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Survival patterns and cancer determinants in families with myotonic dystrophy type 1

Lookup NU author(s): Lindsay Wood, Dr Nikoletta Nikolenko, Dr Chiara Marini Bettolo, Professor Hanns Lochmuller


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© 2018 EAN. This article has been contributed to by US Government employees and their work is in the public domain in the USA Background and purpose: Research indicates that patients with myotonic dystrophy type 1 (DM1) are at increased risk of cancer and early death. Family data may provide insights given DM1 phenotypic heterogeneity, the broad range of non-muscular manifestations and the usual delays in the diagnosis of DM1. Method: Family history data were collected from 397 genetically and/or clinically confirmed DM1 patients (respondents) enrolled in the US or UK myotonic dystrophy registries. Standardized mortality ratios were calculated for DM1 first-degree relatives (parents, siblings and offspring) by their reported DM1 status (affected, unaffected or unknown). For cancer-related analyses, mixed effects logistic regression models were used to evaluate factors associated with cancer development in DM1 families, including familial clustering. Results: A total of 467 deaths and 337 cancers were reported amongst 1737 first-degree DM1 relatives. Mortality risk amongst relatives reported as DM1-unaffected was comparable to that of the general population [standardized mortality ratio (SMR) 0.82, P = 0.06], whilst significantly higher mortality risks were noted in DM1-affected relatives (SMR = 2.47, P < 0.0001) and in those whose DM1 status was unknown (SMR = 1.60, P < 0.0001). In cancer risk analyses, risk was higher amongst families in which the DM1 respondent had cancer (odds ratio 1.95, P = 0.0001). Unknown DM1 status in the siblings (odds ratio 2.59, P = 0.004) was associated with higher cancer risk. Conclusion: There is an increased risk of death, and probably cancer, in relatives with DM1 and in those whose DM1 status is unknown. This suggests a need to perform a careful history and physical examination, supplemented by genetic testing, to identify family members at risk for DM1 and who might benefit from disease-specific clinical care and surveillance.

Publication metadata

Author(s): Best AF, Hilbert JE, Wood L, Martens WB, Nikolenko N, Marini-Bettolo C, Lochmuller H, Rosenberg PS, Moxley RT, Greene MH, Gadalla SM

Publication type: Article

Publication status: Published

Journal: European Journal of Neurology

Year: 2018

Volume: 26

Issue: 1

Pages: 58-65

Print publication date: 01/01/2019

Online publication date: 27/07/2018

Acceptance date: 21/06/2018

ISSN (print): 1351-5101

ISSN (electronic): 1468-1331

Publisher: Blackwell Publishing Ltd


DOI: 10.1111/ene.13763


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