Treatments & Interventions
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Difficulty descending stairs
Always present (100%)HP:0033235
Electrical right axis deviation
Always present (100%)HP:0033567
Fluid around lungs
Always present (100%)HP:0002202
Increased circulating creatine kinase MB isoform
Always present (100%)HP:0032232
Increased circulating NT-proBNP concentration
Always present (100%)HP:0031185
Increased muscle glycogen content
Always present (100%)HP:0009051
Limb muscle weakness
Always present (100%)HP:0003690
Nonimmune hydrops fetalis
Always present (100%)HP:0001790
Panting
Always present (100%)HP:0002094
Sinus tach
Always present (100%)HP:0011703
Subarachnoid hemorrhage
Always present (100%)HP:0002138
Urinary incontinence
Always present (100%)HP:0000020
Decreased circulating acid maltase activity
Very frequent (80-99%)HP:0034932
Muscle weakness
Very frequent (80-99%)HP:0001324
Muscle weakness, progressive, proximal
Very frequent (80-99%)HP:0009073
Oligosacchariduria
Very frequent (80-99%)HP:0010471
Alanine aminotransferase increased
Frequent (30-79%)HP:0031964
Areflexia
Frequent (30-79%)HP:0001284
Camptocormia
Frequent (30-79%)HP:0100595
Cardiac murmur
Frequent (30-79%)HP:0030148
Decreased facial muscle movement
Frequent (30-79%)HP:0000338
Difficulty walking up stairs
Frequent (30-79%)HP:0003551
Elevated serum creatine phosphokinase
Frequent (30-79%)HP:0003236
EMG: myopathic changes
Frequent (30-79%)HP:0003458
Enlarged liver
Frequent (30-79%)HP:0002240
Exertional dyspnea
Frequent (30-79%)HP:0002875
Feeding difficulties in infancy
Frequent (30-79%)HP:0008872
Gait disturbance
Frequent (30-79%)HP:0001288
Glycogen accumulation in muscle fibre lysosomes
Frequent (30-79%)HP:0030231
Growth deficiency
Frequent (30-79%)HP:0001510
Quick Facts
- SNOMED CT
- 274864009
- UMLS CUI
- C0017921
- Fully Specified Name
- Glycogen storage disease due to acid maltase deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
- Known Treatments
- 3
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.