Population data on acute infantile and chronic childhood spinal muscular atrophy in Warsaw

Spiegler, Aribert W. J.; Hausmanowa-Pétrusewicz, I; Borkowska, Julita; Kłopocka, Anna

doi:10.1007/bf00193198

Cited by 22 publications

(13 citation statements)

References 22 publications

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“…The prevalence data obtained in the present study are in good agreement with those obtained in Denmark [3], Canada [4], Switzerland [5], northeastern England [6,7] and Poland [8], as shown in table 4. However, a slight underestimation of the prevalence of cases of SMA type I in the present study is very likely, since some babies may have died shortly after birth, before being unequivocally diagnosed.…”

Section: Discussionsupporting

confidence: 80%

Epidemiology of Spinal Muscular Atrophies in a Sample of the Italian Population

et al. 1992

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In the course of an epidemiological survey in four provinces of Veneto (northeastern Italy) 67 spinal muscular atrophy (SMA) cases (types I, II and III) were recorded. The survey spanned the period 1960–1983 and involved 859,891 consecutive live-born infants in a population of 2,635,800 inhabitants. The overall prevalence at birth for SMA types I, II and IIIwas 7.8/100,000 live births. Type I alone accounted for 4.1/100,000 live births. If the hypothesis that SMA types I, II and III are clinical manifestations of allelic mutations is assumed, the mutation rate would be about 70 X 10^–6 and the frequency of the heterozygotes 1 in 57.

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Section: Discussionsupporting

confidence: 80%

Epidemiology of Spinal Muscular Atrophies in a Sample of the Italian Population

et al. 1992

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“…To estimate the incidence of SMA, we selected new cases from the study group only, i.e. all pa- Spiegler et al [10] the present paper…”

Section: Results Of the Molecular Testing For Sma Carried Out 1998-2005mentioning

confidence: 99%

“…The estimated incidence of SMA varies among populations (from 1 per 400 to 1 per 20,000), but the most commonly reported range is 1 per 7,000-10,000 births ( table 1 ) [1][2][3][4][5][6][7][8][9][10] . The disease is characterized by symmetrical muscular weakness and atrophy associated with degeneration of the lower motor neurons.…”

Section: Introductionmentioning

confidence: 99%

Incidence of Spinal Muscular Atrophy in Poland – More Frequent than Predicted?

Jędrzejowska¹,

Milewski²,

Zimowski³

et al. 2010

Neuroepidemiology

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Background: The application of molecular methods has enhanced and enlarged the diagnostics of spinal muscular atrophy (SMA) and its carriership. It allows for reliable epidemiological studies which are of importance to demography and genetic counseling. Methods: This study sought to evaluate the incidence of SMA in Poland, on the basis of the prevalence of the SMN1 gene deletion carrier state in the general population, as well as an analysis of all cases of SMA diagnosed in the years 1998–2005. Results: The prevalence of the SMN1 gene deletion carrier state was estimated at 1 per 35 persons (17/600), yielding an incidence of SMA equal to 1 per 4,900. By contrast, the incidence of SMA based on the results of the meta-analysis was an estimated 1 per 7,127 in Warsaw and 1 per 9,320 persons across Poland, suggesting that some cases of SMA remain undiagnosed. SMA1 predominated among the diagnoses, accounting for 69% of all cases. Conclusion: A high prevalence of the SMN1 deletion carrier state in the general population indicates that SMA could be a more frequent disease than is predicted by the epidemiological data regarding diagnosed cases.

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“…It is similar to the results from Hungary of 1: 15,152 live births [13] . However, even lower incidence rates have been found in Poland (1: 19,474 live births) [14] , England (1: 25,708 live births) [15] , and Italy (4.1: 100,000 live births) [16] . In Europe, higher rates of SMA have been reported in Northern Finland (1: 7,100 live births) and Slovakia (1: 5,600 live births) [17] .…”

Section: Discussionmentioning

confidence: 99%

Descriptive Epidemiology of Spinal Muscular Atrophy Type I in Estonia

et al. 2006

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Spinal muscular atrophy is the second most frequent autosomal-recessive disorder in Europeans. There are no published epidemiological data on SMA in Estonia and other Baltic countries. The aim of this study was to estimate the incidence of SMA I in Estonia. All patients with SMA I diagnosed between January 1994 and December 2003 were included in the study. The diagnosis was established on the basis of neurological evaluation, ENMG findings, molecular studies and muscle biopsy. PCR and restriction enzyme analysis was used to detect the homozygous deletion of the SMN1 gene. A total of 9 cases of SMA I were identified during this 10-year period. The incidence of SMA I in Estonia is 1 in 14,400 live births, which is similar to the result from Hungary but lower than average incidence in the world. Only one of the patients was female. Typical SMN1 gene deletion was found in all cases.

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Population data on acute infantile and chronic childhood spinal muscular atrophy in Warsaw

Cited by 22 publications

References 22 publications

Epidemiology of Spinal Muscular Atrophies in a Sample of the Italian Population

Epidemiology of Spinal Muscular Atrophies in a Sample of the Italian Population

Incidence of Spinal Muscular Atrophy in Poland – More Frequent than Predicted?

Descriptive Epidemiology of Spinal Muscular Atrophy Type I in Estonia

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