Hereditary neuralgic amyotrophy is a disorder characterized by episodes of severe pain and muscle wasting (amyotrophy) in one or both shoulders and arms. Pain is felt along the path of one or more nerves (neuralgia) and often has no obvious physical cause. The network of nerves involved in hereditary neuralgic amyotrophy, called the brachial plexus, controls movement and sensation in the shoulders and arms.

Variants (also called mutations) in the SEPTIN9 gene cause hereditary neuralgic amyotrophy. The SEPTIN9 gene provides instructions for making a protein called septin-9, which belongs to a group of proteins called septins. Septins are involved in a process called cytokinesis, which is the step in cell division when the fluid inside the cell (cytoplasm) divides to form two separate cells.

Hereditary neuralgic amyotrophy is a rare disorder, but its specific prevalence is unknown.

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Published Date: August 20, 2024
Published By: National Institutes of Health