Treatment of Spinal muscular atrophy

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At present there is no known cure, or treatment, which will repair the damage to the anterior horn cells, or reverse the weakening of the muscles. However research is advancing in many areas.

Physiotherapy may improve the posture. Active exercises to maintain muscle strength are encouraged. Respiratory exercises and other breathing techniques are important to reduce the effects of chest infections. An occupational therapist should be able to advise on suitable equipment. The goals are to maintain joint mobility, prevent contractures maximize respiratory function, and maintain muscle strength.

Mutations have been identified in two closely related genes near the SMA gene. This now makes it possible to identify a missing part of the gene in affected infants. Pre-natal diagnosis is now possible by chorionic villus sampling in any future pregnancy once the deletion has been shown in an affected child. The test is usually carried out between ten and twelve weeks of pregnancy.

It is also possible to test for the likelihood of being a carrier. This can be done when one person within a couple is known to carry the defective gene.