Myotonic dystrophy: Treatment and prognosis
- Basil T Darras, MD
Basil T Darras, MD
- Professor of Neurology
- Harvard Medical School
- David A Chad, MD
David A Chad, MD
- Associate Professor of Neurology
- Harvard Medical School
- Section Editors
- Jeremy M Shefner, MD, PhD
Jeremy M Shefner, MD, PhD
- Section Editor — Neuromuscular Disease
- Professor and Chair of Neurology, Barrow Neurological Institute
- Professor of Neurology, University of Arizona, Phoenix
- Clinical Professor of Neurology, Creighton University
- Douglas R Nordli, Jr, MD
Douglas R Nordli, Jr, MD
- Section Editor — Pediatric Neurology
- Chief of Neurology
- Children’s Hospital Los Angeles
- Vice Chair of Neurology
- USC Keck School of Medicine
- Stephanie B Jones, MD
Stephanie B Jones, MD
- Editor-in-Chief — Anesthesiology
- Section Editor — Anesthesia with Comorbid Non-Cardiopulmonary Conditions
- Associate Professor of Anesthesia
- Harvard Medical School
Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are autosomal dominant, multisystem disorders characterized by skeletal muscle weakness and myotonia, cardiac conduction abnormalities, iridescent cataracts, and other abnormalities.
The management and prognosis of patients with myotonic dystrophy will be reviewed here. Other aspects of myotonic dystrophy are discussed separately. (See "Myotonic dystrophy: Etiology, clinical features, and diagnosis".)
The genetics, clinical features, and diagnosis of myotonic dystrophy are reviewed here briefly and discussed in detail elsewhere. (See "Myotonic dystrophy: Etiology, clinical features, and diagnosis".)
DM1 results from an expansion of a CTG trinucleotide repeat in the 3'-untranslated region of the DMPK gene. DM2 is caused by an expansion of a CCTG tetranucleotide repeat located in intron 1 of the ZNF9 (CNBP) gene. (See "Myotonic dystrophy: Etiology, clinical features, and diagnosis", section on 'Genetics'.)
The diagnosis of myotonic dystrophy can usually be made clinically in a patient with the characteristic presentation and a positive family history. Genetic testing for an expanded CTG repeat in the DMPK gene is the gold standard for confirming the diagnosis of DM1. Testing for the CCTG repeat in the ZNF9 (CNBP) gene is appropriate if DM1 testing is negative. (See "Myotonic dystrophy: Etiology, clinical features, and diagnosis", section on 'Diagnosis'.)To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:
- Harper PS. Myotonic Dystrophy, 3rd ed, WB Saunders, London 2001.
- Moxley RT 3rd. Carrell-Krusen Symposium Invited Lecture-1997. Myotonic disorders in childhood: diagnosis and treatment. J Child Neurol 1997; 12:116.
- Keller C, Reynolds A, Lee B, Garcia-Prats J. Congenital myotonic dystrophy requiring prolonged endotracheal and noninvasive assisted ventilation: not a uniformly fatal condition. Pediatrics 1998; 101:704.
- Ho G, Cardamone M, Farrar M. Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions. World J Clin Pediatr 2015; 4:66.
- Gagnon C, Noreau L, Moxley RT, et al. Towards an integrative approach to the management of myotonic dystrophy type 1. J Neurol Neurosurg Psychiatry 2007; 78:800.
- Lindeman E, Leffers P, Spaans F, et al. Strength training in patients with myotonic dystrophy and hereditary motor and sensory neuropathy: a randomized clinical trial. Arch Phys Med Rehabil 1995; 76:612.
- Kierkegaard M, Harms-Ringdahl K, Edström L, et al. Feasibility and effects of a physical exercise programme in adults with myotonic dystrophy type 1: a randomized controlled pilot study. J Rehabil Med 2011; 43:695.
- Voet NB, van der Kooi EL, Riphagen II, et al. Strength training and aerobic exercise training for muscle disease. Cochrane Database Syst Rev 2013; :CD003907.
- Orngreen MC, Olsen DB, Vissing J. Aerobic training in patients with myotonic dystrophy type 1. Ann Neurol 2005; 57:754.
- Bassez G, Lazarus A, Desguerre I, et al. Severe cardiac arrhythmias in young patients with myotonic dystrophy type 1. Neurology 2004; 63:1939.
