Spinal muscular atrophy or the abbreviation SMA that in order to distinguish it with the other atrophy, spinal muscular, name, atrophy of the spinal muscles, proximal autosomal recessive and spinal muscular atrophy 5q - ... a neurological condition-muscle is rare that the loss of motor neurons, and analysis, go the muscles is accompanied and often caused the death of early.
This disease, because of defects in the gene SMN1 is created that is responsible for making a protein called SMN, which is in all cells of organisms typical there, and the direction of the survival motor neurons is essential. Little reduction of this protein in the cells, causing a loss of normal function in the nerve cells of the anterior Horn of the spinal cord and atrophy of the muscles.
This disease in varying degrees of intensity. show your, all, their, analysis, go muscle, and impaired mobility having. The muscles of the proximal (thigh and arm) and muscles breathing, etc. before the rest are involved. Other machine, body also, especially in the type of premature disease, etc. are caught. SMA is the most common because of genetic death in infants and infants.
spinal muscular atrophy, a disease is hereditary and autosomal recessive can be passed. In December 2016 (est. drug návsí ـ as the first drug for the treatment of this disease, about the reception was located, and a few other medication is also at the stage of clinical trial.