Dystrophia myotonica type 1 presenting with dysarthria: A case report and literature review

Li,Chunrong; Zhang,Xiaoling; Zhou,Chunkui; Zhu,Lijun; Liu,Kangding; Fang,Shaokuan

doi:10.3892/etm.2017.4579

Dystrophia myotonica type 1 presenting with dysarthria: A case report and literature review

Authors:
- Chunrong Li
- Xiaoling Zhang
- Chunkui Zhou
- Lijun Zhu
- Kangding Liu
- Shaokuan Fang
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Affiliations: Department of Neurology, Neuroscience Centre, The First Teaching Hospital of Jilin University, Changchun, Jilin 130012, P.R. China, Department of Neurology, The Third Teaching Hospital of Jilin University, Changchun, Jilin 130021, P.R. China
Published online on: June 12, 2017 https://doi.org/10.3892/etm.2017.4579
Pages: 1104-1108
Copyright: © Li et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Dystrophia myotonica (DM) type 1 is an autosomal dominant disorder, caused by a trinucleotide CTG repeat expansion in the 3' untranslated region of the dystrophia myotonica protein kinase (DMPK) gene (chromosome 19q13.3). The disorder affects different organ systems, including the skeletal muscles, ocular lens, lungs, heart and gastrointestinal tract, as well as the endocrine and central nervous systems. The skeletal muscles are most frequently involved, whereby the disorder manifests as myotonia, muscle weakness and amyotrophy. However, DM type 1 presenting with dysarthria is rare. The current study presents a case of a 28‑year‑old male with DM type 1 presenting with dysarthria and associated multifocal hyperintense lesions in the white matter. Although electromyogram measurements identified myotonic discharges in all extremities, a muscle biopsy failed to detect the characteristic pathological features of DM type 1. A lack of a positive family history for DM type 1 also obscured diagnosis. However, genetic analysis detected a single allele in the P12 segment of the DMPK gene that included a CTG expansion of 13 repeats and a three‑base gradient fragment in the P134 segment that included a CTG expansion of >600 repeats. According to the characteristics of dysarthria, multifocal hyperintense lesions in the white matter, electromyogram measurement results and genetic testing results, a diagnosis of DM type 1 was confirmed.

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