The DOI matches its Crossref record; 39 of the 39 references it cites were found in a registry or an index.
High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2
Open accessAbstract
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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“Gastrointestinal manifestations are common in myotonic dystrophy types 1 and 2, with high reported frequencies of constipation, diarrhea, abdominal pain, and dysphagia (Hilbert et al., 2017).”
From Autonomic nervous system and gastrointestinal manifestations with an emphasis on gastric dysfunction (2026) · cites this paper as Hilbert et al., 2017
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Brook, J. D., McCurrach, M. E., Harley, H. G., Buckler, A., Church, D. M., Aburatani, H., Hunter, K. W., Stanton, V. P., Thirion, J., Hudson, T. J., et al. (1992) · Cell · doi:10.1016/0092-8674(92)90154-5 · Cited by 2,754
Update on the epidemiology of gastro-oesophageal reflux disease: a systematic review
El‐Serag, H. B., Sweet, S., Winchester, C., & Dent, J. (2013) · Gut · doi:10.1136/gutjnl-2012-304269 · Cited by 1,934
Myotonic Dystrophy Mutation: an Unstable CTG Repeat in the 3′ Untranslated region of the Gene
Mahadevan, M. S., Tsilfidis, C., Sabourin, L. A., Shutler, G., Amemiya, C. T., Jansen, G., Neville, C., Narang, M. A., Barceló, J. M., O'Hoy, K., et al. (1992) · Science · doi:10.1126/science.1546325 · Cited by 1,656
An Unstable Triplet Repeat in a Gene Related to Myotonic Muscular Dystrophy
Fu, Y., Pizzuti, A., Fenwick, R. G., King, J., Rajnarayan, S., Dunne, P. W., Dubel, J., Nasser, G. A., Ashizawa, T., de Jong, P., et al. (1992) · Science · doi:10.1126/science.1546326 · Cited by 1,453
Self-citationMyotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9
Liquori, C. L., Ricker, K., Moseley, M. L., Jacobsen, J. F., Kreß, W., Naylor, S. L., Day, J., & Ranum, L. P. W. (2001) · Science · doi:10.1126/science.1062125 · Cited by 1,254
Self-citationThe Burden of Gastrointestinal and Liver Diseases, 2006
Shaheen, N. J., Hansen, R. A., Morgan, D. R., Gangarosa, L. M., Ringel, Y., Thiny, M. T., Russo, M. W., & Sandler, R. S. (2006) · The American Journal of Gastroenterology · doi:10.1111/j.1572-0241.2006.00723.x · Cited by 694
Mitochondria: A central target for sex differences in pathologies
Ventura-Clapier, R., Moulin, M., Piquereau, J., Lemaire, C., Mericskay, M., Veksler, V., & Garnier, A. (2017) · Clinical Science · doi:10.1042/cs20160485 · Cited by 371
Genetic mapping of a second myotonic dystrophy locus
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Self-citationCurrent Trends in the Management of Gastroesophageal Reflux Disease
Sandhu, D. S., & Fass, R. (2017) · Gut and Liver · doi:10.5009/gnl16615 · Cited by 218
Adverse Effects Associated With Proton Pump Inhibitors
Schoenfeld, A. J., & Grady, D. G. (2016) · JAMA Internal Medicine · doi:10.1001/jamainternmed.2015.7927 · Cited by 214
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van den Bersselaar, L. R., Heytens, L., da Silva, H. C. A., Reimann, J., Tasca, G. A., Díaz‐Cambronero, Ó., Løkken, N., Hellblom, A., Hopkins, P. M., Rueffert, H., et al. (2022) · European Journal of Neurology · doi:10.1111/ene.15526 · Cited by 70
Consensus-based care recommendations for adults with myotonic dystrophy type 2
Schoser, B. G. H., Montagnese, F., Bassez, G., Fossati, B., Gámez, J., Heatwole, C. R., Hilbert, J. E., Kornblum, C., Kostera‐Pruszczyk, A., Krahe, R., et al. (2019) · Neurology Clinical Practice · doi:10.1212/cpj.0000000000000645 · Cited by 67
Self-citationAssessing the influence of age and gender on the phenotype of myotonic dystrophy type 2
Montagnese, F., Mondello, S., Wenninger, S., Kreß, W., & Schoser, B. G. H. (2017) · Journal of Neurology · doi:10.1007/s00415-017-8653-2 · Cited by 57
Myotonic Dystrophies: Targeting Therapies for Multisystem Disease
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Metadata
- Authors
- Hilbert, J. E., Barohn, R. J., Clemens, P. R., Luebbe, E. A., Martens, W. B., McDermott, M. P., Parkhill, A. L., Tawil, R., Thornton, C. A., Moxley, R. T., National Registry Scientific Advisory Committee/Investigators, Ashizawa, T., Barohn, R. J., Clemens, P. R., Conneally, P. M., Day, J. W., Figlewicz, D. A., Jackson, J. M., Kissel, J. T., Lord, S., Mathews, K. D., Sanders, D. B., & Tapscott, S. J.
- Affiliations
- University of Pittsburgh (US)
- ORCID
- Venue
- Neurology
- Published
- 2017-09-26
- Volume
- 89
- Issue
- 13
- Pages
- 1348-1354
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- PMC
- PMC5649763
- OpenAlex
- W2753249033
- Cited by
- 70
- References
- 39
- Citations by year
- 2026: 6 · 2025: 9 · 2024: 9 · 2023: 6 · 2022: 7 · 2021: 8 · 2020: 7 · 2019: 10 · 2018: 7 · 2017: 1
- FWCI
- 3.35
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Neurology (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Fisher Digital Publications (St. John Fisher College) (submittedVersion)
- Funders
- National Institutes of Health (5u54ns048843-12)
- Medical Center, University of Rochester
- National Institute of Neurological Disorders and Stroke (U54‐NS048843)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Health Sciences › Medicine › Gastroenterology › Gastrointestinal motility and disorders
- Health Sciences › Medicine › Clinical Neurology › Deep Brain Stimulation and Movement Disorders
- Keywords
- myotonic dystrophy type 1, myotonic dystrophy type 2, gastrointestinal manifestations, dysphagia, constipation, cholecystectomy, gastroesophageal reflux disease, body mass index, disease duration, sex differences, disease progression
- MeSH terms
- Age Factors, Cholecystectomy, Female, Follow-Up Studies, Gastrointestinal Diseases, Humans, Male, Middle Aged, Myotonic Dystrophy, Registries, Risk Factors, Sex Factors, Disease Progression
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- Hilbert, J. E., Barohn, R. J., Clemens, P. R., Luebbe, E. A., Martens, W. B., McDermott, M. P., Parkhill, A. L., Tawil, R., Thornton, C. A., Moxley, R. T., National Registry Scientific Advisory Committee/Investigators, Ashizawa, T., Barohn, R. J., Clemens, P. R., Conneally, P. M., Day, J. W., Figlewicz, D. A., Jackson, J. M., Kissel, J. T., . . . Tapscott, S. J. (2017). High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2. Neurology. https://doi.org/10.1212/wnl.0000000000004420
