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Survival and CTG repeat expansion in adults with myotonic dystrophy type 1
Author(s) -
Groh William J.,
Groh Miriam R.,
Shen Changyu,
Monckton Darren G.,
Bodkin Cynthia L.,
Pascuzzi Robert M.
Publication year - 2011
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21934
Subject(s) - myotonic dystrophy , trinucleotide repeat expansion , medicine , myotonia , physical medicine and rehabilitation , genetics , audiology , pediatrics , biology , gene , allele
An association is observed between the severity of myotonic dystrophy type 1 (DM1) and the genetic abnormality of cytosine–thymine–guanine (CTG) repeat expansion. It is unknown whether an association exists between survival and CTG repeat expansion. Methods: In an adult 406‐patient DM1 cohort, the phenotype, including survival age, was evaluated in relation to CTG repeat expansion. Results: At study entry, age was 42 ± 12 (range 18–78) years, with a CTG repeat length of 629 ± 386 (range 54–1965). An inverse correlation was observed between CTG repeat length and the age at onset and younger DM1 phenotype. Over a follow‐up of 9.2 ± 3.1 years, 118 (29.1%) patients died, including 60 of neuromuscular respiratory failure, 41 of cardiac causes, and 17 of non‐neuromuscular, non‐cardiac causes. There was an inverse relationship between all‐cause survival and CTG length (relative risk 5.4 per log repeat, 95% confidence interval 2.9–10.2, P < 0.001). Conclusion: The data demonstrate a genotype–mortality association in DM1. Muscle Nerve, 2011