Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8 (HMNR8)

Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8, also known as sorbitol dehydrogenase deficiency with peripheral neuropathy, is related to cataract and peripheral nervous system disease. An important gene associated with Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8 is SORD (Sorbitol Dehydrogenase). Related phenotypes are increased serum sorbitol concentration and distal lower limb muscle weakness