HSN1A (the most common form) is associated with mutations in the SPTLC1 gene
HSN1B, reported in a small number of families, is linked to a specific location on chromosome 3, but the exact gene has not yet been identified
HSN1C is caused by mutations in the SPTLC2 gene
The Genetic Testing Registry (GTR) provides information about genetic testing for HSN1A. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Although the genes for some other types of HSN1 have been identified, we are not aware of clinical laboratories that offer genetic testing for them. A genetics professional may be able to help you locate laboratories that offer testing for other types of HSN1.If the genetic mutation in an affected person has been identified, testing for adult relatives at risk for developing symptoms may be possible. This is called predictive genetic testing. However, this testing is not useful in predicting age of onset, severity, type of symptoms, or rate of progression in people who currently don't have symptoms.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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I have been diagnosed with HSAN type 1. My daughter is showing probable signs of the same. I have 2 sons that are not showing these same signs. Is it possible for my sons to be carriers of this condition and pass the mutation on to their children? Are there any resources for good information on this disease? I will do everything possible to help my children and grandchildren understand this condition. My doctor does not feel genetic testing is necessary due to the huge expense and great possibility of having a false negative outcome. Should I continue with this in your opinion? See answer
Is there a cure for hereditary sensory neuropathy type 1 (HSAN1)? See answer