Overview
Intermediate 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.
Muscle weakness, generalised
Very frequent (80-99%)HP:0003324
Nemaline rods
Very frequent (80-99%)HP:0003798
Severe muscular hypotonia
Very frequent (80-99%)HP:0006829
Abnormality of the chest
Frequent (30-79%)HP:0000765
Decreased fetal movement
Frequent (30-79%)HP:0001558
Decreased muscle movement
Frequent (30-79%)HP:0002375
Deglutition disorder
Frequent (30-79%)HP:0002015
EMG: myopathic changes
Frequent (30-79%)HP:0003458
Facial muscle weakness of muscles innervated by CN VII
Frequent (30-79%)HP:0010628
Flexion contractures
Frequent (30-79%)HP:0001371
Gait disturbance
Frequent (30-79%)HP:0001288
Hydramnios
Frequent (30-79%)HP:0001561
Hyporeflexia
Frequent (30-79%)HP:0001265
Multiple prenatal fractures
Frequent (30-79%)HP:0005855
Myopathic facial appearance
Frequent (30-79%)HP:0002058
Neurogenic muscle atrophy, especially in the lower limbs
Frequent (30-79%)HP:0003202
No development of motor milestones
Frequent (30-79%)HP:0001270
Respiratory failure
Frequent (30-79%)HP:0002878
Type 1 muscle fiber predominance
Frequent (30-79%)HP:0003803
Areflexia
Occasional (5-29%)HP:0001284
Bilateral facial weakness
Occasional (5-29%)HP:0001349
Eye muscle paralysis
Occasional (5-29%)HP:0000602
Increased distance between eyes
Occasional (5-29%)HP:0000316
Increased length of philtrum
Occasional (5-29%)HP:0000343
Low-set ears
Occasional (5-29%)HP:0000369
Narrow, high-arched roof of mouth
Occasional (5-29%)HP:0002705
Premature birth
Occasional (5-29%)HP:0001622
Arthrogryposis multiplex
Very rare (1-4%)HP:0002804
Quick Facts
- SNOMED CT
- 1197156008
- UMLS CUI
- C5680452
- Fully Specified Name
- Intermediate nemaline myopathy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 28
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.