Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Bulbar palsies
Always present (100%)HP:0001283
Decreased miniature endplate potentials
Always present (100%)HP:0003402
Fatigable weakness of limb muscles
Always present (100%)HP:0003473
Anti-AChR antibody positivity
Excluded (<1%)HP:0030208
Arthrogryposis multiplex
HP:0002804
Deglutition disorder
HP:0002015
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003403
Episodic apnea induced by febrile illness or stress
HP:0002872
Extraocular muscle palsy
HP:0000597
Eyelid ptosis
HP:0000508
Generalized hypotonia due to defect at the neuromuscular junction
HP:0003397
Laboured breathing
HP:0002098
Poor sucking
HP:0002033
Respiratory failure due to muscle weakness
HP:0002747
Squint
HP:0000486
Sudden episodic apnea
HP:0002882
Type 2 muscle fibre atrophy
HP:0003554
Weak cry
HP:0001612
Related Conditions
Quick Facts
- SNOMED CT
- 230670003
- UMLS CUI
- C0393929
- Fully Specified Name
- Familial infantile myasthenia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 18
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.