The Epidemiology of Myotonic Dystrophy in Northern Ireland

Magee, Alex; Nevin, N. C.

doi:10.1159/000016209

Cited by 12 publications

(15 citation statements)

References 16 publications

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“…The included studies presented data on the prevalence of muscular dystrophies collected between 1966 and 2013. There were ten studies conducted in Italy [16,17,18,19,20,21,22,23,24,25], seven from the United Kingdom [26,27,28,29,30,31,32], three in Japan [33,34,35], two in Sweden [36,37], and Canada [38,39], and one from China [40], Croatia [41], Egypt [42], Libya [43], Netherlands [44], New Zealand [45], Norway [46], Portugal [47], Russia [48], Slovenia [49], South Africa [50], Spain [51], Taiwan [52], and the United States [53]. …”

Section: Resultsmentioning

confidence: 99%

“…For the separate conditions, there were eight studies from four different countries that explored the prevalence of Duchenne [16,22,26,28,32,38,49,54] and seven from four countries for Becker [22,26,28,32,38,49,54]. A further seven studies from five more ethnically diverse countries looked at myotonic dystrophy [23,26,30,32,41,45,52]; three studies from two countries studied facioscapulohumeral [20,26,32]; three studies from two countries studied limb-girdle [18,26,32], two studies from two countries reported on Emery-Dreifuss [26,32], two studies from two countries [26,32] reported on manifesting carriers, and one study reported on oculopharyngeal [26] and congenital muscular dystrophy [32]. …”

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

Prevalence of Muscular Dystrophies: A Systematic Literature Review

Theadom

Rodrigues²,

Roxburgh³

et al. 2014

Neuroepidemiology

1,441

150

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Background: Determiningtheprevalence of neuromuscular disorders for the general population is important to identify the scope of burden on society and enable comparisons with other health conditions. This systematic review aims to identify and collate the findings of studies published between 1960 and 2013 on the prevalence of all types of muscular dystrophies. Summary: Relevant articles were identified through electronic database searches and manual searches of reference lists. There were 38 articles from across 19 countries that met the inclusion criteria. The total combined prevalence for all muscular dystrophies for studies classified as having a low risk of bias ranged between 19.8 and 25.1 per 100,000 person-years. Myotonic dystrophy (0.5-18.1 per 100,000), Duchenne muscular dystrophy (1.7-4.2) and facioscapulohumeral muscular dystrophy (3.2-4.6 per 100,000) were found to be the most common types of disorder. There was wide variation in study methodology, case ascertainment, and verification procedures and populations studied, all of which may contribute to the wide prevalence range, in addition to the likely variation in prevalence by country. Key Messages: Greater consistency in the conduct and reporting of neuroepidemiological studies is urgently needed to enable comparisons to be made between studies, countries, and over time.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Prevalence of Muscular Dystrophies: A Systematic Literature Review

Theadom

Rodrigues²,

Roxburgh³

et al. 2014

Neuroepidemiology

1,441

150

View full text Add to dashboard Cite

show abstract

“…10 As the advent of molecular genetic testing for DM1, several prevalence studies have been reported, [11][12][13][14][15]17 but so far no large-scale population studies have been performed. Most of the reported studies were based on the number of diagnosed patients related to the corresponding total population in a certain region.…”

Section: Discussionmentioning

confidence: 99%

“…As this estimate is likely based mostly on more severely affected DM1 patients, DM1 is considered to be the most frequent muscular dystrophy in adults. 10 However, in different populations prevalence estimates vary widely: In an Italian population from the regions around Padova and Northwest Tuscany, a prevalence of 9.31 per 100 000 inhabitants was reported, 11 whereas a slightly higher prevalence (11.95 per 100 000) was reported in Northern Ireland, 12 and lower in Belgrade (Serbia) (5.3 per 100 000). 13 In Jewish communities, an average prevalence of 15.7 per 100 000 was reported in a study including 416 DM1 patients of which 307 were diagnosed genetically and 109 were clinically diagnosed.…”

Section: Introductionmentioning

confidence: 99%

Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

et al. 2011

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Myotonic dystrophy (DM) is the most common adult-onset muscular dystrophy with an estimated prevalence of 1/8000. There are two genetically distinct types, DM1 and DM2. DM2 is generally milder with more phenotypic variability than the classic DM1. Our previous data on co-segregation of heterozygous recessive CLCN1 mutations in DM2 patients indicated a higher than expected DM2 prevalence. The aim of this study was to determine the DM2 and DM1 frequency in the general population, and to explore whether the DM2 mutation functions as a modifier in other neuromuscular diseases (NMD) to account for unexplained phenotypic variability. We genotyped 5535 Finnish individuals: 4532 normal blood donors, 606 patients with various non-myotonic NMD, 221 tibial muscular dystrophy patients and their 176 healthy relatives for the DM2 and DM1 mutations. We also genotyped an Italian idiopathic non-myotonic proximal myopathy cohort (n¼93) for the DM2 mutation. In 5496 samples analyzed for DM2, we found three DM2 mutations and two premutations. In 5511 samples analyzed for DM1, we found two DM1 mutations and two premutations. In the Italian cohort, we identified one patient with a DM2 mutation. We conclude that the DM2 mutation frequency is significantly higher in the general population (1/1830; P-value¼0.0326) than previously estimated. The identification of DM2 mutations in NMD patients with clinical phenotypes not previously associated with DM2 is of particular interest and is in accord with the high overall prevalence. On the basis of our results, DM2 appears more frequent than DM1, with most DM2 patients currently undiagnosed with symptoms frequently occurring in the elderly population.

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“…La prevalencia varía entre 1 en 7.400 a 1 en 10.700 [1][2][3] , pero la proporción exacta entre DM1 y 2 es desconocida. La DM1 es una patología autosómica dominante más frecuente en población caucásica y es producida por una expansión del trinucléotido CTG en la región del gen de la DMPK (Dystrophia Myotonica Protein Kinase) en el cromosoma 19q 13.3.…”

Section: Discussionunclassified

Taquicardia ventricular como expresión de Distrofia Miotónica tipo 1

et al. 2017

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A 48-year-old woman was brought to the emergency room with ventricular tachycardia that was eventually terminated by cardioversion. Clinical and neurologic evaluation, including electro-myography were highly suggestive of type I Myotonic Dystrophy and genetical studies confirmed the diagnosis. A discussion about the diagnostic procedures and management of the disease, especially the associated ventricular tachycardia, is included.

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The Epidemiology of Myotonic Dystrophy in Northern Ireland

Cited by 12 publications

References 16 publications

Prevalence of Muscular Dystrophies: A Systematic Literature Review

Prevalence of Muscular Dystrophies: A Systematic Literature Review

Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

Taquicardia ventricular como expresión de Distrofia Miotónica tipo 1

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