Epidemiology of myotonic dystrophy in the molecular era: Implications for clinical trials and association studies

Myotonic Dystrophies: Epidemiology, Diagnosis and Therapeutic Challenges

Volumn , Issue , 2015, Pages 1-12

  Massa, Roberto ^a,b   Vanacore, Nicola ^a,b  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b ISTITUTO SUPERIORE DI SANITÀ   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84958692190     PISSN: None     EISSN: None     Source Type: Book    
DOI: None     Document Type: Chapter

References (40)

1. Steinert H. Uber das klinische und anatomische Bild des Muskelschwundes der Myotoniker. Dtsch Z Nervenheilk. 1909; 37:38.
2. Batten FE and Gibb HP. Myotonia Atrophica. Brain. 1909; 32: 187-205.
3. Tramonte JJ and Burns TM. Myotonic Dystrophy. Arch Neurol. 2005; 62: 1316-1319.
4. rd ed. Philadelphia, PA: WB Saunders; 2001.
5. Ashizawa T, Epstein HF. Ethnic distribution of myotonic dystrophy gene. Lancet. 1991; 338: 642-643.
6. Passos-Bueno MR, Cerqueira A, Vainzof M, Marie SK, Zatz M. Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 Brazilian families. J Med Genet. 1995; 32: 14-18.
7. Goldman A, Krause A, Ramsay M, Jenkins T. Founder effect and prevalence of myotonic dystrophy in South Africans: molecular studies. Am J Hum Genet. 1996; 59: 445-452.
8. Ford C, Kidd A, Hammond-Tooke G. Myotonic dystrophy in Otago, New Zealand. N Z Med J. 2006; 119: U2145.
9. Imbert G, Kretz C, Johnson K, Mandel JL. Origin of the expansion mutation in myotonic dystrophy. Nat Genet. 1993; 4: 72-76.
10. Suthers GK, Huson SM, Davies KE. Instability versus predictability: the molecular diagnosis of myotonic dystrophy. J Med Genet. 1992; 29: 761-765.
11. Sizhong Z, Hui W, Agen P, Cuiying X, Ge Z, Yiping H, Jiayou C. Low incidence of myotonic dystrophy in Chinese Hans is associated with a lower number of CTG trinucleotide repeats. Am J Med Genet. 2000; 96: 425-428.
12. Pan H, Lin HM, Ku WY, Li TC, Li SY, Lin CC, Hsiao KM. Haplotype analysis of the myotonic dystrophy type 1 (DM1) locus in Taiwan: implications for low prevalence and founder mutations of Taiwanese myotonic dystrophy type 1. Eur J Hum Genet. 2001; 9: 638-641.
13. Hsiao KM, Chen SS, Li SY, Chiang SY, Lin HM, Pan H, Huang CC, Kuo HC, Jou SB, Su CC, Ro LS, Liu CS, Lo MC, Chen CM, Lin CC. Epidemiological and genetic studies of myotonic dystrophy type 1 in Taiwan. Neuroepidemiology. 2003; 22: 283-289.
14. Kwon MJ, Lee ST, Kim BJ, Sung DH, Kim JW, Ki CS. Haplotype analysis of the myotonic dystrophy type 1 (DM1) locus in the Korean population. Ann Clin Lab Sci. 2010; 40: 156-162.
15. Krahe R, Eckhart M, Ogunniyi AO, Osuntokun BO, Siciliano MJ, Ashizawa T. De novo myotonic dystrophy mutation in a Nigerian kindred. Am J Hum Genet. 1995; 56: 1067-1074.
16. Neville CE, Mahadevan MS, Barceló JM, Korneluk RG. High-resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation. Hum Mol Genet.1994; 3: 45-51.
17. Theadom A, Rodrigues M, Roxburgh R, Balalla S, Higgins C, Bhattacharjee R, Jones K, Krishnamurthi R, Feigin V. Prevalence of muscular dystrophies: a systematic literature review. Neuroepidemiology. 2014; 43: 259-268.
18. Mathieu J, Prévost C. Epidemiological surveillance of myotonic dystrophy type 1: a 25-year population-based study. Neuromuscul Disord. 2012 ;22: 974-979.
19. Siciliano G, Manca M, Gennarelli M, Angelini C, Rocchi A, Iudice A, Miorin M, Mostacciuolo M. Epidemiology of myotonic dystrophy in Italy: re-apprisal after genetic diagnosis. Clin Genet. 2001; 59: 344-349.
20. Norwood FLM, Harling C, Chinnery PF, Eagle M, Bushby K, and Straub V. Prevalence of genetic muscle disease in Northern England: in depth analysis of a muscle clinic population. Brain. 2009; 132: 3175-3186.
21. Magee A, Nevin NC. The epidemiology of myotonic dystrophy in Northern Ireland. Community Genet. 1999; 2: 179-183.
22. Burcet J, Cañellas F, Cavaller G, Vich M. [Epidemiologic study of myotonic dystrophy on the island of Mallorca]. [Article in Spanish]. Neurologia. 1992; 7: 61-64.
