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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
  • View Affiliations / Copyright

    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
    Copyright: © Li et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 1104-1108
    |
    Published online on: June 12, 2017
       https://doi.org/10.3892/etm.2017.4579
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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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1 

Glaser AM, Johnston JH, Gleason WA and Rhoads JM: Myotonic dystrophy as a cause of colonicpseudoobstruction: Not just another constipated child. Clin Case Rep. 3:424–426. 2015. View Article : Google Scholar : PubMed/NCBI

2 

Finsterer J, Karpatova A, Rauschka H, Loewe-Grgurin M, Frank M and Gencik M: Myotonic dystrophy 2 manifesting with non-alcoholic and non-hepatitic liver cirrhosis. Acta Clin Belg. 70:432–435. 2015. View Article : Google Scholar : PubMed/NCBI

3 

Omond KJ and Byard RW: Forensic considerations in cases of myotonic dystrophy at autopsy. J Forensic Sci. Feb 7–2017.(Epub ahead of print). View Article : Google Scholar

4 

Tschuppert S and Gerding H: Myotonic dystrophy with reticular maculopathy as first ocular symptom. Klin Monbl Augenheilkd. 232:568–569. 2015. View Article : Google Scholar : PubMed/NCBI

5 

Finsterer J and Rudnik-Schöneborn S: Myotonic dystrophies: Clinical presentation, pathogenesis, diagnostics and therapy. Fortschr Neurol Psychiatr. 83:9–17. 2015.(In German). View Article : Google Scholar : PubMed/NCBI

6 

Thornton CA: Myotonic dystrophy. Neurol Clin. 32705–719. (viii)2014. View Article : Google Scholar : PubMed/NCBI

7 

Mathieu J, Allard P, Potvin L, Prévost C and Bégin P: A 10-year study of mortality in a cohort of patients with myotonic dystrophy. Neurology. 52:1658–1662. 1999. View Article : Google Scholar : PubMed/NCBI

8 

Smith CA and Gutmann L: Myotonic dystrophy type 1 management and therapeutics. Curr Treat Options Neurol. 18:522016. View Article : Google Scholar : PubMed/NCBI

9 

Arandel L, Espinoza M Polay, Matloka M, Bazinet A, De Dea Diniz D, Naouar N, Rau F, Jollet A, Edom-Vovard F, Mamchaoui K, et al: Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds. Dis Model Mech. 10:487–497. 2017. View Article : Google Scholar : PubMed/NCBI

10 

Joyce NC, Oskarsson B and Jin LW: Muscle biopsy evaluation in neuromuscular disorders. Phys Med Rehabil Clin N Am. 23:609–631. 2012. View Article : Google Scholar : PubMed/NCBI

11 

Zhang SH, Zhu L, Wu ZH, Zhang Y, Tang GQ, Jiang YZ, Li MZ, Bai L and Li XW: Effect of muscle-fiber type on glycogenin-1 gene expression and its relationship with the glycolytic potential and pH of pork. Genet Mol Res. 12:3383–3390. 2013. View Article : Google Scholar : PubMed/NCBI

12 

Kamsteeg EJ, Kress W, Catalli C, Hertz JM, Witsch-Baumgartner M, Buckley MF, van Engelen BG, Schwartz M and Scheffer H: Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2. Eur J Hum Gene. 20:1203–1208. 2012. View Article : Google Scholar

13 

Wissocque L, Brigadeau F, Richardson M, Boulé S, Kouakam C, Polge AS, Marquié C and Klug D: Impairment of global and regional longitudinal strains in patients with myotonic dystrophy type 1. Int J Cardiol. 191:46–47. 2015. View Article : Google Scholar : PubMed/NCBI

14 

Gallais B, Montreuil M, Gargiulo M, Eymard B, Gagnon C and Laberge L: Prevalence and correlates of apathy in myotonic dystrophy type 1. BMC Neurol. 15:1482015. View Article : Google Scholar : PubMed/NCBI

15 

Gladman JT, Mandal M, Srinivasan V and Mahadevan MS: Age of onset of RNA toxicity influences phenotypic severity: Evidence from an inducible mouse model of myotonic dystrophy (DM1). PLoS One. 8:e729072013. View Article : Google Scholar : PubMed/NCBI

16 

Santoro M, Masciullo M, Silvestri G, Novelli G and Botta A: Myotonic dystrophy type 1: Role of CCG CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis. Clin Genet. Dec 19–2016.(Epub ahead of print).

17 

Lee JE, Bennett CF and Cooper TA: RNase H-mediated degradation of toxic RNA in myotonic dystrophy type 1. Proc Natl Acad Sci USA. 109:pp. 4221–4226. 2012; View Article : Google Scholar : PubMed/NCBI

18 

Meola G and Cardani R: Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms. Biochim Biophys Acta. 1852:594–606. 2015. View Article : Google Scholar : PubMed/NCBI

19 

De Antonio M, Dogan C, Hamroun D, Mati M, Zerrouki S, Eymard B, Katsahian S and Bassez G: French Myotonic Dystrophy Clinical Network: Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification. Rev Neurol (Paris). 172:572–580. 2016. View Article : Google Scholar : PubMed/NCBI

20 

Gagnon C, Kierkegaard M, Blackburn C, Chrestian N, Lavoie M, Bouchard MF and Mathieu J: Participation restriction in childhood phenotype of myotonic dystrophy type 1: A systematic retrospective chart review. Dev Med Child Neurol. 59:291–296. 2017. View Article : Google Scholar : PubMed/NCBI

