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September 26, 2017; 89 (13) Article

High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2

James E. Hilbert, Richard J. Barohn, Paula R. Clemens, Elizabeth A. Luebbe, William B. Martens, Michael P. McDermott, Amy L. Parkhill, Rabi Tawil, Charles A. Thornton, Richard T. Moxley; On behalf of the National Registry Scientific Advisory Committee/Investigators
First published August 30, 2017, DOI: https://doi.org/10.1212/WNL.0000000000004420
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Abstract

Objective: To analyze gastrointestinal (GI) manifestations, their progression over time, and medications being used to treat GI symptoms in a large cohort of patients with myotonic dystrophy types 1 (DM1) and 2 (DM2).

Methods: We analyzed patient-reported data and medical records in a national registry cohort at baseline and 5 years.

Results: At baseline, the majority of patients reported trouble swallowing in DM1 (55%; n = 499 of 913) and constipation in DM2 (53%; n = 96 of 180). Cholecystectomy occurred in 16.5% of patients with DM1 and 12.8% of patients with DM2, on average before 45 years of age. The use of medications indicated for gastroesophageal reflux disease was reported by 22.5% of DM1 and 18.9% of patients with DM2. Greater risk of a GI manifestation was associated with higher body mass index and longer disease duration in DM1 and female sex in DM2. At the 5-year follow-up, the most common new manifestations were trouble swallowing in patients with DM1 and constipation in patients with DM2.

Conclusions: GI manifestations were common in both DM1 and DM2, with a relatively high frequency of gallbladder removal in DM1 and DM2 occurring at a younger age compared to normative data in the literature. Studies are needed to determine the pathomechanism of how sex, weight gain, and duration of disease contribute to GI manifestations and how these manifestations affect quality of life and clinical care for patients with DM1 and DM2.

GLOSSARY

BMI=
body mass index;
CI=
confidence interval;
CNBP=
CCHC-type zinc finger, nucleic acid binding protein;
DM=
myotonic dystrophy;
DMPK=
myotonic dystrophy protein kinase;
GERD=
gastroesophageal reflux disease;
GI=
gastrointestinal;
IBS=
irritable bowel syndrome;
IGF=
insulin-like growth factor;
OR=
odds ratio

Footnotes

  • Coinvestigators are listed at Neurology.org.

  • Go to Neurology.org for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

  • Supplemental data at Neurology.org

  • Received February 16, 2017.
  • Accepted in final form July 7, 2017.
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