Spinal Muscular Atrophy (SMA) is an inherited neuromuscular condition that affects the nerve cells (motor neurons) in an area of the spinal cord called the anterior horn because the nerves are damaged, the muscles don’t receive signals from the brain correctly and thus it becomes wasted, or atrophied.
This muscle wasting can lead to problems with breathing as well as movement (motor) activities such as crawling, sitting, walking, feeding and head control. Intelligence is not affected – indeed, many children with SMA appear to be particularly bright.
SMA is caused by a mutation in the survival motor neuron gene 1 (SMN1). In a healthy person, this gene produces a protein that is critical to the function of the nerves that controls our muscles.
SMA is inherited in an autosomal recessive pattern, which means that in order for a child to be affected, both parents must be carriers of the abnormal gene and both must pass this gene onto their child. Carrier parents have a 1 in 4 chance of having an affected child, a 2 in 4 chance of having a carrier child, and a 1 in 4 chance of having a child who is completely free of the affected by the gene.
Clinically there are four primary SMA types—I, II, III, and IV—based on the age of onset and the highest physical milestone achieved and clinical severity.
There’s great reason for hope novel therapies as they are emerging.
Diagnosis of SMA is through genetic tests through a blood sample.
Genetic tests are simple and easy to be done.
SPINRAZA (Nusinersen) On December 23, 2016, the FDA announced that it has approved Spinraza for SMA, making it the first-ever approved therapy for SMA.
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Egyptian Neuromuscular Registry
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