Indeed, the EMG revealed the presence of neuromuscular involvement, supporting the hypothesis of a primarily muscular disease due to the absence of peripheral neuropathy (as confirmed by the negative response of the analyses of genes related to SMA and CMT) and the presence of motor unit potential (MUP) of reduced duration on the proximal muscles, which we believe to be an expression of an initial phase of the disease. This evidence concerns the gene SMN1 and peripheral neuropathy.