Spinal Muscular Atrophy

Spinal muscular Atrophy or (SMA) is a genetic disorder that attacks the survival motor neuron or in other words it attacks the nerves in the spinal cord that helps the person move all their voluntary muscles. SMA is an autosomal recessive genetic disease. In order for the child to get this disease both parents have to have the abnormal gene and pass it on to their child. The likelihood of a child getting SMA is 1 out of 4. The individual with SMA has a missing or a mutated gene (SMN1) that produces the protein called Survival Motor protein. Without SMN the nerve cells may atrophy, shrink and then die leaving muscles weak. The chromosomes that SMA is found on are either the 5, 11, x, and the 20 chromosome.

Signs and symptoms :

• Decreased or absent deep tendon reflexes
• Hypotonia or diminished muscle tone
• twitching of muscles
• Respiratory problems
• Sluggish performance in activities
• aching of limbs

Diagnosis for SMA is usually throw a blood test. In the blood test they look for the presence or absence of the SMN1 gene. There is no treatment for this disease. supportive care is very important to the patient and to check every couple of weeks with your doctor. This disease is not common. Only 1 out of 6000 people will get this disease.No real population is at risk of SMA. only half of all people live to 50 with SMA.