Late-onset limb-girdle myopathy with oculobulbar signs and rimmed vacuoles associated with a novel Pompe disease mutation


Pompe disease (PD) is an autosomal recessive lysosomal storage disorder caused by acid alfa-glucosidase (GAA) deficiency. Late-onset phenotype is heterogeneous, and it may include ptosis and/or bulbar weakness. Since 2006 enzyme replacement therapy with alglucosidase alfa has become available with the best benefit depending on residual muscle function. Therefore, its prompt diagnosis has become more noteworthy. We describe a 50-year-old Portuguese woman, which presented with slowly progressive speech slurring and limb-girdle muscle weakness for the previous 25 years.


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