Hereditary Neuralgic Amyotrophy

National Organization for Rare Disorders, Inc.

Skip to the navigation

Important
It is possible that the main title of the report Hereditary Neuralgic Amyotrophy 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

  • hereditary brachial plexus neuropathy
  • HNA

Disorder Subdivisions

  • None

General Discussion

Summary

Hereditary neuralgic amyotrophy (HNA) is a rare genetic disorder characterized by recurrent episodes of severe pain in the shoulder and arm. In most cases, pain may persist for a few hours to a few weeks and is followed by wasting and weakness of the muscles (amyotrophy) in the affected areas. Additional symptoms including distinct facial features and skeletal abnormalities may also be present. HNA involves the brachial plexus, the interweaving network of nerves that extend from the spine through the neck, into each armpit and down the arms. These nerves control movements and sensations in the shoulders, arms, elbows, wrists and hands. They also control the opening and closing of small blood vessels in the skin, as in response to outside temperature. The number and frequency of episodes can vary greatly from one person to another. Approximately, 75% of affected individuals will have recurrent episodes. The severity of the disorder can also vary greatly due, in part, to the specific nerves involved. HNA may result in residual pain even between episodes and some individuals may develop significant disability to the shoulder and affected areas. In some cases, HNA is caused by mutations or duplications in the SEPT9 gene. The disorder is inherited in an autosomal dominant manner.

Supporting Organizations

Center for Peripheral Neuropathy

University of Chicago
5841 South Maryland Ave, MC 2030
Chicago, IL 60637
Tel: (773)702-5659
Fax: (773)702-5577
Website: 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
Website: http://www.foundationforpn.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
Website: http://rarediseases.info.nih.gov/GARD/

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
Website: 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
Website: http://www.neuropathy.org

Neuropathy Trust

PO Box 26
Nantwich
Cheshire, CW5 5FP
United Kingdom
Tel: 4401270611828
Email: info@neurocentre.com
Website: http://www.neurocentre.com

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:  12/13/1969
Copyright  2014 National Organization for Rare Disorders, Inc.