This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
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.[3444][13567] Hereditary neuralgic amyotrophy can be caused by mutations in the SEPT9 gene. Mutations in the SEPT9 gene are inherited in an autosomal dominant manner.[3444][8150] Treatment for this condition is typically focused on pain management.[8150][13567]
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