A Novel Charcot-Marie-Tooth Subtype

Charcot-Marie-Tooth (CMT) disease is one of the most common inherited peripheral neuropathies. CMT encompasses a genetically heterogeneous group of motor and sensory neuropathies characterized by slowly progressive foot deformities (pes cavus), weakness and sensory loss starting in the legs, and reduced deep tendon reflexes. Identified in 2020, CMT sorbitol dehydrogenase deficiency (CMT-SORD) is caused by the neurotoxic accumulation of sorbitol and is likely the most common recessive CMT subtype. In this cross-sectional observational study, researchers evaluated the clinical and genetic phenotypes of 144 CMT-SORD patients (age range, 15–75 years; 69% male) from 126 families of various ethnicities.