Living with PMM2-congenital disorder of glycosylation
An inherited condition that affects many parts of the body, with signs starting in infancy such as low muscle tone and developmental delay.
Understanding PMM2-congenital disorder of glycosylation
Signs usually start in infancy and vary widely, even within a family. Babies may have low muscle tone, inverted nipples, unusual fat distribution, crossed eyes, developmental delay and poor weight gain. An underdeveloped cerebellum, the part of the brain that coordinates movement, is common. Some people have seizures, liver test changes or blood clotting problems. Some have moderate intellectual disability or cannot walk independently.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone and weak reflexes
- Developmental and speech delays
- Crossed eyes (strabismus)
- Feeding difficulties
- Inverted nipples and unusual fat distribution
- Loose joints and flat feet
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, digestive system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in PMM2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
CDG CARE and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: CDG CARE, Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with CDG CARE and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the PMM2 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: carbohydrate deficient glycoprotein syndrome type ia; carbohydrate-deficient glycoprotein syndrome, type ia; cdg - carbohydrate-deficient glycoprotein syndrome type i; cdg 1a; cdg ia; cdg syndrome type ia
Patient organizations
- CDG CAREPMM2-congenital disorder of glycosylation · United States
- Congenital Hyperinsulinism InternationalPMM2-congenital disorder of glycosylation · United States
- Amour FundPMM2-congenital disorder of glycosylation · United States
- CDG & Allies - PPAINPMM2-congenital disorder of glycosylation · Epilepsy Foundation
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with PMM2-congenital disorder of glycosylation.
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