NDLI: Spinal Muscular Atrophy TESTS

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Spinal Muscular Atrophy TESTS

Content Provider	Semantic Scholar
Copyright Year	2019
Abstract	Reproductive carrier screening for cystic fibrosis (CF), fragile X syndrome (FXS), and SMA Recommended for carrier screening in women who are pregnant or planning a pregnancy Not recommended for men, as FXS carrier screening is not indicated Do not use for diagnostic testing in patients with symptoms of CF, FXS, or SMA Not recommended for diagnostic testing for CF, FXS, or SMA For further information regarding this test in CF or FXS, see Test Fact Sheets: Spinal muscular atrophy (SMA) is the most common lethal genetic disease in children and is characterized by progressive muscle weakness due to degeneration of the lower motor neurons. Onset ranges from before birth to adulthood and severity is highly variable. Individuals with SMA have no functioning copies of the SMN1 gene. Most (95%) have homozygous loss of SMN1 due to deletion or gene conversion, while a minority (5%) have a deletion of SMN1 on one chromosome and a SMN1 sequence variant on the other. The SMN2 gene, adjacent and highly homologous to SMN1, produces lower levels of survival motor neuron protein compared to SMN1. Disease severity has been shown to be modified by SMN2 gene copy number in some cases, though phenotype cannot be predicted with certainty. An SMN1 variant, c.*3+80T>G, that is part of a haplotype associated with SMN1 duplication in silent carriers (two copies of SMN1 on one chromosome and no copies on the other), particularly in individuals of Ashkenazi Jewish descent, increases the likelihood that two copies of SMN1 are on the same chromosome.
File Format	PDF HTM / HTML
Alternate Webpage(s)	http://ltd.aruplab.com/Tests/Pdf/412
Language	English
Access Restriction	Open
Content Type	Text
Resource Type	Article

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