Living with Glycogen storage disease, type II
Also called Pompe disease: an inherited disorder in which glycogen builds up in muscles and weakens them, with forms that start in infancy or later in life.
Understanding Glycogen storage disease, type II
There are three types: classic infantile-onset, non-classic infantile-onset, and late-onset. Classic infantile-onset begins within a few months of birth, with muscle weakness, poor muscle tone, an enlarged liver, heart defects, slow weight gain, and breathing problems. Late-onset may not show until later childhood, the teen years, or adulthood. It is usually milder and less likely to involve the heart, with progressive muscle weakness, especially in the legs and trunk.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle weakness
- Poor muscle tone (hypotonia)
- Enlarged liver and heart
- Trouble walking up stairs
- Shortness of breath with exertion
- Weak breathing muscles
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
Muscular Dystrophy Association 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: Muscular Dystrophy Association, 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 Acid Maltase Deficiency Association 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 GAA gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: acid alpha-glucosidase deficiency, infantile-onset; acid maltase deficiency; acid maltase deficiency disease; acid maltase deficiency, infantile-onset; aglucosidase alfa; alpha-1,4-glucosidase acid deficiency
Patient organizations
- Acid Maltase Deficiency AssociationGlycogen storage disease, type II · United States
- Muscular Dystrophy AssociationGlycogen storage disease, type II · United States
- Association for Glycogen Storage DiseaseGlycogen storage disease, type II · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Glycogen storage disease, type II.
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