Autosomal recessive limb girdle muscular dystrophy type 2O

disorder

SNOMED 725043006CUI C3150417

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Elevated circulating creatine phosphokinase

Always present (100%)HP:0003236

Increased endomysial connective tissue

Always present (100%)HP:0100297

Increased size of calf muscles

Always present (100%)HP:0008981

Increased variation in muscle fibre size

Always present (100%)HP:0003557

Positive Gower sign

Always present (100%)HP:0003391

Prominent swayback

Always present (100%)HP:0003307

Proximal neurogenic muscle weakness

Always present (100%)HP:0003701

Severe myopia

Always present (100%)HP:0011003

Delayed motor milestones

Occasional (5-29%)HP:0001270

Difficulty walking up stairs

HP:0003551

Hypertrophic muscles

HP:0003712

Muscle biopsy shows dystrophic changes

HP:0003560

Tiredness

HP:0012378

Related Conditions

Autosomal recessive muscular dystrophy with limb girdle distribution(parent)

Quick Facts

SNOMED CT: 725043006
UMLS CUI: C3150417
Fully Specified Name: Autosomal recessive limb girdle muscular dystrophy type 2O (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

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.