SMA is the second most common fatal autosomal recessive disorder after cystic fibrosis, with an esti.mated prevalence of 1 in 10,000 live births and a carrier frequency of 1/40Ð1/60. 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. SMA, the notable carrier frequency, the severity of the disease, and the lack of effective treatment may justify the implementation of such an analysis in DNA diagnostic labs. The advantages and disadvantages of two reliable quantitative methods were evaluated. One of these is a competitive PCR protocol using internal standards and a genomic sequence as a reference. A prevalence of approximately 1–2 per 100,000 persons and incidence around 1 in 10,000 live births have been estimated with SMA … Who should consider carrier testing for spinal muscular atrophy? Those who have a family member with SMA or a family member known to be a carrier are at increased risk to be a carrier themselves. Genetic counseling is recommended in these cases to determine the likelihood of having a pregnancy or child affected with SMA. Also, if screening shows that both parents are carriers, the results cannot tell you how severe the disease may be if one of your children inherits it. In their excellent Seminar on spinal muscular atrophy (SMA), Mitchell Lunn and Ching Wang (June 21, p 2120)1 cite the prevalence of SMA as being about one in 10 000 livebirths, and the carrier frequency as about one in 50. Carrier screening for SMA can tell you whether you are at risk of having a baby with SMA, but it cannot tell you with 100% certainty.

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