Author/Authors :
MEHRABI, Atefeh School of Advanced Medical Sciences - Tehran Medical Branch - Islamic Azad University, Tehran , FARHUD, Dariush D Department of Basic Sciences/Ethics - Iranian Academy of Medical Sciences, Tehran , NAYERNIA, Karim International Center for Personalized Medicine (ICPM P7MEDICINE) - Medical Center Düsseldorf - Düsseldorf, Germany , SADIGHI, Hossein Farhud Genetic Clinic, Tehran , ZARIF-YEGANEH, Marjan Shahid Beheshti University of Medical Sciences, Tehran
Abstract :
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 char-acterized 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.
