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Autosomal recessive limb girdle muscular dystrophy type 2L
disorderSNOMED 726616006CUI C1969785
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Hip-girdle muscle weakness
Always present (100%)HP:0003749
Distal muscle weakness in lower limbs
Very frequent (80-99%)HP:0009053
limb girdle muscular dystrophy
Very frequent (80-99%)HP:0006785
Muscle pain
Very frequent (80-99%)HP:0003326
Proximal muscle weakness in lower limbs
Very frequent (80-99%)HP:0008994
Proximal neurogenic muscle weakness
Very frequent (80-99%)HP:0003701
Abnormal calf muscles
Frequent (30-79%)HP:0001430
Abnormal skeletal muscle fibre morphology
Frequent (30-79%)HP:0004303
Back knee
Frequent (30-79%)HP:0002816
Elevated serum creatine phosphokinase
Frequent (30-79%)HP:0003236
EMG: axonal abnormality
Frequent (30-79%)HP:0003482
EMG: myopathic changes
Frequent (30-79%)HP:0003458
EMG: neuropathic changes
Frequent (30-79%)HP:0003445
EMG: spontaneous, repetitive electrical activity
Frequent (30-79%)HP:0003730
Fatty replacement of skeletal muscle
Frequent (30-79%)HP:0012548
Increased endomysial connective tissue
Frequent (30-79%)HP:0100297
Increased variation in muscle fibre size
Frequent (30-79%)HP:0003557
Internally nucleated skeletal muscle fibers
Frequent (30-79%)HP:0031237
Lower limb amyotrophy
Frequent (30-79%)HP:0007210
Muscle fiber atrophy
Frequent (30-79%)HP:0100295
Muscle fiber splitting
Frequent (30-79%)HP:0003555
Muscle pain with exercise
Frequent (30-79%)HP:0003738
Pelvic girdle muscle wasting
Frequent (30-79%)HP:0008988
Proximal muscle weakness in upper limbs
Frequent (30-79%)HP:0008997
Wasting of quad muscles
Frequent (30-79%)HP:0009050
Amyotrophy involving the upper limbs
Occasional (5-29%)HP:0009129
Ankle flexion contracture
Occasional (5-29%)HP:0006466
Disease of the heart muscle
Occasional (5-29%)HP:0001638
Facial muscle weakness of muscles innervated by CN VII
Occasional (5-29%)HP:0010628
Fixed flexion at the elbow joint
Occasional (5-29%)HP:0002987
Quick Facts
- SNOMED CT
- 726616006
- UMLS CUI
- C1969785
- Fully Specified Name
- Autosomal recessive limb girdle muscular dystrophy type 2L (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.