Polyglucosan body myopathy type 2

disorder

SNOMED 1228849007CUI C4015452

Overview

Polyglucosan body myopathy type 2 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.

Muscle fiber inclusion bodies

Always present (100%)HP:0100299

Muscle fiber polyglucosan inclusion bodies

Always present (100%)HP:0034766

Hip-girdle muscle weakness

Very frequent (80-99%)HP:0003749

Muscle fibrillation

Frequent (30-79%)HP:0010546

Shoulder girdle muscle weakness

Frequent (30-79%)HP:0003547

Elevated serum creatine phosphokinase

Occasional (5-29%)HP:0003236

Hand muscle weakness

Occasional (5-29%)HP:0030237

Pelvic girdle amyotrophy

Occasional (5-29%)HP:0008946

Peroneal muscle weakness

Occasional (5-29%)HP:0011727

Weakness of outermost muscles

Occasional (5-29%)HP:0002460

Gait disturbance

HP:0001288

Limb-girdle muscle weakness

HP:0003325

Related Conditions

Chronic musculoskeletal disorder(parent)

Chronic metabolic disease(parent)

Metabolic myopathy(parent)

Glycogen storage disease(parent)

Hereditary disorder of musculoskeletal system(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1228849007
UMLS CUI: C4015452
Fully Specified Name: Polyglucosan body myopathy type 2 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

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.