An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy

Neuroepidemiology

Volumn 46, Issue 3, 2016, Pages 191-197

  Vanacore, Nicola ^a   Rastelli, Emanuele ^b   Antonini, Giovanni ^g   Bianchi, Maria Laura Ester ^c   Botta, Annalisa ^b   Bucci, Elisabetta ^g   Casali, Carlo ^h   Costanzi Porrini, Sandro ^d,i   Giacanelli, Manlio ^d   Gibellini, Manuela ^b   Modoni, Anna ^c   Novelli, Giuseppe ^b   Pennisi, Elena Maria ^e   Petrucci, Antonio ^d   Piantadosi, Carlo ^f   Silvestri, Gabriella ^c   Terracciano, Chiara ^b   Massa, Roberto ^b  

^a ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

^c CATHOLIC UNIVERSITY   (Italy)

^d S Camillo Forlanini Hospital   (Italy)

^e SAN FILIPPO NERI HOSPITAL   (Italy)

^f Vincenzo Pansodoro Foundation   (Italy)

^g S Andrea Hospital   (Italy)

^h Department of Medico Surgical Sciences and Biotechnologies ^*  (Italy)

ⁱ SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Age standardized; Epidemiology; Myotonic dystrophy type 1; Myotonic dystrophy type 2; Prevalence ? Italy

Indexed keywords

ADOLESCENT; ADULT; AGE DISTRIBUTION; AGED; ARTICLE; CHILD; FEMALE; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; ITALY; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MOLECULAR DIAGNOSIS; MYOTONIC DYSTROPHY; NON INSULIN DEPENDENT DIABETES MELLITUS; PREVALENCE; RESIDENTIAL AREA; SEX RATIO; STANDARDIZATION; VERY ELDERLY; COHORT ANALYSIS; INFANT; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; AGE DISTRIBUTION; AGED; AGED, 80 AND OVER; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; HUMANS; INFANT; ITALY; MALE; MIDDLE AGED; MYOTONIC DYSTROPHY; PREVALENCE; ROME; SEX DISTRIBUTION; YOUNG ADULT;

EID: 84958818835     PISSN: 02515350     EISSN: 14230208     Source Type: Journal    
DOI: 10.1159/000444018     Document Type: Article

References (35)

