Myotonic dystrophy: From bench to bedside

Seminars in Neurology

Volumn 32, Issue 3, 2012, Pages 246-254

  Johnson, Nicholas E ^a   Heatwole, Chad R ^a  

^a UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

Author keywords

congenital myotonic dystrophy; myotonic dystrophy type 1; myotonic dystrophy type 2

Indexed keywords

ACETAZOLAMIDE; AMITRIPTYLINE; CARBAMAZEPINE; CLOMIPRAMINE; FLECAINIDE; IMIPRAMINE; INSULIN; MEXILETINE; MYOTONIC DYSTROPHY PROTEIN KINASE; NIFEDIPINE; NONSTEROID ANTIINFLAMMATORY AGENT; NUCLEOTIDE; PHENYTOIN; TAURINE; TESTOSTERONE; TETRANUCLEOTIDE; TRINUCLEOTIDE; UNCLASSIFIED DRUG;

ABDOMINAL PAIN; AEROBIC EXERCISE; ANESTHESIA; ANKLE FOOT ORTHOSIS; ARTICLE; AUDIOMETRY; AVOIDANT PERSONALITY DISORDER; BLOATING; CANCER RISK; CATARACT; CLINICAL FEATURE; CONSTIPATION; DAYTIME SOMNOLENCE; DEFIBRILLATOR; DIAGNOSTIC PROCEDURE; DIARRHEA; DIET THERAPY; DISEASE COURSE; DISEASE SEVERITY; DYSARTHRIA; DYSPHAGIA; ELECTROCARDIOGRAM; ELECTRODIAGNOSIS; FLEXOR MUSCLE; FORCED VITAL CAPACITY; GASTROESOPHAGEAL REFLUX; GASTROSTOMY; GENETIC COUNSELING; GENETIC DISORDER; GENOTYPE PHENOTYPE CORRELATION; GOLD STANDARD; HEARING IMPAIRMENT; HEART MUSCLE CONDUCTION DISTURBANCE; HORMONE SUBSTITUTION; HYPOGONADISM; INSULIN RESISTANCE; LABORATORY TEST; LEUKOCYTE; MENTAL DETERIORATION; MUSCLE ATROPHY; MUSCLE STRENGTH; MUSCLE WEAKNESS; MYOTONIA; MYOTONIC DYSTROPHY; NOCTURNAL RESPIRATORY FAILURE; OCCUPATIONAL THERAPY; ONSET AGE; PACEMAKER; PAIN; PATHOGENESIS; PERCEPTION DISORDER; PHYSIOTHERAPY; PILOMATRIXOMA; POLYSOMNOGRAPHY; PREGNANCY COMPLICATION; PRIORITY JOURNAL; PROTEIN RNA BINDING; REM SLEEP; RESPIRATORY FAILURE; RISK ASSESSMENT; SLEEP DISORDERED BREATHING; SLIT LAMP; THYROID DISEASE; TRINUCLEOTIDE REPEAT; WALKER; WHEELCHAIR;

FEMALE; GENETIC COUNSELING; HUMANS; MYOTONIC DYSTROPHY; NEOPLASMS; PREGNANCY;

EID: 84868215784     PISSN: 02718235     EISSN: 10989021     Source Type: Journal    
DOI: 10.1055/s-0032-1329202     Document Type: Article

References (95)

