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. 2017 Sep 26;89(13):1348-1354.
doi: 10.1212/WNL.0000000000004420. Epub 2017 Aug 30.

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

James E Hilbert  1 , Richard J Barohn  2 , Paula R Clemens  2 , Elizabeth A Luebbe  2 , William B Martens  2 , Michael P McDermott  2 , Amy L Parkhill  2 , Rabi Tawil  2 , Charles A Thornton  2 , Richard T Moxley 3rd; National Registry Scientific Advisory Committee/Investigators
Collaborators, Affiliations

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

James E Hilbert et al. Neurology. .

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.

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Figures

Figure 1
Figure 1. Percentages of patients with DM1 and DM2 who reported GI manifestations at enrollment in the registry
Percentages are from totals of the baseline cohort of 913 patients with DM1 and 180 with DM2. DM = myotonic dystrophy; GI = gastrointestinal. *Significant difference between the DM1 and DM2 baseline cohorts (p < 0.001).
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