Overview
Amish nemaline myopathy is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased hip abduction
Always present (100%)HP:0003184
Delayed gross motor development
Always present (100%)HP:0002194
Myopathy
Always present (100%)HP:0003198
Nemaline rods
Always present (100%)HP:0003798
Z-band streaming
Always present (100%)HP:0020203
EMG: myopathic changes
Frequent (30-79%)HP:0003458
Flexion contractures of hips
Frequent (30-79%)HP:0003273
Hypotonia, in neonatal onset
Frequent (30-79%)HP:0001319
No development of motor milestones
Frequent (30-79%)HP:0001270
Pectus carinatum
Frequent (30-79%)HP:0000768
Progressive muscle weakness
Frequent (30-79%)HP:0003323
Shoulder flexion contracture
Frequent (30-79%)HP:0003044
Symmetrical, proximal limb muscle atrophy
Frequent (30-79%)HP:0007126
Tremor
Frequent (30-79%)HP:0001337
Type 1 muscle fiber predominance
Frequent (30-79%)HP:0003803
Respiratory failure due to muscle weakness
Occasional (5-29%)HP:0002747
Nonprogressive mental retardation
Excluded (<1%)HP:0001249
Respiratory function loss
HP:0002093
Quick Facts
- SNOMED CT
- 1197155007
- UMLS CUI
- C1854380
- Fully Specified Name
- Amish nemaline myopathy (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.