1. Harper P. S. Myotonic Dystrophy. London W.B. Saunders: 2001
2. Day J. W., Ricker K., Jacobsen J. F., et al. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology: 2003; 60 4 657 664
3. López de Munain A., Blanco A., Emparanza J. I., et al. Prevalence of myotonic dystrophy in Guipúzcoa (Basque Country, Spain). Neurology: 1993; 43 8 1573 1576
4. Mathieu J., De Braekeleer M., Prévost C. Genealogical reconstruction of myotonic dystrophy in the Saguenay-Lac-Saint-Jean area (Quebec, Canada). Neurology: 1990; 40 5 839 842
5. Medica I., Marković D., Peterlin B. Genetic epidemiology of myotonic dystrophy in Istria, Croatia. Acta Neurol Scand: 1997; 95 3 164 166
6. Suominen T., Bachinski L. L., Auvinen S., et al. Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. Eur J Hum Genet: 2011; 19 7 776 782
7. Brook J. D., McCurrach M. E., Harley H. G., et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3 end of a transcript encoding a protein kinase family member. Cell: 1992; 68 4 799 808
8. Fu Y. H., Pizzuti A., Fenwick R. G. Jr., et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science: 1992; 255 5049 1256 1258
9. Mahadevan M., Tsilfidis C., Sabourin L., et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3 untranslated region of the gene. Science: 1992; 255 5049 1253 1255
10. De Temmerman N., Sermon K., Seneca S., et al. Intergenerational instability of the expanded CTG repeat in the DMPK gene: studies in human gametes and preimplantation embryos. Am J Hum Genet: 2004; 75 2 325 329
11. Heatwole C. R., Bode R., Johnson N. E., et al. Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1). Neurology: 2012; 79 4 348 357
12. Nakamori M., Gourdon G., Thornton C. A. Stabilization of expanded (CTG)(CAG) repeats by antisense oligonucleotides. Mol Ther: 2011; 19 12 2222 2227
13. Gourdon G., Radvanyi F., Lia A. S., et al. Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice. Nat Genet: 1997; 15 2 190 192
14. Joseph J. T., Richards C. S., Anthony D. C., Upton M., Perez-Atayde A. R., Greenstein P. Congenital myotonic dystrophy pathology and somatic mosaicism. Neurology: 1997; 49 5 1457 1460
15. Mankodi A., Takahashi M. P., Jiang H., et al. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell: 2002; 10 1 35 44
16. Mankodi A., Teng-Umnuay P., Krym M., Henderson D., Swanson M., Thornton C. A. Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2. Ann Neurol: 2003; 54 6 760 768
17. Wheeler T. M. Myotonic dystrophy: therapeutic strategies for the future. Neurotherapeutics: 2008; 5 4 592 600
18. Osborne R. J., Lin X., Welle S., et al. Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy. Hum Mol Genet: 2009; 18 8 1471 1481
19. Charlet-B N., Savkur R. S., Singh G., Philips A. V., Grice E. A., Cooper T. A. Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell: 2002; 10 1 45 53
20. Savkur R. S., Philips A. V., Cooper T. A. Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet: 2001; 29 1 40 47
21. Savkur R. S., Philips A. V., Cooper T. A., et al. Insulin receptor splicing alteration in myotonic dystrophy type 2. Am J Hum Genet: 2004; 74 6 1309 1313
22. Orengo J. P., Chambon P., Metzger D., Mosier D. R., Snipes G. J., Cooper T. A. Expanded CTG repeats within the DMPK 3 UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy. Proc Natl Acad Sci U S A: 2008; 105 7 2646 2651
23. Wang G. S., Kuyumcu-Martinez M. N., Sarma S., Mathur N., Wehrens X. H., Cooper T. A. PKC inhibition ameliorates the cardiac phenotype in a mouse model of myotonic dystrophy type 1. J Clin Invest: 2009; 119 12 3797 3806
24. Bachinski L. L., Udd B., Meola G., et al. Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect. Am J Hum Genet: 2003; 73 4 835 848
25. Liquori C. L., Ricker K., Moseley M. L., et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science: 2001; 293 5531 864 867
26. Ranum L. P., Rasmussen P. F., Benzow K. A., Koob M. D., Day J. W. Genetic mapping of a second myotonic dystrophy locus. Nat Genet: 1998; 19 2 196 198
