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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2019

Open Access 01-12-2019 | Myotonic Dystrophy | Research

Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region

Authors: Inmaculada Pagola-Lorz, Esther Vicente, Berta Ibáñez, Laura Torné, Itsaso Elizalde-Beiras, Virginia Garcia-Solaesa, Fermín García, Josu Delfrade, Ivonne Jericó

Published in: Orphanet Journal of Rare Diseases | Issue 1/2019

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Abstract

Background

Inherited muscle diseases are a group of rare heterogeneous muscle conditions with great impact on quality of life, for which variable prevalence has previously been reported, probably due to case selection bias. The aim of this study is to estimate the overall and selective prevalence rates of inherited muscle diseases in a northern Spanish region and to describe their demographic and genetic features. Retrospective identification of patients with inherited muscle diseases between 2000 and 2015 from multiple data sources. Demographic and molecular data were registered.

Results

On January 1, 2016, the overall prevalence of inherited muscle diseases was 59.00/ 100,000 inhabitants (CI 95%; 53.35–65.26). Prevalence was significantly greater in men (67.33/100,000) in comparison to women (50.80/100,000) (p = 0.006). The highest value was seen in the age range between 45 and 54 (91.32/100,000) years. Myotonic dystrophy type 1 was the most common condition (35.90/100,000), followed by facioscapulohumeral muscular dystrophy (5.15/100,000) and limb-girdle muscular dystrophy type 2A (2.5/100,000).

