Thelansis

 Sorbitol dehydrogenase deficiency (SORD Deficiency) is a progressive hereditary neuropathy that significantly impacts peripheral nerves and motor neurons, leading to considerable disability, sensory loss, and reduced mobility. Consequently, intracellular sorbitol accumulates, and this molecular alteration has been identified as the underlying cause of the disease in a specific subgroup of patients previously diagnosed with Charcot-Marie-Tooth disease (CMT2) or distal hereditary motor neuropathy (dHMN). A subtype of Charcot-Marie-Tooth disease (CMT) is caused by a mutated SORD gene, which encodes for sorbitol dehydrogenase. The mutated gene results in elevated levels of sorbitol, leading to axonal damage in the peripheral nerves. Individuals with SORD Deficiency experience a progressive form of neuropathy, typically commencing in late adolescence. This condition can substantially impede the individual's quality of life, presenting symptoms such as limb weakness, foot deformities, t...