27. Cardani R., Mancinelli E., Giagnacovo M., Sansone V., Meola G. Ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsies. Eur J Histochem: 2009; 53 2 107 111
28. Lam S. L., Wu F., Yang H., Chi L. M. The origin of genetic instability in CCTG repeats. Nucleic Acids Res: 2011; 39 14 6260 6268
29. Timchenko L. T., Tapscott S. J., Cooper T. A., Monckton D. G. Myotonic dystrophy: discussion of molecular basis. Adv Exp Med Biol: 2002; 516 27 45
30. Ranum L. P., Day J. W. Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2. Curr Neurol Neurosci Rep: 2002; 2 5 465 470
31. Huichalaf C., Schoser B., Schneider-Gold C., Jin B., Sarkar P., Timchenko L. Reduction of the rate of protein translation in patients with myotonic dystrophy 2. J Neurosci: 2009; 29 28 9042 9049
32. Salisbury E., Schoser B., Schneider-Gold C., et al. Expression of RNA CCUG repeats dysregulates translation and degradation of proteins in myotonic dystrophy 2 patients. Am J Pathol: 2009; 175 2 748 762
33. Logigian E. L., Blood C. L., Dilek N., et al. Quantitative analysis of the "warm-upo" phenomenon in myotonic dystrophy type 1. Muscle Nerve: 2005; 32 1 35 42
34. Groh W. J., Groh M. R., Saha C., et al. Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1. N Engl J Med: 2008; 358 25 2688 2697
35. Fung K. C., Corbett A., Kritharides L. Myocardial tissue velocity reduction is correlated with clinical neurologic severity in myotonic dystrophy. Am J Cardiol: 2003; 92 2 177 181
36. Sabovic M., Medica I., Logar N., Mandić E., Zidar J., Peterlin B. Relation of CTG expansion and clinical variables to electrocardiogram conduction abnormalities and sudden death in patients with myotonic dystrophy. Neuromuscul Disord: 2003; 13 10 822 826
37. Vinereanu D., Bajaj B. P., Fenton-May J., Rogers M. T., Mädler C. F., Fraser A. G. Subclinical cardiac involvement in myotonic dystrophy manifesting as decreased myocardial Doppler velocities. Neuromuscul Disord: 2004; 14 3 188 194
38. Arsenault M. E., Prévost C., Lescault A., Laberge C., Puymirat J., Mathieu J. Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions. Neurology: 2006; 66 8 1248 1250
39. Ciafaloni E., Mignot E., Sansone V., et al. The hypocretin neurotransmission system in myotonic dystrophy type 1. Neurology: 2008; 70 3 226 230
40. Gibbs J. W. III, Ciafaloni E., Radtke R. A. Excessive daytime somnolence and increased rapid eye movement pressure in myotonic dystrophy. Sleep: 2002; 25 6 662 665
41. Meola G., Sansone V. Cerebral involvement in myotonic dystrophies. Muscle Nerve: 2007; 36 3 294 306
42. Meola G., Sansone V., Perani D., et al. Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2). Neuromuscul Disord: 2003; 13 10 813 821
43. Sistiaga A., Urreta I., Jodar M., et al. Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1. Psychol Med: 2010; 40 3 487 495
44. Gaul C., Schmidt T., Windisch G., et al. Subtle cognitive dysfunction in adult onset myotonic dystrophy type 1 (DM1) and type 2 (DM2). Neurology: 2006; 67 2 350 352
45. Weber Y. G., Roebling R., Kassubek J., et al. Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2. Neurology: 2010; 74 14 1108 1117
46. Modoni A., Silvestri G., Vita M. G., Quaranta D., Tonali P. A., Marra C. Cognitive impairment in myotonic dystrophy type 1 (DM1): a longitudinal follow-up study. J Neurol: 2008; 255 11 1737 1742
47. Modoni A., Silvestri G., Pomponi M. G., Mangiola F., Tonali P. A., Marra C. Characterization of the pattern of cognitive impairment in myotonic dystrophy type 1. Arch Neurol: 2004; 61 12 1943 1947
48. Wozniak J. R., Mueller B. A., Ward E. E., Lim K. O., Day J. W. White matter abnormalities and neurocognitive correlates in children and adolescents with myotonic dystrophy type 1: a diffusion tensor imaging study. Neuromuscul Disord: 2011; 21 2 89 96
49. Rönnblom A., Andersson S., Danielsson A. Mechanisms of diarrhoea in myotonic dystrophy. Eur J Gastroenterol Hepatol: 1998; 10 7 607 610
