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

Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor neuron degeneration and variable presentation in relation to onset and severity. A prevalence of approximately 1-2 per 100,000...

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Bibliographic Details
Published in:	Orphanet journal of rare diseases Vol. 12; no. 1; p. 124
Main Authors:	Verhaart, Ingrid E C, Robertson, Agata, Wilson, Ian J, Aartsma-Rus, Annemieke, Cameron, Shona, Jones, Cynthia C, Cook, Suzanne F, Lochmüller, Hanns
Format:	Journal Article
Language:	English
Published:	England BioMed Central Ltd 04-07-2017 BioMed Central BMC
Subjects:	Adults Age Apoptosis Carrier frequency Chromosome 5 Chromosomes, Human, Pair 5 - genetics Degeneration Epidemiology Ethnic background Female Genes Genetic aspects Genetic counseling Genetic screening Genotype & phenotype Hereditary diseases Humans Incidence Literature reviews Male Medical research Motor task performance Muscular Atrophy, Spinal - epidemiology Muscular Atrophy, Spinal - ethnology Mutation Neuromuscular diseases Population Population genetics Population studies Prevalence Prevalence studies (Epidemiology) Proteins Rare diseases Review Risk factors SMN protein Spinal cord Spinal muscular atrophy Studies Survival of Motor Neuron 1 Protein - genetics Eastern Europe Prevalence Carrier frequency Ethnic background Incidence Spinal muscular atrophy
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