disorder. HSAN type 5 is caused by genetic changes in the NGFB gene and inherited in an autosomal recessive manner.

About Hereditary sensory and autonomic neuropathy

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

• Population Estimate:This section is currently indevelopment.
• Symptoms:This section is currently in development.
• Cause:This disease is caused by a change in the genetic material (DNA).
• Organizations:Patient organizations are available to help find a specialist, or advocacy and support for this specific disease.
• Categories:Genetic DiseasesNeurological Diseases

Genetic Mutations

Hereditary sensory and autonomic neuropathy is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from sunlight exposure, or a combination of any of these. Learn more about genetic diseases from the National Library of Medicine (NLM).

If you suspect you may have this disease, you may want to start collecting your family health history. Information such as other family members who have had similar symptoms, when their/your symptoms first appeared, or exposures to any potential disease-causing environmental factors should be discussed with your medical team. This tool from the Surgeon General can help you collect your family health history.

When Do Symptoms of Hereditary sensory and autonomic neuropathy Begin?

This section is currently in development.