- Dalton JC, Ranum LPW, Day JW. Myotonic dystrophy type 2. GeneReviews. www.ncbi.nlm.nih.gov/books/NBK1466/ (Accessed on October 17, 2016).
- Logigian EL, Martens WB, Moxley RT 4th, et al. Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1. Neurology 2010; 74:1441.
- Kurihara T. New classification and treatment for myotonic disorders. Intern Med 2005; 44:1027.
- Udd B, Krahe R. The myotonic dystrophies: molecular, clinical, and therapeutic challenges. Lancet Neurol 2012; 11:891.
- Trip J, Drost G, van Engelen BG, Faber CG. Drug treatment for myotonia. Cochrane Database Syst Rev 2006; :CD004762.
- Feingold B, Mahle WT, Auerbach S, et al. Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association. Circulation 2017; 136:e200.
- Wahbi K, Meune C, Porcher R, et al. Electrophysiological study with prophylactic pacing and survival in adults with myotonic dystrophy and conduction system disease. JAMA 2012; 307:1292.
- Culebras A. Sleep and neuromuscular disorders. Neurol Clin 2005; 23:1209.
- Bianchi ML, Losurdo A, Di Blasi C, et al. Prevalence and clinical correlates of sleep disordered breathing in myotonic dystrophy types 1 and 2. Sleep Breath 2014; 18:579.
- Lam EM, Shepard PW, St Louis EK, et al. Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2. Neurology 2013; 81:157.
- Annane D, Moore DH, Barnes PR, Miller RG. Psychostimulants for hypersomnia (excessive daytime sleepiness) in myotonic dystrophy. Cochrane Database Syst Rev 2006; :CD003218.
- MacDonald JR, Hill JD, Tarnopolsky MA. Modafinil reduces excessive somnolence and enhances mood in patients with myotonic dystrophy. Neurology 2002; 59:1876.
- Talbot K, Stradling J, Crosby J, Hilton-Jones D. Reduction in excess daytime sleepiness by modafinil in patients with myotonic dystrophy. Neuromuscul Disord 2003; 13:357.
- Antonini G, Morino S, Fiorelli M, et al. Selegiline in the treatment of hypersomnolence in myotonic dystrophy: a pilot study. J Neurol Sci 1997; 147:167.
- Puymirat J, Bouchard JP, Mathieu J. Efficacy and tolerability of a 20-mg dose of methylphenidate for the treatment of daytime sleepiness in adult patients with myotonic dystrophy type 1: a 2-center, randomized, double-blind, placebo-controlled, 3-week crossover trial. Clin Ther 2012; 34:1103.
- Day JW, Ricker K, Jacobsen JF, et al. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology 2003; 60:657.
- Sartoretti C, Sartoretti S, DeLorenzi D, Buchmann P. Intestinal non-rotation and pseudoobstruction in myotonic dystrophy: case report and review of the literature. Int J Colorectal Dis 1996; 11:10.
- Sjögreen L, Tulinius M, Kiliaridis S, Lohmander A. The effect of lip strengthening exercises in children and adolescents with myotonic dystrophy type 1. Int J Pediatr Otorhinolaryngol 2010; 74:1126.
- Mudge BJ, Taylor PB, Vanderspek AF. Perioperative hazards in myotonic dystrophy. Anaesthesia 1980; 35:492.
- Aldridge LM. Anaesthetic problems in myotonic dystrophy. A case report and review of the Aberdeen experience comprising 48 general anaesthetics in a further 16 patients. Br J Anaesth 1985; 57:1119.
- Moore JK, Moore AP. Postoperative complications of dystrophia myotonica. Anaesthesia 1987; 42:529.
- Anderson BJ, Brown TC. Congenital myotonic dystrophy in children--a review of ten years' experience. Anaesth Intensive Care 1989; 17:320.
- Mathieu J, Allard P, Gobeil G, et al. Anesthetic and surgical complications in 219 cases of myotonic dystrophy. Neurology 1997; 49:1646.
- Rosenbaum HK, Miller JD. Malignant hyperthermia and myotonic disorders. Anesthesiol Clin North America 2002; 20:623.
