Spinal Muscular Atrophy - SMA

There are several types of tests used to diagnose SMA:

• Blood tests
• Muscle biopsy
• Genetic tests
• EMG

A lot of issues are generated regarding testing for SMA in children, as well as testing parents for carrier status. In 1997, a DNA test, called the quantitative PCR test for the SMN1 gene, came out on the market to help parents determine if they carry the mutant gene that causes SMA. The test is done by taking a blood sample. Testing the general population is too difficult, so it is reserved for those who have had people with SMA in their family.

Testing is possible prenatally via with amnioscetises or chorionic villus samples.

The Resources section of this article has information on where to go for testing

• Overview of Spinal Muscular Atrophy - SMA
• The Genetics of Spinal Muscular Atrophy - SMA
• Types of Spinal Muscular Atrophy
• Types of Spinal Muscular Atrophy - SMA Type 1
• Types of Spinal Muscular Atrophy - SMA Type 2
• Types of Spinal Muscular Atrophy - SMA Types 3 and 4
• Diagnosing and Testing for Spinal Muscular Atrophy - SMA
• Treatment for Spinal Muscular Atrophy - SMA
• Resources for Spinal Muscular Atrophy - SMA
• Spinal Muscular Atrophy - SMA - Bibliography