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. 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.
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. METHODS: In an adult 406-patientDM1 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%) patientsdied, 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.
Authors: Maya Das; Richard T Moxley; James E Hilbert; William B Martens; Lisa Letren; Mark H Greene; Shahinaz M Gadalla Journal: J Neurol Date: 2012-05-23 Impact factor: 4.849
Authors: Agathi-Vasiliki Goula; Christopher E Pearson; Julie Della Maria; Yvon Trottier; Alan E Tomkinson; David M Wilson; Karine Merienne Journal: Biochemistry Date: 2012-04-23 Impact factor: 3.162
Authors: Hannah M Kersten; Richard H Roxburgh; Nicholas Child; Philip J Polkinghorne; Chris Frampton; Helen V Danesh-Meyer Journal: J Neurol Date: 2013-10-17 Impact factor: 4.849
Authors: Bettine A H Vosse; Charlotte Seijger; Nicolle Cobben; Baziel van Engelen; Sander M J van Kuijk; Catharina Faber; Peter Wijkstra Journal: Respiration Date: 2021-05-07 Impact factor: 3.580