Signs & Symptoms of PMM2-CDG
PMM2-CDG can affect almost any part of the body, and symptoms vary between patients.
Everyone’s Symptoms Can Be Different.
How PMM2-CDG Affects the Body
Every person with PMM2-CDG is different—some may have mild symptoms, while others have more serious ones. Most patients do not experience all symptoms, but instead have a collection of possible symptoms. The way symptoms affect daily life changes as patients age.
Brain
- Ataxia (coordination and balance problems)
- Speech delay or slurred speech
- Seizures
Growth & Development
- Failure to thrive (not gaining weight as quickly as a child should)
- Delayed milestones (such as crawling, walking, and speaking)
- Low muscle tone
- Cognitive delay
Heart & Blood
- Thrombosis or bleeding disorders (blood clots or excessive bleeding)
- Pericardial effusions (fluid build-up around heart)
Eyes
- Crossed or shaky eyes
Endocrine
- Hormone imbalances
- Hypoglycemia (low blood sugar)
- Hypothyroidism (low thyroid activity that can cause slow growth and cognitive issues)
Multi-System Organ Dysfunction
- Gastrointestinal, liver, and kidney issues
Skeletal
- Scoliosis (sideways curvature of the spine)
Common Initial Presenting Symptoms in Infants
Symptoms of PMM2-CDG are often present in infancy and may change over time. In patients with PMM2-CDG, the early years are the most high risk for life-threatening complications.
Babies with PMM2-CDG may experience:
- Trouble eating and feeding
- Failure to thrive (not gaining weight at a normal speed)
- Delayed or not meeting expected development milestones
- Crossed eyes or shaky gaze
- Extra fat under the skin in unusual places, especially above the bottom
- Nipples that point inward
Remember: Not every baby will have all of these signs. Each child is different, and some may have many of these features while others have just a few.
Getting a diagnosis early helps doctors provide the most informed care and monitor for potentially severe complications.
Patient Spotlight
“Mobility, communication, and independence are greatly affected in our daily life. Things that people take for granted, like getting PJs on, walking, being able to access your space, all require extra patience and support.”
– Caregiver of Sammy, a patient living with PMM2-CDG