Autosomal recessive limb girdle muscular dystrophy type 2J

disorder

SNOMED 725042001CUI C1837342

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.

Difficulty walking up stairs

Always present (100%)HP:0003551

Elevated circulating creatine phosphokinase

Always present (100%)HP:0003236

Fatty replacement of skeletal muscle

Always present (100%)HP:0012548

Increased variation in muscle fibre size

Always present (100%)HP:0003557

Proximal limb muscle weakness

Always present (100%)HP:0003701

Disease of the heart muscle

Excluded (<1%)HP:0001638

EMG: myopathic changes

HP:0003458

Muscle biopsy shows dystrophic changes

HP:0003560

Muscle wasting

HP:0003202

Weakness of outermost muscles

HP:0002460

Related Conditions

Autosomal recessive muscular dystrophy with limb girdle distribution(parent)

Quick Facts

SNOMED CT: 725042001
UMLS CUI: C1837342
Fully Specified Name: Autosomal recessive limb girdle muscular dystrophy type 2J (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 10

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.