National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Hereditary neuralgic amyotrophy


Other Names:
Brachial plexus neuropathy, hereditary; Amyotrophy, hereditary neuralgic, with predilection for brachial plexus; Hereditary brachial plexus neuropathy; Brachial plexus neuropathy, hereditary; Amyotrophy, hereditary neuralgic, with predilection for brachial plexus; Hereditary brachial plexus neuropathy; Neuritis with brachial predilection See More
Categories:
Hereditary neuralgic amyotrophy is a type of nervous system disease that affects the group of nerves that control movement in the arms and shoulders called the brachial plexus. Signs and symptoms usually begin around 20 years of age and may include episodes of severe pain and muscle loss  in one or both shoulders and arms. These symptoms may last for a few hours to a few weeks. Complications such as decreased sensation, abnormal sensations (e.g., numbness and tingling), chronic pain, and impaired movement may develop overtime. Attacks may occur by chance or may be triggered (e.g., by exercise, childbirth, surgery, infection etc.). Individuals in some families with this condition sometimes share additional distinct physical and facial characteristics.[1][2] Hereditary neuralgic amyotrophy can be caused by mutations in the SEPT9 gene. Mutations in the SEPT9 gene are inherited in an autosomal dominant manner.[1][3] Treatment for this condition is typically focused on pain management.[3][2]
Last updated: 7/12/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Hyporeflexia
Decreased reflex response
Decreased reflexes
[ more ] 		0001265
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Axonal degeneration 0040078
Blepharophimosis
Narrow opening between the eyelids
0000581
Brachial plexus neuropathy 0045054
Cleft palate
Cleft roof of mouth
0000175
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye
[ more ] 		0000490
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] 		0005280
Epicanthus
Eye folds
Prominent eye folds
[ more ] 		0000286
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] 		0000324
Hypotelorism
Abnormally close eyes
Closely spaced eyes
[ more ] 		0000601
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Muscle weakness
Muscular weakness
0001324
Narrow mouth
Small mouth
0000160
Peripheral axonal degeneration 0000764
Peripheral neuropathy 0009830
Ptosis
Drooping upper eyelid
0000508
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ] 		0003202
Upslanted palpebral fissure
Upward slanting of the opening between the eyelids
0000582
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • 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.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. 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 Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a 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. 
  • 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I believe I have hereditary neuralgic amyotrophy. Can this condition affect the legs? I am having an attack in my right leg which seems to be very similar to what I have had in my shoulders and arms for 20 years. See answer


  1. Hereditary neuralgic amyotrophy. Genetics Home Reference. September 2009; http://ghr.nlm.nih.gov/condition/hereditary-neuralgic-amyotrophy.
  2. van Alfen N. Hereditary Neuralgic Amyotrophy. National Organization for Rare Disorders (NORD). 2017; https://rarediseases.org/rare-diseases/hereditary-neuralgic-amyotrophy/.
  3. Nigel L Ashworth. Brachial Neuritis. Medscape Reference. January 18, 2017; http://emedicine.medscape.com/article/315811-overview.