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

  • Atefeh MEHRABI School of Advanced Medical Sciences, Tehran Medical Branch, Islamic Azad University, Tehran, Iran Farhud Genetic Clinic, Tehran, Iran
  • Dariush D. FARHUD Mail 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 1. Farhud Genetic Clinic, Tehran, Iran 2. Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Keywords:
Charcot-marie-tooth, Distal spinal muscular atrophy;, Neuropathy

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 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.

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Published
2020-03-03
How to Cite
1.
MEHRABI A, FARHUD DD, NAYERNIA K, SADIGHI H, ZARIF-YEGANEH M. Report of a Patient with Multiple Mutations Leading to Charcot-Marie-Tooth Disease and Distal Spinal Muscular Atrophy: A Case Report. Iran J Public Health. 49(3):588-592.
Section
Case Report(s)