Myotonic dystrophy

Neurologic Clinics

Volumn 32, Issue 3, 2014, Pages 705-719

  Thornton, Charles A ^a  

^a UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

Author keywords

Electrophysiology; Expanded DNA repeat; Myopathy; Myotonic dystrophy

Indexed keywords

ANABOLIC AGENT; ANTIARRHYTHMIC AGENT; ANTICONVULSIVE AGENT; ANTISENSE OLIGONUCLEOTIDE; DM1 PROTEIN; DM2 PROTEIN; MBNL PROTEIN; METHYLPHENIDATE; MEXILETINE; MODAFINIL; MYOTONIC DYSTROPHY PROTEIN KINASE; PLACEBO; RECOMBINANT GROWTH FACTOR; RECOMBINANT INSULIN LIKE GROWTH FACTOR; RNA; RNA BINDING PROTEIN; TESTOSTERONE; UNCLASSIFIED DRUG;

ALLELE; ANTICONVULSANT THERAPY; BRAIN ELECTROPHYSIOLOGY; CATARACT; CENTRAL NERVOUS SYSTEM; CHILDHOOD DISEASE; CLINICAL FEATURE; DAYTIME SOMNOLENCE; DEFIBRILLATION; DEFIBRILLATOR; ELECTROMYOGRAPHY; EPIDEMIOLOGICAL DATA; EXERCISE TEST; FIBROMYALGIA; GASTROINTESTINAL SYMPTOM; GENE MUTATION; GENE THERAPY; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC DISORDER; GENETIC SCREENING; HEART DISEASE; HUMAN; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOTONIA; MYOTONIC DYSTROPHY; NEUROMUSCULAR DISEASE; NUCLEOTIDE REPEAT; PACEMAKER; PATHOGENESIS; PATHOPHYSIOLOGY; POLYADENYLATION; PREVALENCE; PRIORITY JOURNAL; RANDOMIZED CONTROLLED TRIAL (TOPIC); REVIEW; RNA TRANSPORT; SIGNAL TRANSDUCTION; SLIT LAMP; SYMPTOM; ETHNOLOGY; EUROPE; FEMALE; GENETICS; MALE; METABOLISM;

EUROPE; FEMALE; HUMANS; MALE; MYOTONIC DYSTROPHY;

EID: 84904362279     PISSN: 07338619     EISSN: 15579875     Source Type: Journal    
DOI: 10.1016/j.ncl.2014.04.011     Document Type: Review

References (110)

