Overview
Childhood-onset 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.
EMG: myopathic changes
Very frequent (80-99%)HP:0003458
Myopathy
Very frequent (80-99%)HP:0003198
Nemaline rods
Very frequent (80-99%)HP:0003798
Clumsiness
Frequent (30-79%)HP:0002312
Gait disturbance
Frequent (30-79%)HP:0001288
Generalised muscle wasting
Frequent (30-79%)HP:0009055
Hyporeflexia
Frequent (30-79%)HP:0001265
Increased muscle lipid content
Frequent (30-79%)HP:0009058
Increased variation in muscle fibre size
Frequent (30-79%)HP:0003557
Limb muscle weakness
Frequent (30-79%)HP:0003690
Muscle stiffness
Frequent (30-79%)HP:0003552
Neuromuscular dysphagia
Frequent (30-79%)HP:0002068
No development of motor milestones
Frequent (30-79%)HP:0001270
Poor exercise tolerance
Frequent (30-79%)HP:0003546
Slowness of movements
Frequent (30-79%)HP:0002067
Spinal rigidity
Frequent (30-79%)HP:0003306
Type 1 muscle fiber predominance
Frequent (30-79%)HP:0003803
Absent deep tendon reflexes
Occasional (5-29%)HP:0001284
Bilateral facial weakness
Occasional (5-29%)HP:0001349
Bulbar signs
Occasional (5-29%)HP:0002483
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Decreased transverse dimension of face
Occasional (5-29%)HP:0000275
Disease of the heart muscle
Occasional (5-29%)HP:0001638
Fatigable weakness of bulbar muscles
Occasional (5-29%)HP:0030192
Feeding difficulties
Occasional (5-29%)HP:0011968
Feet or buttocks of fetus positioned near opening of uterus
Occasional (5-29%)HP:0001623
Fetal akinesia
Occasional (5-29%)HP:0001989
Flaccid neck
Occasional (5-29%)HP:0000467
Flexion contractures
Occasional (5-29%)HP:0001371
Generalised decreased muscle tone
Occasional (5-29%)HP:0001290
Quick Facts
- SNOMED CT
- 1197154006
- UMLS CUI
- C0546125
- Fully Specified Name
- Childhood-onset nemaline 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.