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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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Your 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.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is hereditary neuralgic amyotrophy?

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

Can hereditary neuralgic amyotrophy affect the legs?

Yes. While, hereditary neuralgic amyotrophy primarily affects the brachial plexus, it can affect the lumbosacral plexus.[2][3] Lumbosacral plexus neuropathy may cause pain in the thighs, hips, buttocks, or legs.

Hereditary neuralgic amyotrophy can also affect other nerve networks, including the phrenic nerve,[2][3] laryngeal nerve,[2][3] and other cranial nerves (rarely).[2][3] Signs and symptoms of phrenic nerve involvement includes breathing difficulties, respiratory distress, and sleep disturbance.[3] Signs and symptoms of laryngeal nerve involvement include hoarseness and a weak voice.[3]

To be evaluated for hereditary neuralgic amyotrophy, we encourage you to speak with your healthcare provider regarding a referral to a genetic professional.
Last updated: 5/11/2011

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 10/18/2013