Tehran University of Medical Sciences Iranian Journal of Public Health 2251-6085 49 3 2020 03 03 588 592 Atefeh MEHRABI School of Advanced Medical Sciences, Tehran Medical Branch, Islamic Azad University, Tehran, Iran Farhud Genetic Clinic, Tehran, Iran Dariush D. FARHUD 1. Farhud Genetic Clinic, Tehran, Iran 2. Department of Basic Sciences/Ethics, Iranian Academy of Medical Sciences, Tehran, Iran Karim NAYERNIA International Center for Personalized Medicine (ICPM P7MEDICINE), Medical Center Düsseldorf, Düsseldorf, Germany Hossein SADIGHI Farhud Genetic Clinic, Tehran, Iran Marjan ZARIF-YEGANEH Farhud Genetic Clinic, Tehran, Iran AND Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran 2020 03 03 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. https://ijph.tums.ac.ir/index.php/ijph/article/view/19922 https://ijph.tums.ac.ir/index.php/ijph/article/download/19922/6710