SIMD-NAMA

Other neurological phenotypes include the head lag and the hypotonia. These are often seen in Pompe Disease. Pompe Disease is more of a muscular phenotype, it doesn’t look like any other LSD, it actually looks more like a dystrophy than an LSD. It has different subtypes. Infantile form is this baby you see here, born very floppy, never sits, never crawls, never walks, cardiomyopathy, shortness of breath will be intubated. The juvenile form is more of a proximal myopathy, cannot walk the stairs, will need a wheelchair, muscle weakness, cannot lay flat.