Hereditary sensory neuropathy type 1
Other Names for this Disease
- HSAN 1
- Neuropathy hereditary sensory radicular, autosomal dominant
- Neuropathy hereditary sensory and autonomic type 1
- Hereditary sensory and autonomic neuropathy type 1
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sensorineural hearing loss. Symptoms of HSN1 typically begin during a person's teens or twenties and worsen over time. HSN1 is caused by mutations in any of several genes, depending on the form of HSN1 (HSN1A is caused by mutations in the SPTLC1 gene; HSN1B is linked to a gene located in chromosome 3; HSN1C is caused by mutations in the SPTLC2 gene; HSN1D is caused by mutations in the ATL1 gene and HSN1E is caused by mutations in DNMT1 gene. All forms of HSN1 are inherited in an autosomal dominant manner. If symptoms are treated properly, the condition does not appear to affect life expectancy.Hereditary sensory neuropathy type 1 (HSN1) is a neurological condition characterized by nerve abnormalities in the legs and feet. Many people with this condition have tingling, weakness, and a reduced ability to feel pain and sense hot and cold. Some affected people do not lose sensation, but instead feel shooting pains in their legs and feet. As HSN1 progresses, sensory problems can affect the hands, arms, shoulders, and abdomen. In rare cases, people with this condition develop
Last updated: 4/8/2016
- Hereditary sensory neuropathy type 1. Genetics Home Reference (GHR). March, 2015; http://ghr.nlm.nih.gov/condition/hereditary-sensory-neuropathy-type-1.
- Hereditary sensory neuropathy type I. NORD. July 11, 2014; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/799/viewAbstract.
- Cruse RP. Hereditary sensory and autonomic neuropathies. UpToDate. October 2015;
- Genetics Home Reference (GHR) contains information on Hereditary sensory neuropathy type 1. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Hereditary sensory neuropathy type 1. Click on the link to view a sample search on this topic.