1. Ranum LP, Day JW: Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2. Curr Neurol Neurosci Rep 2002; 2: 465-470.
2. Day JW, Ricker K, Jacobsen JF, et al: Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology 2003; 60: 657-664.
3. Pisani V, Panico MB, Terracciano C, et al: Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2. Muscle Nerve 2008; 38: 1405-1411.
4. Harper PS: Myotonic Dystrophy, ed 3. London, WB Saunders, 2001.
5. Massa R, Vanacore N: Epidemiology of myotonic dystrophy in the molecular era: implications for clinical trials and association studies; in Jenkins S (ed): Myotonic Dystrophies: Epidemiology, Diagnosis and Therapeutic Challenges. Hauppauge, Nova Science Publishers, 2015, pp 1-12.
6. 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.
7. Udd B, Meola G, Krahe R, et al: Report of the 115th ENMC workshop: DM2/PROMM and other myotonic dystrophies. 3rd workshop, 14-16 February 2003, Naarden, The Netherlands. Neuromuscul Disord 2003; 13: 589-596.
8. Suominen T, Bachinski LL, 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.
9. Vandenbroucke JP, von Elm E, Altman DG, et al: Strengthening the reporting of observational studies in epidemiology (STROBE): explanation and elaboration. Epidemiology 2007; 18: 805-835.
10. Khoury MJ, Gwinn M, Clyne M, Yu W: Genetic epidemiology with a capital E, ten years after. Genet Epidemiol 2011; 35: 845-852.
11. Massa R, Bucci E, Bianchi M, et al: A Roman network for the myotonic dystrophies: startup and construction of a patients' database. Neurol Sci 2012; 33(suppl):S389.
12. Moxley RT 3rd: 54th ENMC international workshop: PROMM (proximal myotonic myopathies) and other proximal myotonic syndromes. 10-12th October 1997, Naarden, the Netherlands. Neuromuscul Disord 1998; 8: 508-518.
13. Fokstuen S, Myring J, Evans C, et al: Presymptomatic testing in myotonic dystrophy: genetic counselling approaches. J Med Genet 2001; 38: 846-850.
14. Botta A, Bonifazi E, Vallo L, et al: Italian guidelines for molecular analysis in myotonic dystrophies. Acta Myol 2006; 25: 23-33.
15. 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: 84-90.
16. Schoenberg BS: Calculating confidence intervals for rates and ratios. Simplified method utilizing tabular values based on the Poisson distribution. Neuroepidemiology 1983; 2: 257-265.
17. Patruno V, Venturi M, Roberto S: http://demo.istat.it (accessed October 1, 2014).
18. http://ec.europa.eu/eurostat/statistics explained/index.php/Population statistics-at-regional-level/it (accessed August 19, 2015).
19. http://www.who.int/healthinfo/global-b u r d e n-d i s e a s e/G H E-D A L Y-Global-2000-2012. xls (accessed August 19, 2015).
20. López de Munain A, Blanco A, Emparanza JI, et al: Prevalence of myotonic dystrophy in Guipúzcoa (Basque Country, Spain). Neurology 1993; 43: 1573-1576.
21. Hsiao KM, Chen SS, Li SY, et al: Epidemiological and genetic studies of myotonic dystrophy type 1 in Taiwan. Neuroepidemiology 2003; 22: 283-289.
22. Ford C, Kidd A, Hammond-Tooke G: Myotonic dystrophy in Otago, New Zealand. N Z Med J 2006; 119:U2145.
23. Mladenovic J, Pekmezovic T, Todorovic S, et al: Epidemiology of myotonic dystrophy type 1 (Steinert disease) in Belgrade (Serbia). Clin Neurol Neurosurg 2006; 108: 757-760.
24. Norwood FL, Harling C, Chinnery PF, et al: Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain 2009; 132(pt 11):3175-3186.
25. Mathieu J, Prévost C: Epidemiological surveillance of myotonic dystrophy type 1: A 25-year population-based study. Neuromuscul Disord 2012; 22: 974-979.
26. Theadom A, Rodrigues M, Roxburgh R, et al: Prevalence of muscular dystrophies: A systematic literature review. Neuroepidemiology 2014; 43: 259-268.
27. Brunner HG, Brüggenwirth HT, Nillesen W, et al: Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM). Am J Hum Genet 1993; 53: 1016-1023.
28. Schoser BG, Schneider-Gold C, Kress W, et al: Muscle pathology in 57 patients with myotonic dystrophy type 2. Muscle Nerve 2004; 29: 275-281.
29. Hilbert JE, Ashizawa T, Day JW, et al: Diagnostic odyssey of patients with myotonic dystrophy. J Neurol 2013; 260: 2497-2504.
30. Auvinen S, Suominen T, Hannonen P, et al: Myotonic dystrophy type 2 found in two of sixty-three persons diagnosed as having fibromyalgia. Arthritis Rheum 2008; 58: 3627-3631.
31. Merlini L, Sabatelli P, Columbaro M, et al: Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2. Muscle Nerve 2005; 31: 764-767.
32. Thompson R, Schoser B, Monckton DG, et al: Patient registries and trial readiness in myotonic dystrophy-TREAT-NMD/marigold international workshop report. Neuromuscul Disord 2009; 19: 860-866.
33. Hilbert JE, Kissel JT, Luebbe EA, et al: 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.
34. Orth M, Handley OJ, Schwenke C, et al: Observing Huntington's disease: The European Huntington's disease network's REGISTRY. Version 2. PLoS Curr 2010; 2:RRN1184.
35. Gadalla SM, Lund M, Pfeiffer RM, et al: Cancer risk among patients with myotonic muscular dystrophy. JAMA 2011; 306: 2480-2486.