Literature DB >> 1785637

Prevalence of type I spinal muscular atrophy in North Dakota.

L Burd1, S K Short, J T Martsolf, R A Nelson.   

Abstract

In order to establish the incidence and prevalence of type I spinal muscular atrophy (SMA Werdnig-Hoffmann disease) in North Dakota, we reviewed the death certificates for the past 8 years. Between 1980 and 1987 the prevalence of was 1.5 per 10,000. The incidence was 1 in 6,720. This suggests a carrier frequency of 1 in 41 in North Dakota with a gene frequency of 0.0122. In North Dakota, type I spinal muscular atrophy appears to be 3 to 10 times more common than in other locations.

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Mesh：

Year:  1991        PMID： 1785637     DOI： 10.1002/ajmg.1320410216

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  6 in total

1.  Alpha-synuclein loss in spinal muscular atrophy.

Authors:  Gyula Acsadi; Xingli Li; Kelley J Murphy; Kathryn J Swoboda; Graham C Parker
Journal:  J Mol Neurosci       Date:  2010-07-17       Impact factor: 3.444

2.  The PedsQL in pediatric patients with Spinal Muscular Atrophy: feasibility, reliability, and validity of the Pediatric Quality of Life Inventory Generic Core Scales and Neuromuscular Module.

Authors:  Susan T Iannaccone; Linda S Hynan; Anne Morton; Renee Buchanan; Christine A Limbers; James W Varni
Journal:  Neuromuscul Disord       Date:  2009-10-28       Impact factor: 4.296

3.  Proteomic profile of embryonic stem cells with low survival motor neuron protein is consistent with developmental dysfunction.

Authors:  Graham C Parker; Nicholas J Carruthers; Theresa Gratsch; Joseph A Caruso; Paul M Stemmer
Journal:  J Neural Transm (Vienna)       Date:  2016-05-05       Impact factor: 3.575

4.  Vitamin D intake is inadequate in spinal muscular atrophy type I cohort: correlations with bone health.

Authors:  Jennifer Aton; Rebecca Hurst Davis; Kristine C Jordan; Charles B Scott; Kathryn J Swoboda
Journal:  J Child Neurol       Date:  2013-01-17       Impact factor: 1.987

5.  Possible implication of undescribed SMN1-SMN2 genotype in chronic EMG-pattern of SMA with transitory acute denervation.

Authors:  Girolamo A Vitello; Francesco Calì; Mirella Vinci; Carmela Scuderi; Francesca L'Episcopo; Antonino Musumeci; Sebastiano A Musumeci; Antonio G Nicotera
Journal:  J Musculoskelet Neuronal Interact       Date:  2020-12-01       Impact factor: 2.041

Review 6.  Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.

Authors:  Ingrid E C Verhaart; Agata Robertson; Ian J Wilson; Annemieke Aartsma-Rus; Shona Cameron; Cynthia C Jones; Suzanne F Cook; Hanns Lochmüller
Journal:  Orphanet J Rare Dis       Date:  2017-07-04       Impact factor: 4.123
  6 in total

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