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Autosomal recessive limb girdle muscular dystrophy, cardiac arrhythmia syndrome
disorderSNOMED 1179295004CUI C5568138
Overview
Autosomal recessive limb girdle muscular dystrophy, cardiac arrhythmia syndrome 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.
Central nuclei
Always present (100%)HP:0003687
Second degree atrioventricular block
Always present (100%)HP:0011706
Syncope
Always present (100%)HP:0001279
Elevated serum creatine phosphokinase
Frequent (30-79%)HP:0003236
Increased variation in muscle fibre size
Frequent (30-79%)HP:0003557
Limb muscle weakness
Frequent (30-79%)HP:0003690
Limb-girdle muscle weakness
Frequent (30-79%)HP:0003325
Muscle fibre necrosis
Frequent (30-79%)HP:0003713
Sinus bradycardia
Frequent (30-79%)HP:0001688
Gait disturbance
Very rare (1-4%)HP:0001288
Loss of ambulation
HP:0002505
Muscle biopsy shows dystrophic changes
HP:0003560
Muscle pain
HP:0003326
Neurogenic muscle atrophy, especially in the lower limbs
HP:0003202
Poor exercise tolerance
HP:0003546
Proximal limb muscle weakness
HP:0003701
Skipped heart beat
HP:0001962
Quick Facts
- SNOMED CT
- 1179295004
- UMLS CUI
- C5568138
- Fully Specified Name
- Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 17
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.