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Bio B2BSofiva Genomics 〉Spinal Muscular Atrophy Carrier Screening

Spinal Muscular Atrophy Carrier Screening

Spinal Muscular Atrophy Carrier Screening

Spinal muscular atrophy (SMA) is a potentially fatal genetic disorder whose onset ranges from infancy to adulthood. SMA patients thus slowly lose voluntary control over muscles involved in walking, crawling, swallowing, breathing, and controlling the head and neck.

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SMA is an autosomal recessive disorder, so carriers are not affected. However, when both parents are carriers, there is a 25% chance that their baby will have the disease. Approximately 95% of SMA cases are caused by the loss or conversion of large DNA segments in the SMN1 gene. The remainder of cases are likely caused by small mutations in the SMN1 gene. Most normal individuals have two or more normal SMN1 genes; whereas carriers have only one normal SMN1 gene; and affected individuals have no normal SMN1 genes. In Taiwan, roughly one out of every 40 individuals is a carrier, so the carrier rate of SMA is second only to that of thalassemia.

Due to the high occurrence rate of the genetic disorder and the fact that no treatment methods presently exist to cure or relieve symptoms, this disorder can impose a heavy burden on families and society. Reducing the occurrence rate of SMA can only be achieved via proper screening procedures and genetic tests.
In 2003, SOFIVA Genomics developed a first generation spinal muscular atrophy (SMA) carrier screening test. In subsequent years, we made great effort to improve this test and establish the world's first SMA carrier screening system. After continuing research and enhancement tests, we became the first research team to develop a dual-platform (DHPLC+MLPA) testing system. This highly efficient screening system features high throughput, high sensitivity, and high specificity, which enables SMA carriers to be identified quickly and accurately (the test has an accuracy rate of over 95%).
SMA1:Werdning-Hoffmann Disease
This type manifests within six months of birth and is characterized by severe hypotonia in the limbs and torso, muscle weakness, loss of tendon reflexes, inability to swallow, and breathing difficulties. Babies with SMA1 generally die of respiratory failure during infancy (before age two).

SMA2:Dubowitz Disease
This type occurs between the ages of 6 and 18 months. Affected babies display symmetric muscle weakness in the lower extremities, which prevents walking and standing. On occasion, the upper limbs are affected, causing trembling in the hands. The head muscles are rarely affected, allowing normal facial expressions. A small portion of affected individuals die of complications during childhood, but most can survive to adulthood with external support and health care.

SMA3:Kugelberg-Welander Disease
This type may manifest anytime between 18 months and adulthood. SMA3 is characterized by mild weakness in the proximal limb muscles, which only presents a slight inconvenience during physically demanding activities such as running or stair climbing. Individuals affected by this type generally survive longer.
In November 2008, the American College of Medical Genetics (ACMG) published clinical recommendations which suggested that pregnant women undergo SMA carrier screening. These recommendations confirm that genetic experts in the US also recognize the clinical importance of this test
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