Neuropathy, Hereditary Sensory, Type I
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Neuropathy, Hereditary Sensory, 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.
- Neuropathy, Hereditary Sensory and Autonomic, Type I HSAN1
- Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant
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.
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda, MD 20824
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Jack Miller Center for Peripheral Neuropathy
University of Chicago
5841 South Maryland Ave, MC 2030
Chicago, IL 60637
For a Complete Report
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