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Genetic and Rare Diseases Information Center (GARD)

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Hereditary neuralgic amyotrophy


Other Names for this Disease

  • Amyotrophy, hereditary neuralgic, with predilection for brachial plexus
  • Brachial plexus neuropathy, hereditary
  • Hereditary brachial plexus neuropathy
  • Neuritis with brachial predilection
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Overview

Hereditary neuralgic amyotrophy is a type of nervous system disease that affects the brachial plexus. Common signs and symptoms include episodes of severe pain and muscle wasting in one or both shoulders and arms.  Attacks may be spontaneous or triggered (e.g., by exercise, childbirth, surgery, infection etc.).  Secondary complications, such as decreased sensation, abnormal sensations (e.g., numbness and tingling), chronic pain, and impaired movement may develop overtime. Affected members in some families may share additional distinct physical and facial characteristics. Hereditary neuralgic amyotrophy can be caused by mutations in the SEPT9 gene.  It is inherited in an autosomal dominant fashion.[1]
Last updated: 5/18/2011

References

  1. Hereditary neuralgic amyotrophy. Genetics Home Reference. 2009; http://ghr.nlm.nih.gov/condition/hereditary-neuralgic-amyotrophy. Accessed 5/11/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Hereditary neuralgic amyotrophy. This website is maintained by the National Library of Medicine.
  • The MerckManual online reference Web site provides information on plexus disorders in general. Click on MerckManual to view the information page.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hereditary neuralgic amyotrophy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Amyotrophy, hereditary neuralgic, with predilection for brachial plexus
  • Brachial plexus neuropathy, hereditary
  • Hereditary brachial plexus neuropathy
  • Neuritis with brachial predilection
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.