GNE myopathy is a condition that primarily affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes muscle weakness that appears in late adolescence or early adulthood and worsens over time.

Many different variants (also called mutations) in the GNE gene have been found to cause GNE myopathy. The GNE gene provides instructions for making an enzyme found in cells and tissues throughout the body. This enzyme is involved in a chemical pathway that produces sialic acid, which is a simple sugar that attaches to the ends of more complex molecules on the surface of cells. By modifying these molecules, sialic acid influences a wide variety of cellular functions, including cell movement (migration), the attachment of cells to one another (adhesion), signaling between cells, and inflammation.

Worldwide, fewer than 9 in 1,000,000 people are estimated to have this condition. Some researchers have suggested that the number of people with GNE myopathy may be higher, since many people with this condition are believed to be undiagnosed. GNE myopathy is more frequent among the Japanese, Iranian Jewish, and Indian subcontinent populations.

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.

Published Date: March 06, 2024
Published By: National Institutes of Health