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Open Access 01-12-2017 | Review

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

Published in: Orphanet Journal of Rare Diseases | Issue 1/2017

Abstract

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 persons and incidence around 1 in 10,000 live births have been estimated with SMA type I accounting for around 60% of all cases. Since SMA is a relatively rare condition, studies of its prevalence and incidence are challenging. Most published studies are outdated and therefore rely on clinical rather than genetic diagnosis. Furthermore they are performed in small cohorts in small geographical regions and only study European populations. In addition, the heterogeneity of the condition can lead to delays and difficulties in diagnosing the condition, especially outside of specialist clinics, and contributes to the challenges in understanding the epidemiology of the disease. The frequency of unaffected, heterozygous carriers of the SMN1 mutations appears to be higher among Caucasian and Asian populations compared to the Black (Sub-Saharan African ancestry) population. However, carrier frequencies cannot directly be translated into incidence and prevalence, as very severe (death in utero) and very mild (symptom free in adults) phenotypes carrying bi-allelic SMN1 mutations exist, and their frequency is unknown.

More robust epidemiological data on SMA covering larger populations based on accurate genetic diagnosis or newborn screening would be helpful to support planning of clinical studies, provision of care and therapies and evaluation of outcomes.

Available only for authorised users

Two studies in studies in populations with a high inbreed rate (a Muslim Arab village in Israel and a Hutterite community in South Dakota, USA) are not included in the average.

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Title: 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
Publication date: 01-12-2017
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2017
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-017-0671-8

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

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

Abstract

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

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STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations

Safety and potential efficacy of gemfibrozil as a supportive treatment for children with late infantile neuronal ceroid lipofuscinosis and other lipid storage disorders