Type II SMA is recognized after age six by onset of muscle weakness and hypotony and the patients are able to sit but need support to walk. In the type III SMA, Kugelberg-Welander disease, it occurs at age of 18 months; and the patients have the ability to walk. Type IV SMA is a mild form with an adult onset of muscle weakness [5]. Lunn et al. demonstrated that 95 % of SMA patients have a homozygous disturbance in the SMN1 gene on chromosome 5q, caused by mutation, deletion, or rearrangement. However, one copy of SMN2 is present in all SMA patients which provide only 10 % of the full length of SMN protein [7]. According to this fact the activation of SMN2 can used as a plan to treat the SMA patients for providing the full protein
Type II SMA is recognized after age six by onset of muscle weakness and hypotony and the patients are able to sit but need support to walk. In the type III SMA, Kugelberg-Welander disease, it occurs at age of 18 months; and the patients have the ability to walk. Type IV SMA is a mild form with an adult onset of muscle weakness [5]. Lunn et al. demonstrated that 95 % of SMA patients have a homozygous disturbance in the SMN1 gene on chromosome 5q, caused by mutation, deletion, or rearrangement. However, one copy of SMN2 is present in all SMA patients which provide only 10 % of the full length of SMN protein [7]. According to this fact the activation of SMN2 can used as a plan to treat the SMA patients for providing the full protein