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Genetic and Rare Diseases Information Center (GARD)

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Hereditary sensory neuropathy type 1


Other Names for this Disease

  • Hereditary sensory and autonomic neuropathy type 1
  • HSAN 1
  • HSN1
  • Neuropathy hereditary sensory and autonomic type 1
  • Neuropathy hereditary sensory radicular, autosomal dominant
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Overview

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 sensorineural hearing loss. Symptoms of HSN1 typically begin during a person's teens or twenties and worsen over time.[1] The condition may be caused by any of several genes, depending on the form of HSN1 a person has. For example, HSN type 1A is caused by mutations in the SPTLC1 gene.[2] 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.[1]
Last updated: 9/2/2014

References

  1. Hereditary sensory neuropathy type 1. Genetics Home Reference (GHR). December 2009; http://ghr.nlm.nih.gov/condition/hereditary-sensory-neuropathy-type-1. Accessed 6/2/2014.
  2. HEREDITARY SENSORY NEUROPATHY TYPE I. NORD. July 11, 2014; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/799/viewAbstract. Accessed 9/2/2014.
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Basic Information

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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.
Other Names for this Disease
  • Hereditary sensory and autonomic neuropathy type 1
  • HSAN 1
  • HSN1
  • Neuropathy hereditary sensory and autonomic type 1
  • Neuropathy hereditary sensory radicular, autosomal dominant
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.