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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Bibliographic Details
Published in:Neuroepidemiology
Main Authors: Ludvigsson, P, Olafsson, E, Hauser, W A
Other Authors: Department of Pediatrics, Reykjavik, Iceland. peturl@rsp.is
Format: Article in Journal/Newspaper
Language:English
Published: S. Karger 2010
Subjects:
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
Online Access:http://hdl.handle.net/2336/108716
https://doi.org/10.1159/000026221
Description
Summary: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.

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