Overview
Distal nebulin 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.
Ankle flexion contracture
Frequent (30-79%)HP:0006466
EMG: myopathic changes
Frequent (30-79%)HP:0003458
High arched palate
Frequent (30-79%)HP:0000218
Inability to heel walk
Frequent (30-79%)HP:0009027
Muscle weakness, progressive, distal
Frequent (30-79%)HP:0009063
Neck flexion weakness
Frequent (30-79%)HP:0003722
Nemaline rods
Frequent (30-79%)HP:0003798
Sternocleidomastoid amyotrophy
Frequent (30-79%)HP:0012036
Weakness of long finger extensor muscles
Frequent (30-79%)HP:0009077
Weakness of the intrinsic hand muscles
Frequent (30-79%)HP:0009005
Exertional dyspnea
Occasional (5-29%)HP:0002875
Fatty replacement of skeletal muscle
Occasional (5-29%)HP:0012548
Muscle weakness, progressive, proximal
Occasional (5-29%)HP:0009073
Thin build
Occasional (5-29%)HP:0001533
Weakness of face
Occasional (5-29%)HP:0030319
Disease of the heart muscle
Very rare (1-4%)HP:0001638
Related Conditions
Quick Facts
- SNOMED CT
- 783148005
- UMLS CUI
- C5190827
- Fully Specified Name
- Distal nebulin myopathy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 16
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.