1. 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, 19:776-782.
2. Norwood F.L., Harling C., Chinnery P.F., et al. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain 2009, 132:3175-3186.
3. Siciliano G., Manca M., Gennarelli M., et al. Epidemiology of myotonic dystrophy in Italy: re-apprisal after genetic diagnosis. Clin Genet 2001, 59:344-349.
4. Magee A., Nevin N.C. The epidemiology of myotonic dystrophy in Northern Ireland. Community Genet 1999, 2:179-183.
5. Harper P.S. Myotonic dystrophy 2001, W.B. Saunders Company, London.
6. Lotz B.P., van der Meyden C.H. Myotonic dystrophy. Part I. A genealogical study in the northern Transvaal. SAfr Med J 1985, 67:812-814.
7. Ashizawa T., Epstein H.F. Ethnic distribution of myotonic dystrophy gene. Lancet 1991, 338:642-643.
8. Hsiao K.M., Chen S.S., Li S.Y., et al. Epidemiological and genetic studies of myotonic dystrophy type 1 in Taiwan. Neuroepidemiology 2003, 22:283-289.
9. Yotova V., Labuda D., Zietkiewicz E., et al. Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec. Hum Genet 2005, 117:177-187.
10. Udd B., Meola G., Krahe R., et al. 140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management. Neuromuscul Disord 2006, 16:403-413.
11. 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, 73:835-848.
12. 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, 68:799-808.
13. 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, 293:864-867.
14. Bachinski L.L., Czernuszewicz T., Ramagli L.S., et al. Premutation allele pool in myotonic dystrophy type 2. Neurology 2009, 72:490-497.
15. Day J.W., Ricker K., Jacobsen J.F., et al. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology 2003, 60:657-664.
16. Redman J.B., Fenwick R.G., Fu Y.H., et al. Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring. JAMA 1993, 269:1960-1965.
17. 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, 75:325-329.
18. Ashizawa T., Dubel J.R., Harati Y. Somatic instability of CTG repeat in myotonic dystrophy. Neurology 1993, 43:2674-2678.
19. Thornton C.A., Johnson K., Moxley R.T. Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes. Ann Neurol 1994, 35:104-107.
20. Zatz M., Passos-Bueno M.R., Cerqueira A., et al. Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur?. Hum Mol Genet 1995, 4:401-406.
21. Nakamori M., Sobczak K., Puwanant A., et al. Splicing biomarkers of disease severity in myotonic dystrophy. Ann Neurol 2013, 74:862-872.
22. Pearson C.E., Nichol E.K., Cleary J.D. Repeat instability: mechanisms of dynamic mutations. Nat Rev Genet 2005, 6:729-742.
23. Barcelo J.M., Mahadevan M.S., Tsilfidis C., et al. Intergenerational stability of the myotonic dystrophy protomutation. Hum Mol Genet 1993, 2:705-709.
24. Tsilfidis C., MacKenzie A.E., Mettler G., et al. Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nat Genet 1992, 1:192-195.
25. Martorell L., Monckton D.G., Sanchez A., et al. Frequency and stability of the myotonic dystrophy type 1 premutation. Neurology 2001, 56:328-335.
26. Ashizawa T., Anvret M., Baiget M., et al. Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy. Am J Hum Genet 1994, 54:414-423.
27. Braida C., Stefanatos R.K., Adam B., et al. Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients. Hum Mol Genet 2010, 19:1399-1412.
28. Schneider C., Ziegler A., Ricker K., et al. Proximal myotonic myopathy: evidence for anticipation in families with linkage to chromosome 3q. Neurology 2000, 55:383-388.
29. Harper P.S. Congenital myotonic dystrophy in Britain. I. Clinical aspects. Arch Dis Child 1975, 50:505-513.
30. Zaki M., Boyd P.A., Impey L., et al. Congenital myotonic dystrophy: prenatal ultrasound findings and pregnancy outcome. Ultrasound Obstet Gynecol 2007, 29:284-288.
31. Campbell C., Levin S., Siu V.M., et al. Congenital myotonic dystrophy: Canadian population-based surveillance study. JPediatr 2013, 163:120-125.
32. Martorell L., Cobo A.M., 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, 27:68-72.
