Autosomal Recessive Distal Hereditary Motor Neuronopathy 8

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the SORD gene, encoding sorbitol dehydrogenase. It is characterized by distal muscle weakness mainly affecting the lower limbs.

**Synonyms:** - HMNR8 - SORDD - Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy