Synonyms

• HSAN1
• Neuropathy, Hereditary Sensory and Autonomic, Type I HSAN1
• Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant

Disorder Subdivisions

• None

General Discussion

The hereditary sensory neuropathies (HSN) include 4-6 similar but distinct inherited, degenerative disorders of the nervous system (neurodegenerative) that frequently progress to loss of feeling, especially in the hands and feet. The classification of the hereditary sensory neuropathies is complicated, and the experts do not always agree. This report deals with HSN type I. There is a separate report in NORD’s Rare Disease Database dealing with HSN type II. One other type of hereditary sensory neuropathy, HSN-III, is related to, or identical with, familial dysautonomia (Riley-Day syndrome). Another type, HSN-IV, is related to, or identical with, a form of Charcot-Marie-Tooth disorder.

Hereditary sensory neuropathy Type I (HSN1) is a rare genetic disorder characterized by the loss of sensation (sensory loss), especially in the feet and legs and, less severely, in the hands and forearms. The 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.

The disorder is inherited as an autosomal dominant trait, and the mutated gene has been identified and tracked to a site on chromosome 9.

HSNs of various types may attack a single nerve (mononeuropathy) or many nerves simultaneously (polyneuropathy). The resulting symptoms may involve sensory, motor, reflex, or blood vessel (vasomotor) functions.

Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda, MD 20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: http://www.ninds.nih.gov/

Jack Miller Center for Peripheral Neuropathy
University of Chicago
5841 S. Maryland Ave, MC 2030
Chicago, IL 60637
Tel: (773)702-5800
Fax: (773)702-5577
Email: information-millercenter@neurology.bsd.uchicago.edu
Internet: http://millercenter.uchicago.edu

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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:  8/17/2007
Copyright  1991, 1999, 2004, 2007National Organization for Rare Disorders, Inc.