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Hereditary Sensory Neuropathy Type I

Important

It is possible that the main title of the report Hereditary Sensory Neuropathy Type I is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

Disorder Subdivisions

  • None

General Discussion

Summary

Hereditary sensory neuropathy type I (HSN1) belongs to a group of similar but distinct genetic disorders characterized by abnormalities affecting the nerves, especially of those of the hands and feet. These degenerative disorders of the nervous system (neurodegenerative disorders) are slowly progressive and predominantly affect the sensory nerves, which frequently leads to loss of feeling (sensation) in the hands and feet. This sensory loss is due to abnormal functioning of the sensory nerves that control responses to pain and temperature and may also affect the autonomic nervous system that controls other involuntary or automatic body processes. Specific symptoms can vary widely from one person to another. HSN1 occurs due to mutations in specific genes and is inherited as an autosomal dominant trait. There are several subtypes of HSN1 designated A through E, each one associated with a different gene.



Introduction

The hereditary sensory neuropathies (HSNs), also known as the hereditary sensory and autonomic neuropathies, include at least six similar, but distinct inherited degenerative disorders of the nervous system (neurodegenerative) that frequently progress to loss of feeling, especially in the hands and feet. Some of these disorders have several subtypes based upon the specific associated genes. The classification of the HSNs is complicated, and the experts do not always agree on it. Furthermore, HSNs are classified more broadly as peripheral neuropathies or disorders of the peripheral nervous system, which encompasses all of the nerves outside of the central nervous system. NORD's Rare Disease Database has separate reports on HSN2, HSN3 (which is related to, or identical with familial dysautonomia), and HSN4.

Resources

NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

TDD: (301)468-5981

Internet: http://www.ninds.nih.gov/



Neuropathy Association

60 East 42nd Street

Suite 942

New York, NY 10165

USA

Tel: (212)692-0662

Fax: (212)692-0668

Email: info@neuropathy.org

Internet: http://www.neuropathy.org



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Center for Peripheral Neuropathy

University of Chicago

5841 South Maryland Ave, MC 2030

Chicago, IL 60637

Tel: (773)702-5659

Fax: (773)702-5577

Internet: http://peripheralneuropathycenter.uchicago.edu/



Foundation for Peripheral Neuropathy

485 Half Day Road

Suite 200

Buffalo Grove, IL 60089

Tel: (847)883-9942

Fax: (847)883-9960

Tel: (877)833-9942

Email: info@tffpn.org

Internet: http://www.foundationforpn.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 7/11/2014

Copyright 1991, 1999, 2004, 2014 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization for Rare Disorders
This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.Copyright 2011 National Organization for Rare Disorders, Inc.