21 

Udd B and Krahe R: The myotonic dystrophies: Molecular, clinical, and therapeutic challenges. Lancet Neurol. 11:891–905. 2012. View Article : Google Scholar : PubMed/NCBI

22 

Turner C and Hilton-Jones D: Myotonic dystrophy: Diagnosis, management and new therapies. Curr Opin Neurol. 27:599–606. 2014. View Article : Google Scholar : PubMed/NCBI

23 

Groh WJ, Groh MR, Saha C, Kincaid JC, Simmons Z, Ciafaloni E, Pourmand R, Otten RF, Bhakta D, Nair GV, et al: Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1. N Engl J Med. 358:2688–2697. 2008. View Article : Google Scholar : PubMed/NCBI

24 

Meola G and Sansone V: Cerebral involvement in myotonic dystrophies. Muscle Nerve. 36:294–306. 2007. View Article : Google Scholar : PubMed/NCBI

25 

Kornblum C, Reul J, Kress W, Grothe C, Amanatidis N, Klockgether T and Schröder R: Cranial magnetic resonance imaging in genetically proven myotonic dystrophy type 1 and 2. J Neurol. 251:710–714. 2004. View Article : Google Scholar : PubMed/NCBI

26 

Liu L, Liu HM, Liu ZJ, Zhang LW, Gu WH and Wang RB: Myotonic dystrophy type 1 associated with white matter hyperintense lesions: Clinic, imaging, and genetic analysis. Chin Med J (Engl). 128:1412–1414. 2015. View Article : Google Scholar : PubMed/NCBI

27 

Minnerop M, Weber B, Schoene-Bake JC, Roeske S, Mirbach S, Anspach C, Schneider-Gold C, Betz RC, Helmstaedter C, Tittgemeyer M, et al: The brain in myotonic dystrophy 1 and 2: Evidence for a predominant white matter disease. Brain. 134:3530–3546. 2011. View Article : Google Scholar : PubMed/NCBI

28 

Portaro S, Altamura C, Licata N, Camerino GM, Imbrici P, Musumeci O, Rodolico C, Camerino D Conte, Toscano A and Desaphy JF: Clinical, Molecular, and functional characterization of CLCN1 mutations in three families with recessive myotonia congenita. Neuromolecular Med. 17:285–296. 2015. View Article : Google Scholar : PubMed/NCBI

29 

Lakraj AA, Miller G, Vortmeyer AO, Khokhar B, Nowak RJ and DiCapua DB: Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports. Yale J Biol Med. 86:101–106. 2013.PubMed/NCBI

30 

Kurihara T: New classification and treatment for myotonic disorders. Intern Med. 44:1027–1032. 2005. View Article : Google Scholar : PubMed/NCBI

31 

Sechi GP, Traccis S, Durelli L, Monaco F and Mutani R: Carbamazepine versus diphenylhydantoin in the treatment of myotonia. Eur Neurol. 22:113–118. 1983. View Article : Google Scholar : PubMed/NCBI

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Copy and paste a formatted citation
Spandidos Publications style
Li C, Zhang X, Zhou C, Zhu L, Liu K and Fang S: Dystrophia myotonica type 1 presenting with dysarthria: A case report and literature review. Exp Ther Med 14: 1104-1108, 2017.
APA
Li, C., Zhang, X., Zhou, C., Zhu, L., Liu, K., & Fang, S. (2017). Dystrophia myotonica type 1 presenting with dysarthria: A case report and literature review. Experimental and Therapeutic Medicine, 14, 1104-1108. https://doi.org/10.3892/etm.2017.4579
MLA
Li, C., Zhang, X., Zhou, C., Zhu, L., Liu, K., Fang, S."Dystrophia myotonica type 1 presenting with dysarthria: A case report and literature review". Experimental and Therapeutic Medicine 14.2 (2017): 1104-1108.
Chicago
Li, C., Zhang, X., Zhou, C., Zhu, L., Liu, K., Fang, S."Dystrophia myotonica type 1 presenting with dysarthria: A case report and literature review". Experimental and Therapeutic Medicine 14, no. 2 (2017): 1104-1108. https://doi.org/10.3892/etm.2017.4579
Copy and paste a formatted citation
x
Spandidos Publications style
Li C, Zhang X, Zhou C, Zhu L, Liu K and Fang S: Dystrophia myotonica type 1 presenting with dysarthria: A case report and literature review. Exp Ther Med 14: 1104-1108, 2017.
APA
Li, C., Zhang, X., Zhou, C., Zhu, L., Liu, K., & Fang, S. (2017). Dystrophia myotonica type 1 presenting with dysarthria: A case report and literature review. Experimental and Therapeutic Medicine, 14, 1104-1108. https://doi.org/10.3892/etm.2017.4579
MLA
Li, C., Zhang, X., Zhou, C., Zhu, L., Liu, K., Fang, S."Dystrophia myotonica type 1 presenting with dysarthria: A case report and literature review". Experimental and Therapeutic Medicine 14.2 (2017): 1104-1108.
Chicago
Li, C., Zhang, X., Zhou, C., Zhu, L., Liu, K., Fang, S."Dystrophia myotonica type 1 presenting with dysarthria: A case report and literature review". Experimental and Therapeutic Medicine 14, no. 2 (2017): 1104-1108. https://doi.org/10.3892/etm.2017.4579
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