50. Moxley R. T. III, Meola G. The myotonic dystrophies. In: Rosenberg R. N., DiMauro S., Paulson H. L., Ptacek L., Nestler E. J., eds. The Molecular and Genetic Basis of Neurologic and Psychiatric Disease. 4th ed. Philadelphia, PA Lippincott Williams & Wilkins: 2007; 511 518
51. Heatwole C. R., Miller J., Martens B., Moxley R. T. III. Laboratory abnormalities in ambulatory patients with myotonic dystrophy type 1. Arch Neurol: 2006; 63 8 1149 1153
52. Zaki M., Boyd P. A., Impey L., Roberts A., Chamberlain P. Congenital myotonic dystrophy: prenatal ultrasound findings and pregnancy outcome. Ultrasound Obstet Gynecol: 2007; 29 3 284 288
53. Campbell C., Sherlock R., Jacob P., Blayney M. Congenital myotonic dystrophy: assisted ventilation duration and outcome. Pediatrics: 2004; 113 4 811 816
54. Moxley R. T. III, Meola G., Udd B., Ricker K. Report of the 84th ENMC workshop: PROMM (proximal myotonic myopathy) and other myotonic dystrophy-like syndromes: 2nd workshop. 13-15th October, 2000, Loosdrecht, The Netherlands. Neuromuscul Disord: 2002; 12 3 306 317
55. Ricker K., Koch M. C., Lehmann-Horn F., et al. Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy. Arch Neurol: 1995; 52 1 25 31
56. Day J. W., Roelofs R., Leroy B., Pech I., Benzow K., Ranum L. P. Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2). Neuromuscul Disord: 1999; 9 1 19 27
57. Thornton C. A., Johnson K., Moxley R. T. III. Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes. Ann Neurol: 1994; 35 1 104 107
58. Young N. P., Daube J. R., Sorenson E. J., Milone M. Absent, unrecognized, and minimal myotonic discharges in myotonic dystrophy type 2. Muscle Nerve: 2010; 41 6 758 762
59. Logigian E. L., Ciafaloni E., Quinn L. C., et al. Severity, type, and distribution of myotonic discharges are different in type 1 and type 2 myotonic dystrophy. Muscle Nerve: 2007; 35 4 479 485
60. Suokas K. I., Haanpää M., Kautiainen H., Udd B., Hietaharju A. J. Pain in patients with myotonic dystrophy type 2: a postal survey in Finland. Muscle Nerve: 2012; 45 1 70 74
61. George A., Schneider-Gold C., Zier S., Reiners K., Sommer C. Musculoskeletal pain in patients with myotonic dystrophy type 2. Arch Neurol: 2004; 61 12 1938 1942
62. Meola G., Sansone V., Marinou K., et al. Proximal myotonic myopathy: a syndrome with a favourable prognosis? J Neurol Sci: 2002; 193 2 89 96
63. Akiguchi I., Nakano S., Shiino A., et al. Brain proton magnetic resonance spectroscopy and brain atrophy in myotonic dystrophy. Arch Neurol: 1999; 56 3 325 330
64. Chang L., Ernst T., Osborn D., Seltzer W., Leonido-Yee M., Poland R. E. Proton spectroscopy in myotonic dystrophy: correlations with CTG repeats. Arch Neurol: 1998; 55 3 305 311
65. Tieleman A. A., Knoop H., van de Logt A. E., Bleijenberg G., van Engelen B. G., Overeem S. Poor sleep quality and fatigue but no excessive daytime sleepiness in myotonic dystrophy type 2. J Neurol Neurosurg Psychiatry: 2010; 81 9 963 967
66. Schoser B. G., Ricker K., Schneider-Gold C., et al. Sudden cardiac death in myotonic dystrophy type 2. Neurology: 2004; 63 12 2402 2404
67. Heatwole C., Johnson N., Goldberg B., Martens W., Moxley R. III. Laboratory abnormalities in patients with myotonic dystrophy type 2. Arch Neurol: 2011; 68 9 1180 1184
68. Johnson N., Heatwole C. R. Myotonic dystrophies. In: Tawil R. N., Venance S., eds. Neuromuscular Disorders. Oxford, UK Wiley-Blackwell: 2011; 80 86
69. Vihola A., Bassez G., Meola G., et al. Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2. Neurology: 2003; 60 11 1854 1857
70. Schoser B. G., Schneider-Gold C., Kress W., et al. Muscle pathology in 57 patients with myotonic dystrophy type 2. Muscle Nerve: 2004; 29 2 275 281
71. Pisani V., Panico M. B., Terracciano C., et al. Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2. Muscle Nerve: 2008; 38 5 1405 1411
