Living with Glycogen storage disease due to acid maltase deficiency, infantile onset
The most severe form of acid maltase deficiency, with an enlarged heart, weak muscles, breathing trouble, and feeding difficulties in babies.
Understanding Glycogen storage disease due to acid maltase deficiency, infantile onset
It is marked by an enlarged heart (cardiomegaly) with breathing difficulty, muscle weakness, and feeding difficulties. It begins during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from baby to baby. GARD lists these among the most common:
- Enlarged, thickened heart
- Breathing difficulties
- Floppy muscle tone in infancy
- Feeding difficulties
- Enlarged liver and large tongue
- Delayed sitting and standing
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 GAA 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
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: 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 Children's Cardiomyopathy Foundation
- 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 GAA gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: alpha-1,4-glucosidase acid deficiency, infantile onset; glycogen storage disease type 2, infantile onset; glycogen storage disease type ii infantile onset; glycogen storage disease type ii, infantile onset; glycogenosis due to acid maltase deficiency, infantile onset; glycogenosis type 2, infantile onset
Patient organizations
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
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