Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Hypertonia
Occasional (5-29%)HP:0001276
Increased reflexes
Occasional (5-29%)HP:0001347
Muscle rigidity
Occasional (5-29%)HP:0002063
Stretched and thinned heart muscle
Occasional (5-29%)HP:0001644
Absent deep tendon reflexes
HP:0001284
Arthrogryposis multiplex
HP:0002804
Bulbar muscle weakness
HP:0001283
Cobb angle greater than ten degrees
HP:0002650
Congenital hypotonia
HP:0001319
Deglutition disorder
HP:0002015
Delayed motor milestones
HP:0001270
EMG: myopathic changes
HP:0003458
EMG: neuropathic changes
HP:0003445
Facial palsy
HP:0010628
Feeding difficulties in infancy
HP:0008872
Frequent falls
HP:0002359
High arched palate
HP:0000218
Hydramnios
HP:0001561
Hyporeflexia
HP:0001265
Late-onset distal muscle weakness
HP:0003810
Less than 10 fetal movements in 12 hours
HP:0001558
Limb muscle weakness
HP:0003690
Mask-like facies
HP:0000298
Mildly elevated creatine kinase
HP:0008180
Muscle weakness, generalised
HP:0003324
Myopathic facial appearance
HP:0002058
Neck flexion weakness
HP:0003722
Nemaline rods
HP:0003798
Pes cavus
HP:0001761
Prominent swayback
HP:0003307
Quick Facts
- SNOMED CT
- 702349003
- UMLS CUI
- C3711389
- Fully Specified Name
- Actin accumulation myopathy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.