23. Vanacore N, Rastelli E, Antonini G, Bianchi MLE, Botta A, Bucci E, Costanzi-Porrini S, Giacanelli M, Gibellini M, Novelli G, Pennisi E, Petrucci A, Piantadosi C, Silvestri G, Terracciano C, Massa R. An ageadjusted, sex-and age-specific prevalence estimate of Myotonic Dystrophy type 1 and type 2 in the Rome Province, Italy. Submitted for publication.
24. López de Munain A, Blanco A, Emparanza JI, Poza JJ, Martí Massó JF, Cobo A, Martorell L, Baiget M, Martínez Lage JM. Prevalence of myotonic dystrophy in Guipúzcoa (Basque Country, Spain). Neurology. 1993; 43: 1573-1576.
25. Leifsdóttir G, Benedikz JE, Jóhannesson G, Jónsson JJ, Sveinbjörnsdóttir S. [Prevalence of myotonic dystrophy in Iceland]. [Article in Icelandic]. Laeknabladid. 2005; 91: 829-834.
26. Mathieu J, De Braekeleer M, Prévost C. Genealogical reconstruction of myotonic dystrophy in the Saguenay-Lac-Saint-Jean area (Quebec, Canada). Neurology. 1990; 40: 839-842.
27. Mor-Cohen R, Magal N, Gadoth N, Shohat T, Shohat M. Correlation between the incidence of myotonic dystrophy in different groups in Israel and the number of CTG trinucleotide repeats in the myotonin gene. Am J Med Genet. 1997; 71: 156-159.
28. Mladenovic J, Pekmezovic T, Todorovic S, Rakocevic-Stojanovic V, Savic D, Romac S, Apostolski S. Epidemiology of myotonic dystrophy type 1 (Steinert disease) in Belgrade (Serbia). Clin Neurol Neurosurg. 2006; 108: 757-760.
29. Salehi LB, Bonifazi E, Stasio ED, Gennarelli M, Botta A, Vallo L, Iraci R, Massa R, Antonini G, Angelini C, Novelli G. Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients. Genet Test. 2007; 11: 84-90.
30. Hilbert JE, Ashizawa T, Day JW, Luebbe EA, Martens WB, McDermott MP, Tawil R, Thornton CA, Moxley RT 3rd. Diagnostic odyssey of patients with myotonic dystrophy. J Neurol. 2013; 260: 2497-2504.
31. Liquori CL, Ikeda Y, Weatherspoon M, Ricker K, Schoser BG, Dalton JC, Day JW, Ranum LP. Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract. Am J Hum Genet. 2003; 73: 849-862.
32. Bachinski LL, Udd B, Meola G, Sansone V, Bassez G, Eymard B, Thornton CA, Moxley RT, Harper PS, Rogers MT, Jurkat-Rott K, Lehmann-Horn F, Wieser T, Gamez J, Navarro C, Bottani A, Kohler A, Shriver MD, Sallinen R, Wessman M, Zhang S, Wright FA, Krahe R. 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.
33. th Workshop, 14-16 February 2003, Naarden, The Netherlands. Neuromuscul Disord. 2003; 13: 589-596.
34. Coenen MJ, Tieleman AA, Schijvenaars MM, Leferink M, Ranum LP, Scheffer H, van Engelen BG. Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype. Eur J Hum Genet. 2011; 19: 567-570.
35. Saito T, Amakusa Y, Kimura T, Yahara O, Aizawa H, Ikeda Y, Day JW, Ranum LP, Ohno K, Matsuura T. Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families. Neurogenetics. 2008; 9: 61-63.
36. Schoser BG, Schneider-Gold C, Kress W, Goebel HH, Reilich P, Koch MC, Pongratz DE, Toyka KV, Lochmüller H, Ricker K. Muscle pathology in 57 patients with myotonic dystrophy type 2. Muscle Nerve. 2004; 29: 275-281.
37. rd, Hilbert JE, Martens WB, Letren L, Greene MH, Gadalla SM. Correlates of tumor development in patients with myotonic dystrophy. J Neurol. 2012; 259: 2161-2166.
38. Suominen T, Bachinski LL, Auvinen S, Hackman P, Baggerly KA, Angelini C, Peltonen L, Krahe R, Udd B. 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.
39. Hilbert JE, Kissel JT, Luebbe EA, Martens WB, McDermott MP, Sanders DB, Tawil R, Thornton CA, Moxley RT 3rd; Registry Scientific Advisory Committee. If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD). Contemp Clin Trials. 2012; 33: 302-311.
40. Gadalla SM, Lund M, Pfeiffer RM, Gørtz S, Mueller CM, Moxley RT 3rd, Kristinsson SY, Björkholm M, Shebl FM, Hilbert JE, Landgren O, Wohlfahrt J, Melbye M, Greene MH. Cancer risk among patients with myotonic muscular dystrophy. JAMA. 2011; 306: 2480-2486.