72. Orngreen M. C., Olsen D. B., Vissing J. Aerobic training in patients with myotonic dystrophy type 1. Ann Neurol: 2005; 57 5 754 757
73. Kilmer D. D., McCrory M. A., Wright N. C., Aitkens S. G., Bernauer E. M. The effect of a high resistance exercise program in slowly progressive neuromuscular disease. Arch Phys Med Rehabil: 1994; 75 5 560 563
74. Logigian E. L., Martens W. B., Moxley R. T. IV., et al. Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1. Neurology: 2010; 74 18 1441 1448
75. Desaphy J. F., De Luca A., Didonna M. P., George A. L. Jr, Camerino Conte D. Different flecainide sensitivity of hNav1.4 channels and myotonic mutants explained by state-dependent block. J Physiol: 2004; 554 Pt 2 321 334
76. Trip J., Drost G., van Engelen B. G., Faber C. G. Drug treatment for myotonia. Cochrane Database Syst Rev: 2006; 1 CD004762
77. Damian M. S., Gerlach A., Schmidt F., Lehmann E., Reichmann H. Modafinil for excessive daytime sleepiness in myotonic dystrophy. Neurology: 2001; 56 6 794 796
78. MacDonald J. R., Hill J. D., Tarnopolsky M. A. Modafinil reduces excessive somnolence and enhances mood in patients with myotonic dystrophy. Neurology: 2002; 59 12 1876 1880
79. White R. J., Bass S. P. Myotonic dystrophy and paediatric anaesthesia. Paediatr Anaesth: 2003; 13 2 94 102
80. Weingarten T. N., Hofer R. E., Milone M., Sprung J. Anesthesia and myotonic dystrophy type 2: a case series. Can J Anaesth: 2010; 57 3 248 255
81. Rudnik-Schöneborn S., Zerres K. Outcome in pregnancies complicated by myotonic dystrophy: a study of 31 patients and review of the literature. Eur J Obstet Gynecol Reprod Biol: 2004; 114 1 44 53
82. Rudnik-Schöneborn S., Schneider-Gold C., Raabe U., Kress W., Zerres K., Schoser B. G. Outcome and effect of pregnancy in myotonic dystrophy type 2. Neurology: 2006; 66 4 579 580
83. Newman B., Meola G., O'Donovan D. G., Schapira A. H., Kingston H. Proximal myotonic myopathy (PROMM) presenting as myotonia during pregnancy. Neuromuscul Disord: 1999; 9 3 144 149
84. Gadalla S. M., Lund M., Pfeiffer R. M., et al. Cancer risk among patients with myotonic muscular dystrophy. JAMA: 2011; 306 22 2480 2486
85. Foff E. P., Mahadevan M. S. Therapeutics development in myotonic dystrophy type 1. Muscle Nerve: 2011; 44 2 160 169
86. Mulders S. A., van den Broek W. J., Wheeler T. M., et al. Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy. Proc Natl Acad Sci U S A: 2009; 106 33 13915 13920
87. Wheeler T. M., Sobczak K., Lueck J. D., et al. Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA. Science: 2009; 325 5938 336 339
88. Goemans N. M., Tulinius M., van den Akker J. T., et al. Systemic administration of PRO051 in Duchenne's muscular dystrophy. N Engl J Med: 2011; 364 16 1513 1522
89. Cirak S., Arechavala-Gomeza V., Guglieri M., et al. Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study. Lancet: 2011; 378 9791 595 605
90. Langlois M. A., Lee N. S., Rossi J. J., Puymirat J. Hammerhead ribozyme-mediated destruction of nuclear foci in myotonic dystrophy myoblasts. Mol Ther: 2003; 7 5 Pt 1 670 680
91. Langlois M. A., Boniface C., Wang G., et al. Cytoplasmic and nuclear retained DMPK mRNAs are targets for RNA interference in myotonic dystrophy cells. J Biol Chem: 2005; 280 17 16949 16954
92. Soifer H. S., Rossi J. J., Saetrom P. MicroRNAs in disease and potential therapeutic applications. Mol Ther: 2007; 15 12 2070 2079
93. Warf M. B., Nakamori M., Matthys C. M., Thornton C. A., Berglund J. A. Pentamidine reverses the splicing defects associated with myotonic dystrophy. Proc Natl Acad Sci U S A: 2009; 106 44 18551 18556
94. Ward A. J., Rimer M., Killian J. M., Dowling J. J., Cooper T. A. CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1. Hum Mol Genet: 2010; 19 18 3614 3622
95. Wheeler T. M., Lueck J. D., Swanson M. S., Dirksen R. T., Thornton C. A. Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy. J Clin Invest: 2007; 117 12 3952 3957