Living with DPM3-congenital disorder of glycosylation
An extremely rare inherited condition with muscle weakness, a waddling walk, and a weakened heart.
Understanding DPM3-congenital disorder of glycosylation
GARD notes only a single reported case. The person had muscle weakness, a waddling walk, and a stretched, thinned heart muscle (dilated cardiomyopathy). It began in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle weakness
- Weakness of the hip and thigh muscles
- Weak, enlarged heart (dilated cardiomyopathy)
- Enlarged calf muscles
- Flat feet
- Chest pain
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, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in DPM3 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 Children's Cardiomyopathy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: CDG CARE, Children's Cardiomyopathy 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
GARD says changes in the DPM3 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 1o; carbohydrate deficient glycoprotein syndrome type io; cdg io; cdg syndrome type io; cdg-io; cdg1(dpm3)
Patient organizations
- CDG CAREDPM3-congenital disorder of glycosylation · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with DPM3-congenital disorder of glycosylation.
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