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Autosomal recessive limb girdle muscular dystrophy type 2E
disorderSNOMED 718850008CUI C1858593
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Loss of ambulation
Always present (100%)HP:0002505
Elevated circulating creatine phosphokinase
Frequent (30-79%)HP:0003236
Gait disturbance
Frequent (30-79%)HP:0001288
Hip-girdle muscle weakness
Frequent (30-79%)HP:0003749
Increased size of calf muscles
Frequent (30-79%)HP:0008981
Increased variation in muscle fibre size
Frequent (30-79%)HP:0003557
Myopathic facial appearance
Frequent (30-79%)HP:0002058
Myopathy
Frequent (30-79%)HP:0003198
Positive Gower sign
Frequent (30-79%)HP:0003391
Speech and language difficulties
Frequent (30-79%)HP:0000750
Waddling gait
Frequent (30-79%)HP:0002515
Wide based walk
Frequent (30-79%)HP:0002136
Calf muscle pseudohypertrophy
Occasional (5-29%)HP:0003707
Disease of the heart muscle
Occasional (5-29%)HP:0001638
Myoglobinuria
Occasional (5-29%)HP:0002913
Stretched and thinned heart muscle
Occasional (5-29%)HP:0001644
Congenital muscular dystrophy
HP:0003560
Limb-girdle muscle weakness
HP:0003325
Pelvic girdle muscle wasting
HP:0008988
Scapular weakness
HP:0003691
Shoulder girdle muscle wasting
HP:0003724
Symmetrical, proximal limb muscle atrophy
HP:0007126
Quick Facts
- SNOMED CT
- 718850008
- UMLS CUI
- C1858593
- Fully Specified Name
- Autosomal recessive limb girdle muscular dystrophy type 2E (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 22
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.