33. Ekstrom A.B., Hakenas-Plate L., Tulinius M., et al. Cognition and adaptive skills in myotonic dystrophy type 1: a study of 55 individuals with congenital and childhood forms. Dev Med Child Neurol 2009, 51:982-990.
34. Douniol M., Jacquette A., Cohen D., et al. Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1. Dev Med Child Neurol 2012, 54:905-911.
35. Angeard N., Jacquette A., Gargiulo M., et al. Anew window on neurocognitive dysfunction in the childhood form of myotonic dystrophy type 1 (DM1). Neuromuscul Disord 2011, 21:468-476.
36. de Die-Smulders C.E., Howeler C.J., Thijs C., et al. Age and causes of death in adult-onset myotonic dystrophy. Brain 1998, 121:1557-1563.
37. Groh W.J., Groh M.R., Saha C., et al. Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1. NEngl J Med 2008, 358:2688-2697.
38. Bhakta D., Groh M.R., Shen C., et al. Increased mortality with left ventricular systolic dysfunction and heart failure in adults with myotonic dystrophy type 1. Am Heart J 2010, 160:1137-1141.
39. Wahbi K., Meune C., Becane H.M., et al. Left ventricular dysfunction and cardiac arrhythmias are frequent in type 2 myotonic dystrophy: a case control study. Neuromuscul Disord 2009, 19:468-472.
40. Schoser B.G., Ricker K., Schneider-Gold C., et al. Sudden cardiac death in myotonic dystrophy type 2. Neurology 2004, 63:2402-2404.
41. Bugiardini E., Meola G., on behalf of the DMCNSG Consensus on cerebral involvement in myotonic dystrophy Workshop report. Neuromuscul Disord 2014, 24(5):445-452.
42. Meola G., Sansone V. Cerebral involvement in myotonic dystrophies. Muscle Nerve 2007, 36:294-306.
43. Ciafaloni E., Mignot E., Sansone V., et al. The Hypocretin Neurotransmission System in Myotonic Dystrophy Type 1. Neurology 2007, 70:226-230.
44. Laberge L., Begin P., Dauvilliers Y., et al. Apolysomnographic study of daytime sleepiness in myotonic dystrophy type 1. JNeurol Neurosurg Psychiatry 2009, 80:642-646.
45. Yu H., Laberge L., Jaussent I., et al. Daytime sleepiness and REM sleep characteristics in myotonic dystrophy: a case-control study. Sleep 2011, 34:165-170.
46. Minnerop M., Weber B., Schoene-Bake J.C., et al. The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease. Brain 2011, 134:3530-3546.
47. Wozniak J.R., Mueller B.A., Bell C.J., et al. Diffusion tensor imaging reveals widespread white matter abnormalities in children and adolescents with myotonic dystrophy type 1. JNeurol 2013, 260:1122-1131.
48. Heatwole C., Bode R., Johnson N., et al. Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1). Neurology 2012, 79:348-357.
49. Cardani R., Mancinelli E., Saino G., et al. Aputative role of ribonuclear inclusions and MBNL1 in the impairment of gallbladder smooth muscle contractility with cholelithiasis in myotonic dystrophy type 1. Neuromuscul Disord 2008, 18:641-645.
50. Gadalla S.M., Pfeiffer R.M., Kristinsson S.Y., et al. Quantifying cancer absolute risk and cancer mortality in the presence of competing events after a myotonic dystrophy diagnosis. PLoS One 2013, 8:e79851.
51. Gadalla S.M., Lund M., Pfeiffer R.M., et al. Cancer risk among patients with myotonic muscular dystrophy. JAMA 2011, 306:2480-2486.
52. Win A.K., Perattur P.G., Pulido J.S., et al. Increased cancer risks in myotonic dystrophy. Mayo Clin Proc 2012, 87:130-135.
53. Peric S., Nisic T., Milicev M., et al. Hypogonadism and erectile dysfunction in myotonic dystrophy type 1. Acta Myol 2013, 32:106-109.
54. Moxley R.T., Griggs R.C., Goldblatt D., et al. Decreased insulin sensitivity of forearm muscle in myotonic dystrophy. JClin Invest 1978, 62:857-867.
55. Heatwole C.R., Miller J., Martens B., et al. Laboratory abnormalities in ambulatory patients with myotonic dystrophy type 1. Arch Neurol 2006, 63:1149-1153.
56. Achiron A., Barak Y., Magal N., et al. Abnormal liver test results in myotonic dystrophy. JClin Gastroenterol 1998, 26:292-295.
57. Sander H.W., Tavoulareas G.P., Quinto C.M., et al. The exercise test distinguishes proximal myotonic myopathy from myotonic dystrophy. Muscle Nerve 1997, 20:235-237.
58. Fournier E., Viala K., Gervais H., et al. Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann Neurol 2006, 60:356-365.
