Report of a Patient with Multiple Mutations Leading to Charcot-Marie-Tooth Disease and Distal Spinal Muscular Atrophy: A Case Report

The charcot-marie-tooth disease is a group of progressive disorders that affects the peripheral nerves and results in loss of sensation and atrophy of muscles in lower limbs. there are several types of charcot-marie-tooth and multiple genes are associated with this disease. distal spinal muscular atrophy is an extremely rare disorder characterized by progressive pure lower motor neuron involvement. a 24 yr old woman using wheelchair referred to farhud genetic clinic, tehran, iran in 2019, with progressive muscular atrophy, pain and electromyography test suggesting charcot-marie-tooth. both feet and hands were involved. whole exome sequencing was performed on extracted dna from her blood sample. we report the first case of a patient with different types of charcot-marie-tooth and distal spinal muscular atrophy simultaneously, which are as a result of mutations in multiple genes; this case is very uncommon.