Spinal muscular atrophy

Spinal muscular atrophy is a rare inherited genetic disease caused by the mutation of a gene responsible for the survival of cells involved in the normal movement of the muscles and the control of the arms, legs, abdomen, head and neck, chest, and respiratory muscles. The disease is characterized by a progressive land and irreversible loss of the cells that control the muscles.

Spinal muscular atrophy is characterized by the appearance of severe and progressive muscle weakness that most often begins in the first six months of life. The baby may also have difficulty swallowing and breathing when the symptoms manifest or at a later stage. In the most serious cases, children experience increasingly severe muscle weakness and paralysis, as well as difficulty swallowing and breathing, which may be life threatening.

Spinal muscular atrophy is an autosomal recessive disease, which means that an affected child has received a mutated copy of the gene from each of his or her parents. The parents, who each carry a single copy of the gene, are not sick.

Since it has been available, neonatal testing has allowed for early identification of children at risk of having this disease. To diagnose spinal muscular atrophy in a young child, doctors take a blood sample to conduct genetic DNA analysis. This testing is necessary because the earlier treatment is introduced, the more effective it will be, thereby improving the health and quality of life of children who have it.

New treatments can slow the progression of the disease. Children who start the treatment before their first symptoms appear to have a better chance of developing properly.