The symptoms of PIGA-CDG are wide-ranging in both scope and severity, so not all PIGA-CDG children may have all of these symptoms.
- Seizures (e.g., infantile spasms, myoclonic)
- Significant developmental delays in motor and verbal skills
- Respiratory complications
- Muscle tone abnormalities (hypotonia, hypertonia, dystonia)
- Cortical Visual Impairment (CVI) and other vision disorders
- Gastrointestinal issues (e.g., slow motility)
- Sleep disorders
- Difficulty swallowing leading to aspiration
- Delayed myelination (which can be seen on MRIs)
Moreover, many children with PIGA-CDG end up requiring a feeding tube to help reduce the chance of aspiration due to swallowing issues and muscle tone abnormalities.
Aggressive early intervention therapy (including physical therapy, occupational therapy, speech therapy and vision therapy) is critical, so engage your regional center/early invention program as soon as you’re able to start services.