Survival and CTG repeat expansion in adults with myotonic dystrophy type 1

Groh, W.J., Groh, M.R., Shen, C., Monckton, D.G. , Bodkin, C.L. and Pascuzzi, R.M. (2011) Survival and CTG repeat expansion in adults with myotonic dystrophy type 1. Muscle and Nerve, 43(5), pp. 648-651. (doi: 10.1002/mus.21934)

Abstract

<p>Introduction: 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.</p> <p>Methods: In an adult 406-patient DM1 cohort, the phenotype, including survival age, was evaluated in relation to CTG repeat expansion.</p> <p>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).</p> <p>Conclusion: The data demonstrate a genotype–mortality association in DM1.</p>

• Item Type: Articles
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Monckton, Professor Darren
• Authors: Groh, W.J., Groh, M.R., Shen, C., Monckton, D.G., Bodkin, C.L., and Pascuzzi, R.M.
• College/School: College of Medical Veterinary and Life Sciences > School of Molecular Biosciences
• Journal Name: Muscle and Nerve
• ISSN: 0148-639X
• Published Online: 11 April 2011