Traits

Traits linked to GAA

alpha glucosidase

The Human Phenotype Ontology links 67 traits to GAA, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Always
Elevated circulating alanine aminotransferase concentration	Always
Elevated circulating aspartate aminotransferase concentration	Always
Elevated circulating CK-MB concentration	Always
Elevated circulating NT-proBNP concentration	Always
Fluid around lungs	Always
Increased circulating lactate dehydrogenase concentration	Always
Increased muscle glycogen content	Always
Nonimmune hydrops fetalis	Always
Abnormal circulating enzyme concentration or activity	Very often (80–99%)
Oligosacchariduria	Very often (80–99%)
Elevated urine glucose tetrasaccharide level	Not recorded
Fever	Not recorded
Reduced muscle alpha-1,4-glucosidase activity	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Right axis deviation	Always
Sinus tachycardia	Always
Enlarged and thickened heart muscle	Very often (80–99%)
Enlarged heart	Very often (80–99%)
Left ventricular hypertrophy	Very often (80–99%)
Left ventricular outflow tract obstruction	Very often (80–99%)
Heart murmur	Often (30–79%)
Low-output congestive heart failure	Often (30–79%)
Shortened PR interval	Often (30–79%)
Brain aneurysm	Not recorded
Increased spleen size	Not recorded
Wolff-Parkinson-White syndrome	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Difficulty descending stairs	Always
Difficulty walking up stairs	Always
Generalized muscle weakness	Always
Muscle weakness	Always
Reduced maximal expiratory pressure	Always
Reduced maximal inspiratory pressure	Always
Decreased muscle tone in infant	Very often (80–99%)
Decreased lung function due to weak breathing muscles	Often (30–79%)
Proximal neurogenic muscle weakness	Often (30–79%)
Diaphragmatic paralysis	Not recorded
Firm muscles	Not recorded
Low muscle tone	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Always
Decreased reflex response	Always
Delayed ability to sit	Very often (80–99%)
Delayed ability to stand	Very often (80–99%)
Multifocal hyperintensity of cerebral white matter on MRI	Very often (80–99%)
Absent reflexes	Often (30–79%)
Motor delay	Often (30–79%)
Intellectual disability	Sometimes (5–29%)
Abnormal CNS myelination	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulty	Always
Breathing difficulties	Very often (80–99%)
Respiratory failure	Often (30–79%)
Respiratory failure requiring assisted ventilation	Often (30–79%)
Respiratory function loss	Often (30–79%)
Respiratory tract infection	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally large tongue	Often (30–79%)
Decreased facial muscle tone	Often (30–79%)
Tongue muscle weakness	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Limb muscle weakness	Always
Lower limb muscle weakness	Always

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Very often (80–99%)
Feeding difficulties in infancy	Very often (80–99%)

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	Always
Fatigue	Always

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Subarachnoid hemorrhage	Always

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Loss of bladder control	Always

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to GAA and how often each is seen. Find out more at hpo.jax.org.

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