Journal of Electrodiagnosis and Neuromuscular Diseases (대한근전도전기진단의학회지)

Korean Association of EMG Electrodiagnostic Medicine (대한근전도전기진단의학회)
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Charcot-Marie-Tooth Disease Type 1A Diagnosed Based on Abnormalities in a Nerve Conduction Study in a Patient with Myotonic Dystrophy Type 1: A Case Report

신경전도검사의 이상소견을 보이는 근긴장디스트로피 환자에서 진단된 1형 샤르코-마리-투스 병: 증례보고

  • Lee, Hyung Nam (Department of Physical Medicine and Rehabilitation, Chonbuk National University Medical School, Research Institute of Clinbical Medicine of Chonbuk National University - Biomedical Research Institute of Chonbuk National University Hospital) ;
  • Won, Yu Hui (Department of Physical Medicine and Rehabilitation, Chonbuk National University Medical School, Research Institute of Clinbical Medicine of Chonbuk National University - Biomedical Research Institute of Chonbuk National University Hospital)
  • 이형남 (전북대학교병원 재활의학과) ;
  • 원유희 (전북대학교병원 재활의학과)
  • Received : 2018.06.25
  • Accepted : 2018.08.11
  • Published : 2018.12.31
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Abstract

Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disorder and one of the most common muscular dystrophies affecting adults. Charcot-Marie-Tooth (CMT) disease, a common hereditary neuropathy, is characterized by atrophy of the distal limbs and peripheral nerve abnormalities. The authors report a rare case involving a 24-year-old female who was diagnosed simultaneously with both DM1 and CMT1A based on the results of a nerve conduction study (NCS). The patient, who had previously been diagnosed with DM1, was admitted for lower extremity pain. Her electrodiagnostic examination continued to reveal severe sensorimotor demyelinating polyneuropathy, and a genetic study was performed to confirm whether she had other hereditary neuropathies, except DM1, that suggested CMT1A, the most common phenotype of CMT. Severe abnormalities in an NCS in a DM1 patient may suggest the incidental coexistence of hereditary neuropathies, and further evaluations, such as genetic studies, should be performed for proper diagnosis.

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References

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