Overview
Scapuloperoneal muscular dystrophy 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.
Shoulder weakness
Always present (100%)HP:0003547
Delayed relaxation of muscle fibres after contraction
Very frequent (80-99%)HP:0002486
Diminished deep tendon reflexes
Very frequent (80-99%)HP:0001315
Elevated circulating creatine phosphokinase
Very frequent (80-99%)HP:0003236
limb girdle muscular dystrophy
Very frequent (80-99%)HP:0006785
Myopathy
Very frequent (80-99%)HP:0003198
Pectus excavatum
Very frequent (80-99%)HP:0000767
Stiff joint
Very frequent (80-99%)HP:0001387
Absent muscle fiber emerin
Frequent (30-79%)HP:0030117
Achilles tendon contracture
Frequent (30-79%)HP:0001771
Back pain
Frequent (30-79%)HP:0003418
Calf muscle pseudohypertrophy
Frequent (30-79%)HP:0003707
EMG: myopathic changes
Frequent (30-79%)HP:0003458
Fixed flexion at the elbow joint
Frequent (30-79%)HP:0002987
Gait disturbance
Frequent (30-79%)HP:0001288
Inability to touch chin to chest
Frequent (30-79%)HP:0004631
Increased plasma LDL levels
Frequent (30-79%)HP:0003141
Increased triglycerides
Frequent (30-79%)HP:0002155
Mildly elevated creatine kinase
Frequent (30-79%)HP:0008180
Muscle weakness
Frequent (30-79%)HP:0001324
Proximal lower limb muscle atrophy
Frequent (30-79%)HP:0008956
Proximal muscle weakness in lower limbs
Frequent (30-79%)HP:0008994
Proximal muscle weakness in upper limbs
Frequent (30-79%)HP:0008997
Proximal upper limb amyotrophy
Frequent (30-79%)HP:0008948
Rimmed vacuoles
Frequent (30-79%)HP:0003805
Scapular weakness
Frequent (30-79%)HP:0003691
Spinal rigidity
Frequent (30-79%)HP:0003306
Sprengel deformity
Frequent (30-79%)HP:0000912
Type 1 muscle fiber atrophy
Frequent (30-79%)HP:0011807
Waddling gait
Frequent (30-79%)HP:0002515
Quick Facts
- SNOMED CT
- 129620000
- UMLS CUI
- C4759774
- Fully Specified Name
- Scapuloperoneal muscular dystrophy (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.