Pompe disease


Do children with Pompe disease have learning problems?

Intelligence is thought to be normal in infantile and late onset Pompe disease. Studies after the death of some patients with Pompe disease have shown buildup of glycogen in the brain and spinal cord, however, so it is possible that some minor damage may occur over time. This is becoming more evident now that people with Pompe disease are living longer with better treatments like enzyme replacement therapy. Children with IOPD often have speech that is hard to understand because of the weakness in their facial muscles and because they have more secretions as they are less able to swallow. Children with late onset Pompe disease may experience physical limitations as their muscle weakness worsens, but many have attended college and beyond. An evaluation by a developmental pediatrician is the best way to determine if a child has learning problems.

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