Living with DK1-congenital disorder of glycosylation
An inherited condition that often affects the heart, and can also cause seizures, delayed development, low muscle tone, and dry skin.
Understanding DK1-congenital disorder of glycosylation
Signs usually begin in infancy or early childhood and vary in severity. Nearly everyone with this condition has a weakened and enlarged heart (dilated cardiomyopathy). Other common features are repeated seizures, developmental delay, low muscle tone, and dry, scaly skin (ichthyosis). Less often, people have unusual facial features, kidney disease, hormone problems, or eye problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weak, enlarged heart (dilated cardiomyopathy)
- Heart failure
- Seizures
- Mild delays in development
- Dry, scaly skin (ichthyosis)
- Poor weight gain (failure to thrive)
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 genetic specialists, heart and blood vessel specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in DOLK 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, Children's Cardiomyopathy Foundation and Foundation for Ichthyosis and Related Skin Types may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: CDG CARE, Children's Cardiomyopathy Foundation, Foundation for Ichthyosis and Related Skin Types
- 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 DOLK 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 1m; carbohydrate deficient glycoprotein syndrome type im; cdg im; cdg syndrome type im; cdg-im; cdg1m
Patient organizations
- CDG CAREDK1-congenital disorder of glycosylation · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- Foundation for Ichthyosis and Related Skin TypesIchthyosis · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with DK1-congenital disorder of glycosylation.
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