Clinical Signs and Symptoms
ORPHA:365 Glycogen storage disease due to acid maltase deficiency
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abnormal enzyme/coenzyme activity HP:0012379
- Muscle weakness HP:0001324
- Oligosacchariduria HP:0010471
- Progressive proximal muscle weakness HP:0009073
Very frequent
- Areflexia HP:0001284
- Cardiomegaly HP:0001640
- Difficulty climbing stairs HP:0003551
- Difficulty walking HP:0002355
- EMG: myopathic abnormalities HP:0003458
- Elevated circulating creatine kinase concentration HP:0003236
- Elevated serum alanine aminotransferase HP:0031964
- Exercise intolerance HP:0003546
- Exertional dyspnea HP:0002875
- Failure to thrive HP:0001508
- Fatigue HP:0012378
- Feeding difficulties in infancy HP:0008872
- Glycogen accumulation in muscle fiber lysosomes HP:0030231
- Gowers sign HP:0003391
- Heart murmur HP:0030148
- Hepatomegaly HP:0002240
- Hyporeflexia HP:0001265
- Increased lactate dehydrogenase activity HP:0025435
- Left ventricular hypertrophy HP:0001712
- Lower limb muscle weakness HP:0007340
- Motor delay HP:0001270
- Respiratory insufficiency HP:0002093
- Respiratory insufficiency due to muscle weakness HP:0002747
- Respiratory tract infection HP:0011947
Frequent
- Abnormal internal carotid artery morphology HP:3000062
- Basilar artery calcification HP:0031310
- Chronic pain HP:0012532
- Cranial nerve paralysis HP:0006824
- Diaphragmatic weakness HP:0009113
- Difficulty in tongue movements HP:0000183
- Dilatation of the cerebral artery HP:0004944
- Dysarthria HP:0001260
- Dysphagia HP:0002015
- Facial hypotonia HP:0000297
- Fatigable weakness of respiratory muscles HP:0030196
- Fatigable weakness of swallowing muscles HP:0030195
- Generalized muscle weakness HP:0003324
- Hearing impairment HP:0000365
- Hyperlordosis HP:0003307
- Hypertrophic cardiomyopathy HP:0001639
- Impaired mastication HP:0005216
- Inability to walk HP:0002540
- Infantile muscular hypotonia HP:0008947
- Left ventricular outflow tract obstruction HP:0032092
- Macroglossia HP:0000158
- Orthopnea HP:0012764
- Osteoporosis HP:0000939
- Ptosis HP:0000508
- Respiratory distress HP:0002098
- Respiratory failure HP:0002878
- Scoliosis HP:0002650
- Shortened PR interval HP:0005165
- Sleep apnea HP:0010535
- Thoracic aortic aneurysm HP:0012727
- Transient ischemic attack HP:0002326
- Vasculitis HP:0002633
Occasional
- Atelectasis HP:0100750
- Bowel incontinence HP:0002607
- Cognitive impairment HP:0100543
- Flexion contracture HP:0001371
- Motor axonal neuropathy HP:0007002
Rare
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.