Congenital myopathy, Paradas type is a rare genetic disorder that affects the muscles. It is characterized by muscle weakness, hypotonia (low muscle tone), and contractures (permanent shortening of muscles). It is caused by a mutation in the GNE gene, which is responsible for the production of an enzyme called UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. This enzyme is important for the production of sialic acid, which is necessary for the proper functioning of muscles. Symptoms of this disorder usually appear in infancy or early childhood and can include difficulty with movement, muscle weakness, and contractures.