Conclusions

Prevalence of inherited muscle diseases in Navarre is high in comparison with the data reported for other geographical regions. Standard procedures and analyses of multiple data sources are needed for epidemiological studies of this heterogeneous group of diseases.
Literature
1.
2.
D’Angelo MG, Bresolin N. Report of the 95th European neuromuscular Centre (ENMC) sponsored international workshop cognitive impairment in neuromuscular disorders, Naarden, the Netherlands, 13-15 July 2001. Neuromuscul Disord. 2003;13:72–9.PubMedCrossRef
3.
Boyer F, Drame M, Morrone I, Novella J-L. Factors relating to carer burden for families of persons with muscular dystrophy. J Rehabil Med. 2006;38:309–15.PubMedCrossRef
4.
Lefter S, Hardiman O, Ryan AM. A population-based epidemiologic study of adult neuromuscular disease in the Republic of Ireland. Neurology. 2017;88:304–13.PubMedCrossRef
5.
Theadom A, Rodrigues M, Poke G, O’Grady G, Love D, Hammond-Tooke G, et al. A Nationwide, population-based prevalence study of genetic muscle disorders. Neuroepidemiology. 2019;52:128–35.PubMedPubMedCentralCrossRef
6.
Norwood FLM, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V. Prevalence of genetic muscle disease in northern England: in-depth analysis of a muscle clinic population. Brain. 2009;132:3175–86.PubMedPubMedCentralCrossRef
7.
Hughes MI, Hicks EM, Nevin NCPV. The prevalence of inherited neuromuscular disease in Northern Ireland. Neuromuscul Disord. 1996;6:69–73.PubMedCrossRef
8.
Araki S, Uchino M, Kumamoto T. Prevalence studies of multiple sclerosis, myasthenia gravis, and myopathies in Kumamoto district. Japan Neuroepidemiology. 1987;6:120–9.PubMedCrossRef
9.
Darin N, Tulinius M. Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden. Neuromuscul Disord. 2000;10:1–9.PubMedCrossRef
10.
Chung B, Wong V, Ip P. Prevalence of neuromuscular diseases in Chinese children: a study in southern China. J Child Neurol. 2003;18:217–9.PubMedCrossRef
11.
El-Tallawy HN, Khedr EM, Qayed MH, Helliwell TR, Kamel NF. Epidemiological study of muscular disorders in Assiut. Egypt Neuroepidemiology. 2005;25:205–11.PubMedCrossRef
12.
Tangsrud SE, Halvorsen S. Child neuromuscular disease in southern Norway. Prevalence, age and distribution of diagnosis with special reference to "non-Duchenne muscular dystrophy". Clin Genet. 1988;34(3):145–52.PubMedCrossRef
13.
14.
Ahlström G, Gunnarsson LG, Leissner P, Sjödén PO. Epidemiology of neuromuscular diseases, including the postpolio sequelae, in a Swedish county. Neuroepidemiology. 1993;12:262–9.PubMedCrossRef
15.
Theadom A, Rodrigues M, Roxburgh R, Balalla S, Higgins C, Bhattacharjee R, et al. Prevalence of muscular dystrophies: a systematic literature review. Neuroepidemiology. 2014;43:259–68.PubMedCrossRef
16.
López de Munain A, Blanco A, Emparanza JI, Poza JJ, Martí Massó JF, Cobo A, et al. Prevalence of myotonic dystrophy in Guipúzcoa (Basque Country, Spain). Neurology. 1993;43:1573–6.PubMedCrossRef
17.
Urtasun M, Sáenz A, Roudaut C, Poza JJ, Urtizberea JA, Cobo AM, et al. Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain). Brain. 1998;121:1735–47.PubMedCrossRef
18.
Burcet J, Cañellas F, Cavaller G, Vich M. Epidemiologic study of myotonic dystrophy on the island of Mallorca. Neurologia. 1992;7:61–4.PubMed
19.
Arpa J, Cruz-Martínez A, Campos Y, Gutiérrez-Molina M, García-Rio F, Pérez-Conde C, et al. Prevalence and progression of mitochondrial diseases: a study of 50 patients. Muscle Nerve. 2003;28:690–5.PubMedCrossRef
20.
21.
22.
23.
Bonne G, Rivier F, Hamroun D. The 2018 version of the gene table of monogenic neuromuscular disorders (nuclear genome). Neuromuscul Disord. 2017;27:1152–83.PubMedCrossRef
24.
Harris E, Laval S, Hudson J, Barresi R, De Waele L, Straub V, et al. Undiagnosed genetic muscle disease in the north of England: an in depth phenotype analysis. PLoS Curr. 2013;5.
25.
Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, et al. Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord. 2014;24:289–311.PubMedPubMedCentralCrossRef
26.
McARDLE B. Myopathy due to a defect in muscle glycogen breakdown. Clin Sci. 1951;10:13–35.PubMed
27.
28.
29.
Tajsharghi H, Thornell L-E, Lindberg C, Lindvall B, Henriksson K-G, Oldfors A. Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. Ann Neurol. 2003;54:494–500.PubMedCrossRef
30.
Wallgren-Pettersson C, Sewry CA, Nowak KJ, Laing NG. Nemaline myopathies. Semin Pediatr Neurol. 2011;18:230–8.PubMedCrossRef
31.
Clarke NF, North KN. Congenital fiber type disproportion--30 years on. J Neuropathol Exp Neurol. 2003;62:977–89.PubMedCrossRef
32.
33.
Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, et al. A unifying genetic model for facioscapulohumeral muscular dystrophy. Science. 2010;329(5999):1650–3.PubMedPubMedCentralCrossRef
34.
Fernández-Navarro P, López-Abente G, Salido-Campos C, Sanz-Anquela JM. The minimum basic data set (MBDS) as a tool for cancer epidemiological surveillance. Eur J Intern Med. 2016;34:94–7.PubMedCrossRef
35.
Esteban-Vasallo MD, Domínguez-Berjón MF, Astray-Mochales J, Gènova-Maleras R, Pérez-Sania A, Sánchez-Perruca L, et al. Epidemiological usefulness of population-based electronic clinical records in primary care: estimation of the prevalence of chronic diseases. Fam Pract. 2009;26:445–54.PubMedCrossRef
36.
37.
Kinsner-Ovaskainen A, Lanzoni M, Garne E, Loane M, Morris J, Neville A, et al. A sustainable solution for the activities of the European network for surveillance of congenital anomalies: EUROCAT as part of the EU platform on rare diseases registration. Eur J Med Genet. 2018;61:513–7.PubMedCrossRef
38.
Floristán Floristán Y, Delfrade Osinaga J, Carrillo Prieto J, Aguirre Perez J, Moreno-Iribas C. Coding causes of death with IRIS software. Impact in Navarre mortality statistic. Rev Esp Salud Publica. 2016;90:e1–9.PubMed
39.
40.
41.
42.
Merlini L, Stagni SB, Marri E, Granata C. Epidemiology of neuromuscular disorders in the under-20 population in Bologna Province. Italy Neuromuscul Disord. 1992;2:197–200.PubMedCrossRef
43.
Ballo R, Viljoen D, Beighton P. Duchenne and Becker muscular dystrophy prevalence in South Africa and molecular findings in 128 persons affected. S Afr Med J. 1994;84:494–7.PubMed
44.
Emery AE. Population frequencies of inherited neuromuscular diseases-a world survey. Neuromuscul Disord. 1991;1:19–29.PubMedCrossRef
45.
Mathieu J, Prévost C. Epidemiological surveillance of myotonic dystrophy type 1: a 25-year population-based study. Neuromuscul Disord. 2012;22:974–9.PubMedCrossRef
46.
Fardeau M, Hillaire D, Mignard C, Feingold N, Feingold J, Mignard D, et al. Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island. Brain. 1996;119:295–308.PubMedCrossRef
47.
Mah JK, Korngut L, Dykeman J, Day L, Pringsheim T, Jette N. A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy. Neuromuscul Disord. 2014;24:482–91.PubMedCrossRef
48.
Siciliano G, Tessa A, Renna M, Manca ML, Mancuso M, Murri L. Epidemiology of dystrophinopathies in North-West Tuscany: a molecular genetics-based revisitation. Clin Genet. 1999;56:51–8.PubMedCrossRef
49.
Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Brumbaugh D, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018;17(3):251–67.PubMedPubMedCentralCrossRef
Metadata
Title
Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region
Authors
Inmaculada Pagola-Lorz
Esther Vicente
Berta Ibáñez
Laura Torné
Itsaso Elizalde-Beiras
Virginia Garcia-Solaesa
Fermín García
Josu Delfrade
Ivonne Jericó
Publication date
01-12-2019

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