Case Report

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.

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IssueVol 49 No 3 (2020) QRcode
SectionCase Report(s)
Charcot-marie-tooth Distal spinal muscular atrophy; Neuropathy

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How to Cite
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. 2020;49(3):588-592.