Hereditary Neuralgic Amyotrophy
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Hereditary Neuralgic Amyotrophy is not the name you expected.
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.
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
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Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
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- 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/
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For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Last Updated: 4/21/2014
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