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Positive correlation of CTG expansion and pharyngoesophageal alterations in myotonic dystrophy patients

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Abstract

Alteration of the pharyngoesophageal musculature is a common finding in patients with myotonic dystrophy (MD), regardless of the presence of dysphagia. The aim of the present study was to determine whether a specific pattern of swallowing abnormalities could be identified in MD patients, and the possible correlation with the size of CTG repeats. Fifteen MD patients, 8 of whom were asymptomatic for dysphagia, underwent a videofluoroscopic study of swallowing. Alterations of the pharyngoesophageal phase of swallowing were detected in 12 of 15 patients, 6 without clinical evidence of dysphagia. Incomplete relaxation of the upper esophageal sphincter (UES) and esophageal hypotonia were the most common alterations. We found a significant correlation between the number of radiological alterations and the size of CTG repeats. A typical radiological pattern of swallowing has also been identified. The role of videofluoroscopy in evaluation of MD patients is briefly discussed.

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Authors and Affiliations

  1. Department of Neurology, University of Padua, Via Giustiniani 5, I-35128, Padova, Italy

    M. Marcon, C. Briani, M. Ermani, E. Menegazzo & C. Angelini

  2. Department of Radiology, University of Padova, Padova, Italy

    V. Iurilli & G. P. Feltrin

  3. Department of Genetics, University of Roma Tor Vegata, Roma, Italy

    G. Novelli & M. Gennarelli

Authors
  1. M. Marcon
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  2. C. Briani
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  3. M. Ermani
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  4. E. Menegazzo
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  5. V. Iurilli
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  6. G. P. Feltrin
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  7. G. Novelli
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  8. M. Gennarelli
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  9. C. Angelini
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This paper was supported by the grant n. 1061 from Theleton

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Marcon, M., Briani, C., Ermani, M. et al. Positive correlation of CTG expansion and pharyngoesophageal alterations in myotonic dystrophy patients. Ital J Neuro Sci 19, 75–80 (1998). https://doi.org/10.1007/BF02427560

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  • DOI: https://doi.org/10.1007/BF02427560

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