Overview
Proximal spinal muscular atrophy 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 degeneration
Very frequent (80-99%)HP:0003202
Proximal limb muscle weakness
Very frequent (80-99%)HP:0003701
Absent deep tendon reflexes
Frequent (30-79%)HP:0001284
Axial muscle weakness
Frequent (30-79%)HP:0003327
Bulbar muscle weakness
Frequent (30-79%)HP:0001283
Deglutition disorder
Frequent (30-79%)HP:0002015
Dependence on diaphragmatic breathing
Frequent (30-79%)HP:0004878
Difficulty running
Frequent (30-79%)HP:0009046
Difficulty walking up stairs
Frequent (30-79%)HP:0003551
Diminished deep tendon reflexes
Frequent (30-79%)HP:0001315
Gait disturbance
Frequent (30-79%)HP:0001288
Inability to walk
Frequent (30-79%)HP:0002540
Poor sucking
Frequent (30-79%)HP:0002033
Quadriceps weakness
Frequent (30-79%)HP:0003731
Recurrent aspiration pneumonia
Frequent (30-79%)HP:0002100
Recurrent infections due to aspiration
Frequent (30-79%)HP:0004891
Respiratory distress, neonatal
Frequent (30-79%)HP:0002643
Respiratory failure due to muscle weakness
Frequent (30-79%)HP:0002747
Tiredness
Frequent (30-79%)HP:0012378
Tongue fasciculations/fibrillations
Frequent (30-79%)HP:0001308
Triceps weakness
Frequent (30-79%)HP:0031108
Weakness of face
Frequent (30-79%)HP:0030319
Weakness of outermost muscles
Frequent (30-79%)HP:0002460
Absent patellar reflexes
Occasional (5-29%)HP:0006844
Alveolar hypoventilation
Occasional (5-29%)HP:0002791
Atria septal defect
Occasional (5-29%)HP:0001631
Bilateral facial weakness
Occasional (5-29%)HP:0001349
Constipation
Occasional (5-29%)HP:0002019
Decreased fetal movement
Occasional (5-29%)HP:0001558
Delay in head control
Occasional (5-29%)HP:0002421
Related Conditions
Quick Facts
- SNOMED CT
- 1142327006
- UMLS CUI
- C4024957
- Fully Specified Name
- Proximal spinal muscular atrophy (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.