Spinal muscular atrophy. Incidence in Iceland
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field Spinal muscular atrophy (SMA) is among the commonest degenerative disorders of the nervous system in childhood. This is an inherited autosomal recessive disease which results in premature d...
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S. Karger
2010
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Online Access: | http://hdl.handle.net/2336/108716 https://doi.org/10.1159/000026221 |
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ftlandspitaliuni:oai:www.hirsla.lsh.is:2336/108716 2023-05-15T16:46:18+02:00 Spinal muscular atrophy. Incidence in Iceland Ludvigsson, P Olafsson, E Hauser, W A Department of Pediatrics, Reykjavik, Iceland. peturl@rsp.is 2010-07-30 http://hdl.handle.net/2336/108716 https://doi.org/10.1159/000026221 en eng S. Karger http://dx.doi.org/10.1159/000026221 Neuroepidemiology 1999, 18(5):265-9 0251-5350 10461052 doi:10.1159/000026221 http://hdl.handle.net/2336/108716 Neuroepidemiology Adolescent Child Preschool Chromosome Aberrations Chromosome Disorders Cross-Cultural Comparison Cross-Sectional Studies Female Genes Recessive Genetic Testing Genetics Population Humans Iceland Incidence Infant Newborn Male Spinal Muscular Atrophies of Childhood Article 2010 ftlandspitaliuni https://doi.org/10.1159/000026221 2022-05-29T08:21:34Z To access publisher full text version of this article. Please click on the hyperlink in Additional Links field Spinal muscular atrophy (SMA) is among the commonest degenerative disorders of the nervous system in childhood. This is an inherited autosomal recessive disease which results in premature death of anterior horn cells of the spinal cord and is manifested by progressive weakness and atrophy of skeletal muscles. Few studies have looked at the frequency of the disease in a defined population. We identified all patients diagnosed with SMA in Iceland during a 15-year period. The diagnosis is based on typical symptoms and supported by results of electromyography/nerve conduction studies and muscle biopsy. The average annual incidence was 13.7 per 100,000 live births for all types of SMA, which is similar to that reported in other population-based studies. Article in Journal/Newspaper Iceland Hirsla - Landspítali University Hospital research archive Neuroepidemiology 18 5 265 269 |
institution |
Open Polar |
collection |
Hirsla - Landspítali University Hospital research archive |
op_collection_id |
ftlandspitaliuni |
language |
English |
topic |
Adolescent Child Preschool Chromosome Aberrations Chromosome Disorders Cross-Cultural Comparison Cross-Sectional Studies Female Genes Recessive Genetic Testing Genetics Population Humans Iceland Incidence Infant Newborn Male Spinal Muscular Atrophies of Childhood |
spellingShingle |
Adolescent Child Preschool Chromosome Aberrations Chromosome Disorders Cross-Cultural Comparison Cross-Sectional Studies Female Genes Recessive Genetic Testing Genetics Population Humans Iceland Incidence Infant Newborn Male Spinal Muscular Atrophies of Childhood Ludvigsson, P Olafsson, E Hauser, W A Spinal muscular atrophy. Incidence in Iceland |
topic_facet |
Adolescent Child Preschool Chromosome Aberrations Chromosome Disorders Cross-Cultural Comparison Cross-Sectional Studies Female Genes Recessive Genetic Testing Genetics Population Humans Iceland Incidence Infant Newborn Male Spinal Muscular Atrophies of Childhood |
description |
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field Spinal muscular atrophy (SMA) is among the commonest degenerative disorders of the nervous system in childhood. This is an inherited autosomal recessive disease which results in premature death of anterior horn cells of the spinal cord and is manifested by progressive weakness and atrophy of skeletal muscles. Few studies have looked at the frequency of the disease in a defined population. We identified all patients diagnosed with SMA in Iceland during a 15-year period. The diagnosis is based on typical symptoms and supported by results of electromyography/nerve conduction studies and muscle biopsy. The average annual incidence was 13.7 per 100,000 live births for all types of SMA, which is similar to that reported in other population-based studies. |
author2 |
Department of Pediatrics, Reykjavik, Iceland. peturl@rsp.is |
format |
Article in Journal/Newspaper |
author |
Ludvigsson, P Olafsson, E Hauser, W A |
author_facet |
Ludvigsson, P Olafsson, E Hauser, W A |
author_sort |
Ludvigsson, P |
title |
Spinal muscular atrophy. Incidence in Iceland |
title_short |
Spinal muscular atrophy. Incidence in Iceland |
title_full |
Spinal muscular atrophy. Incidence in Iceland |
title_fullStr |
Spinal muscular atrophy. Incidence in Iceland |
title_full_unstemmed |
Spinal muscular atrophy. Incidence in Iceland |
title_sort |
spinal muscular atrophy. incidence in iceland |
publisher |
S. Karger |
publishDate |
2010 |
url |
http://hdl.handle.net/2336/108716 https://doi.org/10.1159/000026221 |
genre |
Iceland |
genre_facet |
Iceland |
op_relation |
http://dx.doi.org/10.1159/000026221 Neuroepidemiology 1999, 18(5):265-9 0251-5350 10461052 doi:10.1159/000026221 http://hdl.handle.net/2336/108716 Neuroepidemiology |
op_doi |
https://doi.org/10.1159/000026221 |
container_title |
Neuroepidemiology |
container_volume |
18 |
container_issue |
5 |
container_start_page |
265 |
op_container_end_page |
269 |
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1766036405067186176 |