- Imison AR. Anaesthesia and myotonia--an Australian experience. Anaesth Intensive Care 2001; 29:34.
- Aquilina A, Groves J. A combined technique utilising regional anaesthesia and target-controlled sedation in a patient with myotonic dystrophy. Anaesthesia 2002; 57:385.
- Russell SH, Hirsch NP. Anaesthesia and myotonia. Br J Anaesth 1994; 72:210.
- Klompe L, Lancé M, van der Woerd D, et al. Anaesthesiological and ventilatory precautions during cardiac surgery in Steinert's disease. J Card Surg 2007; 22:74.
- Thiel RE. The myotonic response to suxamethonium. Br J Anaesth 1967; 39:815.
- PATERSON IS. Generalized myotonia following suxamethonium. A case report. Br J Anaesth 1962; 34:340.
- Buzello W, Krieg N, Schlickewei A. Hazards of neostigmine in patients with neuromuscular disorders. Report of two cases. Br J Anaesth 1982; 54:529.
- Ferschl M, Moxley R, Day JW, Gropper M. Practical suggestions for the anesthetic management of a myotonic dystrophy patient. Myotonic Dystrophy Foundation. www.myotonic.org/sites/default/files/MDF_LongForm_AnesGuidelines_01C.pdf (Accessed on October 20, 2016).
- Kirzinger L, Schmidt A, Kornblum C, et al. Side effects of anesthesia in DM2 as compared to DM1: a comparative retrospective study. Eur J Neurol 2010; 17:842.
- Bird TD. Myotonic dystrophy type 1. GeneReviews. www.ncbi.nlm.nih.gov/books/NBK1165/ (Accessed on October 18, 2016).
- Martorell L, Cobo AM, Baiget M, et al. Prenatal diagnosis in myotonic dystrophy type 1. Thirteen years of experience: implications for reproductive counselling in DM1 families. Prenat Diagn 2007; 27:68.
- Rakocević-Stojanović V, Savić D, Pavlović S, et al. Intergenerational changes of CTG repeat depending on the sex of the transmitting parent in myotonic dystrophy type 1. Eur J Neurol 2005; 12:236.
- Salehi LB, Bonifazi E, Stasio ED, et al. Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients. Genet Test 2007; 11:84.
- Thornton CA. Myotonic dystrophy. Neurol Clin 2014; 32:705.
- Turner C, Hilton-Jones D. Myotonic dystrophy: diagnosis, management and new therapies. Curr Opin Neurol 2014; 27:599.
- Redman JB, Fenwick RG Jr, Fu YH, et al. Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring. JAMA 1993; 269:1960.
- Mathieu J, Allard P, Potvin L, et al. A 10-year study of mortality in a cohort of patients with myotonic dystrophy. Neurology 1999; 52:1658.
- de Die-Smulders CE, Höweler CJ, Thijs C, et al. Age and causes of death in adult-onset myotonic dystrophy. Brain 1998; 121 ( Pt 8):1557.
- Reardon W, Newcombe R, Fenton I, et al. The natural history of congenital myotonic dystrophy: mortality and long term clinical aspects. Arch Dis Child 1993; 68:177.
- Groh WJ, Groh MR, Saha C, et al. Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1. N Engl J Med 2008; 358:2688.
- Mörner S, Lindqvist P, Mellberg C, et al. Profound cardiac conduction delay predicts mortality in myotonic dystrophy type 1. J Intern Med 2010; 268:59.
- Nazarian S, Wagner KR, Caffo BS, Tomaselli GF. Clinical predictors of conduction disease progression in type I myotonic muscular dystrophy. Pacing Clin Electrophysiol 2011; 34:171.
- MANAGEMENT AND DM PHENOTYPE
- Congenital DM1
- Childhood DM1
- Classic DM1
- Mild DM1
- SPECIFIC MANAGEMENT ISSUES
- Muscle involvement
- - Exercise training
- - Muscle pain
- - Myotonia
- Cardiac disturbances
- Respiratory function and sleep
- Excessive daytime sleepiness
- Dysphagia and nutrition
- Risk of anesthesia
- Risk of statins
- Genetic counseling
- Genetic testing
- LIFE EXPECTANCY
- INFORMATION FOR PATIENTS
- SUMMARY AND RECOMMENDATIONS