Management

There is currently no specific cure for Paganini-Miozzo syndrome, so care is focused on supporting the child and managing symptoms. Treatment usually involves a team of different specialists. A neurologist may help manage seizures if they are present. Early developmental support is very important and may include physiotherapy, speech therapy, and learning support. Regular eye check-ups are recommended to monitor vision problems such as short-sightedness. Some children may need help with feeding or nutrition, especially in early life.

Doctors may also recommend brain scans or blood tests if needed, depending on the child’s symptoms. Because the condition is genetic, genetic counselling can help families understand the condition and the chances of it occurring again in the family.

Care is tailored to each child, based on their specific needs.