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, 35:479-485.
60. Hanisch F., Kronenberger C., Zierz S., et al. The significance of pathological spontaneous activity in various myopathies. Clin Neurophysiol 2013, [Epub ahead of print].
61. Vihola A., Bassez G., Meola G., et al. Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2. Neurology 2003, 60:1854-1857.
62. Mankodi A., Teng-umnuay P., Krym M., et al. Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2. Ann Neurol 2003, 54:760-768.
63. Osborne R.J., Thornton C.A. RNA-dominant diseases. Hum Mol Genet 2006, 15:R162-R169.
64. Todd P.K., Paulson H.L. RNA-mediated neurodegeneration in repeat expansion disorders. Ann Neurol 2010, 67:291-300.
65. Taneja K.L., McCurrach M., Schalling M., et al. Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. JCell Biol 1995, 128:995-1002.
66. Davis B.M., McCurrach M.E., Taneja K.L., et al. Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts. Proc Natl Acad Sci USA 1997, 94:7388-7393.
67. Mankodi A., Lin X., Blaxall B.C., et al. Nuclear RNA foci in the heart in myotonic dystrophy. Circ Res 2005, 97:1152-1155.
68. Jiang H., Mankodi A., Swanson M.S., et al. Myotonic dystrophy type 1 associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins, and deregulated alternative splicing in neurons. Hum Mol Genet 2004, 13:3079-3088.
69. Mankodi A., Urbinati C.R., Yuan Q.P., et al. Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. Hum Mol Genet 2001, 10:2165-2170.
70. Miller J.W., Urbinati C.R., Teng-umnuay P., et al. Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J 2000, 19:4439-4448.
71. Ho T.H., Charlet B., Poulos M.G., et al. Muscleblind proteins regulate alternative splicing. EMBO J 2004, 23:3103-3112.
72. Wang E.T., Cody N.A., Jog S., et al. Transcriptome-wide Regulation of Pre-mRNA Splicing and mRNA Localization by Muscleblind Proteins. Cell 2012, 150:710-724.
73. Lin X., Miller J.W., Mankodi A., et al. Failure of MBNL1-dependent postnatal splicing transitions in myotonic dystrophy. Hum Mol Genet 2006, 15:2087-2097.
74. 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, 10:35-44.
75. Lueck J.D., Mankodi A., Swanson M.S., et al. Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy. JGen Physiol 2007, 129:79-94.
76. 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, 29:40-47.
77. Fugier C., Klein A.F., Hammer C., et al. Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. Nat Med 2011, 17:720-725.
78. Tang Z.Z., Yarotskyy V., Wei L., et al. Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of CaV1.1 calcium channel. Hum Mol Genet 2011, 21:1312-1324.
79. Bachinski L.L., Baggerly K.A., Neubauer V.L., et al. Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies. Neuromuscul Disord 2014, 24(3):227-240.
80. Kuyumcu-Martinez N.M., Wang G.S., Cooper T.A. Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation. Mol Cell 2007, 28:68-78.
81. Tian B., White R.J., Xia T., et al. Expanded CUG repeat RNAs form hairpins that activate the double-stranded RNA-dependent protein kinase PKR. RNA 2000, 6:79-87.
82. Philips A.V., Timchenko L.T., Cooper T.A. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 1998, 280:737-741.
83. Zu T., Gibbens B., Doty N.S., et al. Non-ATG-initiated translation directed by microsatellite expansions. Proc Natl Acad Sci USA 2011, 108:260-265.
84. Maeda M., Taft C.S., Bush E.W., et al. Identification, tissue-specific expression, and subcellular localization of the 80- and 71-kDa forms of myotonic dystrophy kinase protein. JBiol Chem 1995, 270:20246-20249.
85. Pelletier R., Hamel F., Beaulieu D., et al. Absence of a differentiation defect in muscle satellite cells from DM2 patients. Neurobiol Dis 2009, 36:181-190.
86. Raheem O., Olufemi S.E., Bachinski L.L., et al. Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2. Am J Pathol 2010, 177:3025-3036.
87. Huichalaf C., Schoser B., Schneider-Gold C., et al. Reduction of the rate of protein translation in patients with myotonic dystrophy 2. JNeurosci 2009, 29:9042-9049.
