SPINAL MUSCULAR ATROPHY is the #1 killer genetic disease of infants and young children. About 1 in 11,000 children are afflicted by this disease, making it a RARE DISEASE. Disease severity depends on the TYPE OF SMA:
SPINAL MUSCULAR ATROPHY is the #1 killer genetic disease of infants and young children. About 1 in 11,000 children are afflicted by this disease, making it a RARE DISEASE. Disease severity depends on the TYPE OF SMA:
SMA is a genetic disease and is inherited from both mother and father who are carriers of the defective gene. If only one parent is a carrier then SMA will not occur in the child. The defective gene, the SMN 1 gene, has a missing segment (EXON 7) that disables its ability to produce full length SMN protein. This protein is essential for nerve and muscle function and in its absence the nerves and muscles don’t work properly. Another gene called the SMN 2 gene, which is like the SMN 1 gene, then takes over the work of producing the SMN protein. Unfortunately, it produces a shorter protein that is inefficient. Patients who have more copies of SMN 2 genes are better able to cope with the disease, whereas those with fewer copies face greater problems.
Inheritance of SMA. Both parents are carriers of the defective gene, that is they carry one defective gene. The affected child has both defective genes. The unaffected child is either a carrier or has both normal genes.
A GENETIC TEST determines the deletion of EXON 7 from Chromosome 5q of the patent’s genome, which confirms the diagnosis of SMA. Previously, various other tests like Electromyography (EMG) was also done but is now unnecessary. Another important test is the MLPA TEST FOR SMN 2 COPIES. This is also a genetic test that determines the number of copies of the SMN 2 gene. It is important for the eligibility of certain treatments like SPINRAZA.
Most of the leading hospitals of the country that have a Genetics Department will be providing tests to diagnose SMA and determine the number of SMN 2 copies. Below is a list of centers and private labs which provide these tests:
There are more labs and hospitals that provide these tests. Enquire from your peid
Most of the leading hospitals of the country that have a Genetics Department will be providing tests to diagnose SMA and determine the number of SMN 2 copies. Below is a list of centers and private labs which provide these tests:
In the last 5 year, exciting milestones in SMA research have been reached. Two drugs have been approved by the U.S. FDA (Food and Drug Administration) for treatment of SMA:
Apart from these, there are many other drugs under research and not yet in trial phase. FSMA India will keep updating information. Together with SMA families, researchers and the government FSMA India aims to bring an affordable and effective treatment available to all SMA patients in India.
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