GNE Myopathy is a rare, inherited muscle disorder that causes progressive muscle weakness and muscle wasting. It typically begins in early adulthood and primarily affects the muscles of the lower legs, although other muscles become involved as the condition progresses. GNE myopathy generally does not affect the heart or breathing muscles.

• Cause: Mutations in the GNE gene cause GNE myopathy, an inherited disorder affecting muscle function; it is typically passed down in an autosomal recessive pattern.

• Features: Progressive muscle weakness, often beginning with the lower legs and causing foot drop, with relative preservation of the quadriceps muscles.

• Diagnosis: Diagnosed through clinical evaluation, muscle testing and imaging, and genetic testing to identify disease-causing GNE mutations.

• Treatment: There is currently no cure; treatment focuses on supportive care, physical and occupational therapy, mobility assistance, and participation in clinical trials evaluating potential therapies.