G.P.232

2014

Spinal muscular atrophy (SMA) and Pompe disease (PD) are common neuromuscular disorders during childhood causing progressive weakness of proximal muscles with gait disturbances, loss of ambulation and breathing difficulties. Whereas SMA is the result of a neurogenic atrophy caused by mutations in the SMN1 gene, PD is a lysosomal glycogen storage disease (type II) due to mutations of the GAA gene responsible for the enzyme activity of acid alpha-1,4-glucosidase. PD is treatable by enzyme replacement therapy, but in SMA there is no established curable therapy. We report on a child with genetically proven SMA type III and PD caused by mutations in the SMN1 and GAA genes. A 3 years old girl pre…