Hereditary neuralgic amyotrophy

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]

Yes. While, hereditary neuralgic amyotrophy primarily affects the nerves that control movement in the arms and shoulders called the brachial plexus; however, it can affect the lumbosacral plexus.^[4] Lumbosacral plexus neuropathy may cause pain in the thighs, hips, buttocks, or legs.^[5]

Hereditary neuralgic amyotrophy can also affect other nerve networks, including the phrenic nerve,^[4][5] laryngeal nerve,^[4][5] and other cranial nerves (rarely).^[4][5] Signs and symptoms of phrenic nerve involvement includes breathing difficulties, respiratory distress, and sleep disturbance.^[5] Signs and symptoms of laryngeal nerve involvement include hoarseness and a weak voice.^[5]

To be evaluated for hereditary neuralgic amyotrophy, we encourage you to speak with your healthcare provider regarding a referral to a genetics professional.

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.