Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Central core regions in muscle fibres
Frequent (30-79%)HP:0030230
Congenital hip dislocations
Frequent (30-79%)HP:0001374
Dropped arches
Frequent (30-79%)HP:0001763
Easy fatigability
Frequent (30-79%)HP:0003388
Foot, talipes equinovarus
Frequent (30-79%)HP:0001762
Hip-girdle muscle weakness
Frequent (30-79%)HP:0003749
Kyphoscoliosis
Frequent (30-79%)HP:0002751
Loose-jointedness
Frequent (30-79%)HP:0001382
Malignant hyperthermia
Frequent (30-79%)HP:0002047
Mitral valve prolapse
Frequent (30-79%)HP:0001634
Multiple joint contractures
Frequent (30-79%)HP:0002828
Muscle stiffness
Frequent (30-79%)HP:0003552
Myopathy
Frequent (30-79%)HP:0003198
No development of motor milestones
Frequent (30-79%)HP:0001270
Peripheral hypotonia
Frequent (30-79%)HP:0001252
Type 1 muscle fiber predominance
Frequent (30-79%)HP:0003803
Abnormal levels of creatine kinase in blood
Occasional (5-29%)HP:0040081
Bulbar signs
Occasional (5-29%)HP:0002483
Eye muscle paralysis
Occasional (5-29%)HP:0000602
Nemaline rods
Occasional (5-29%)HP:0003798
Early severe foetal akinesia sequence
Very rare (1-4%)HP:0001989
Elevated circulating creatine phosphokinase
Very rare (1-4%)HP:0003236
Respiratory distress, neonatal
Very rare (1-4%)HP:0002643
Respiratory failure due to muscle weakness
Very rare (1-4%)HP:0002747
Related Conditions
Autosomal recessive central core disease(child)
Autosomal dominant central core disease(child)
Congenital anomaly of skeletal muscle(parent)
Autosomal hereditary disorder(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Encephalomyeloneuropathy(parent)
Myoneural disorder(parent)
Developmental disorder of motor function(parent)
Hereditary disorder of nervous system(parent)
Quick Facts
- SNOMED CT
- 43152001
- UMLS CUI
- C0751951
- Fully Specified Name
- Central core disease (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 24
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.