88. Margolis J.M., Schoser B.G., Moseley M.L., et al. DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression. Hum Mol Genet 2006, 15:1808-1815.
89. Artero R., Prokop A., Paricio N., et al. The muscleblind gene participates in the organization of Z-bands and epidermal attachments of Drosophila muscles and is regulated by Dmef2. Dev Biol 1998, 195:131-143.
90. Lee K.Y., Li M., Manchanda M., et al. Compound loss of muscleblind-like function in myotonic dystrophy. EMBO molecular medicine 2013, 5:1887-1900.
91. Amack J.D., Paguio A.P., Mahadevan M.S. Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model. Hum Mol Genet 1999, 8:1975-1984.
92. Poussel M., Kaminsky P., Renaud P., et al. Supine changes in lung function correlate with chronic respiratory failure in myotonic dystrophy patients. Respir Physiolo Neurobiol 2014, 193:43-51.
93. McNally E.M., Sparano D. Mechanisms and management of the heart in myotonic dystrophy. Heart 2011, 97:1094-1100.
94. van der Meche F.G., Bogaard J.M., van der Sluys J.C., et al. Daytime sleep in myotonic dystrophy is not caused by sleep apnoea. JNeurol Neurosurg Psychiatry 1994, 57:626-628.
95. MacDonald J.R., Hill J.D., Tarnopolsky M.A. Modafinil reduces excessive somnolence and enhances mood in patients with myotonic dystrophy. Neurology 2002, 59:1876-1880.
96. Orlikowski D., Chevret S., Quera-Salva M.A., et al. Modafinil for the treatment of hypersomnia associated with myotonic muscular dystrophy in adults: a multicenter, prospective, randomized, double-blind, placebo-controlled, 4-week trial. Clin Ther 2009, 31:1765-1773.
97. Griggs R.C., Pandya S., Florence J.M., et al. Randomized controlled trial of testosterone in myotonic dystrophy. Neurology 1989, 39:219-222.
98. Vlachopapadopoulou E., Zachwieja J.J., Gertner J.M., et al. Metabolic and clinical response to recombinant human insulin-like growth factor I in myotonic dystrophy-a clinical research center study. JClin Endocrinol Metab 1995, 80:3715-3723.
99. Heatwole C.R., Eichinger K.J., Friedman D.I., et al. Open-label trial of recombinant human insulin-like growth factor 1/recombinant human insulin-like growth factor binding protein 3 in myotonic dystrophy type 1. Arch Neurol 2011, 68:37-44.
100. Trip J., Drost G., van Engelen B.G., et al. Drug treatment for myotonia. Cochrane Database Syst Rev 2006, (25). CD004762.
101. Logigian E.L., Martens W.B., Moxley R.T., et al. Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1. Neurology 2010, 74:1441-1448.
102. Furling D., Doucet G., Langlois M.A., et al. Viral vector producing antisense RNA restores myotonic dystrophy myoblast functions. Gene Ther 2003, 10:795-802.
103. 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 USA 2009, 106:13915-13920.
104. Wheeler T.M., Leger A.J., Pandey S.K., et al. Targeting nuclear RNA for invivo correction of myotonic dystrophy. Nature 2012, 488:111-115.
105. Coonrod L.A., Nakamori M., Wang W., et al. Reducing levels of toxic RNA with small molecules. ACS Chem Biol 2013, 8:2528-2537.
106. Childs-Disney J.L., Hoskins J., Rzuczek S.G., et al. Rationally designed small molecules targeting the RNA that causes myotonic dystrophy type 1 are potently bioactive. ACS Chem Biol 2012, 7:856-862.
107. Arambula J.F., Ramisetty S.R., Baranger A.M., et al. Asimple ligand that selectively targets CUG trinucleotide repeats and inhibits MBNL protein binding. Proc Natl Acad Sci USA 2009, 106:16068-16073.
108. Ofori L.O., Hoskins J., Nakamori M., et al. From dynamic combinatorial 'hit' to lead: invitro and invivo activity of compounds targeting the pathogenic RNAs that cause myotonic dystrophy. Nucleic Acids Res 2012, 40:6380-6390.
109. Wang G.S., Kuyumcu-Martinez M.N., Sarma S., et al. PKC inhibition ameliorates the cardiac phenotype in a mouse model of myotonic dystrophy type 1. JClin Invest 2009, 119:3797-3806.
110. Kanadia R.N., Shin J., Yuan Y., et al. Reversal of RNA mis-splicing and myotonia following muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy. Proc Natl Acad Sci USA 2006, 103:11748-11753.