New technique to genetically diagnose spinal muscular atrophy

Spinal muscular atrophy It is a degenerative and hereditary disease that until now has no treatment that can fight it, there is no preventive treatment, although the so-called "genetic counseling" does. This disease causes a degeneration in the neurons that are located in the spinal cord, atrophy gradually becomes more present in the muscles becoming paralyzed throughout the body, and in many cases causes death.

Thanks to a medical team from the Hospital de Basurto (Bilbao), now the medical community will have a very precise new technique capable of diagnosing the possibility that the disease affects a future baby. This disease manifests itself in a baby when it coincides that both parents have a mutation of a certain gene, with the new system it is possible to know if any of the parents is free of this mutation and assess if it is found, how it would affect the disease To the future baby.

In this way, if the risk is high, the genetic counseling is carried out, with which parents can decide if conception is a good option. Although the risk of a person suffering from this disease (manifests itself at any stage of life) is 1 in 6,000-10,000, one in 60 people is a carrier of the gene in question and knowing who are carriers would minimize the incidence of this ailment and its irremediable consequences.

Video: Spinal muscular atrophy - causes, symptoms, diagnosis, treatment, pathology (May 2024).