GNE myopathy

A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene

A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis.

Signs and symptoms

• Distal lower limb muscle weakness
• Elevated circulating creatine kinase activity
• Gait disturbance
• Distal amyotrophy
• Distal muscle weakness
• Deposits immunoreactive to beta-amyloid protein
• Rimmed vacuoles
• EMG: myopathic abnormalities

Also known as: Distal myopathy, Nonaka type; Hereditary Inclusion Body Myopathy; Nonaka myopathy; inclusion body myopathy 2