Glycogen storage disease due to muscle phosphorylase kinase deficiency

disorder

SNOMED 819953000CUI C1845151

Overview

Glycogen storage disease due to muscle phosphorylase kinase deficiency 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.

Distal limb muscle weakness due to peripheral neuropathy

Always present (100%)HP:0002460

Distal muscle atrophy, upper and lower limbs

Always present (100%)HP:0003693

Glycogen accumulation in muscle fibre lysosomes

Always present (100%)HP:0030231

Hip-girdle muscle weakness

Always present (100%)HP:0003749

Low blood sugar

Always present (100%)HP:0001943

Lower limb muscle weakness

Always present (100%)HP:0007340

Muscle fibre necrosis

Always present (100%)HP:0003713

Quadriceps weakness

Always present (100%)HP:0003731

Progressive muscle weakness

Very frequent (80-99%)HP:0003323

Elevated serum creatine phosphokinase

Frequent (30-79%)HP:0003236

EMG: myopathic changes

Frequent (30-79%)HP:0003458

Increased muscle glycogen content

Frequent (30-79%)HP:0009051

Muscle pain

Frequent (30-79%)HP:0003326

Poor exercise tolerance

Frequent (30-79%)HP:0003546

Reduced muscle phosphorylase kinase activity

Frequent (30-79%)HP:6000198

Tiredness

Frequent (30-79%)HP:0012378

Camptocormia

Occasional (5-29%)HP:0100595

Difficulty walking up stairs

Occasional (5-29%)HP:0003551

Gait disturbance

Occasional (5-29%)HP:0001288

Hyporeflexia

Occasional (5-29%)HP:0001265

Muscle spasm

Occasional (5-29%)HP:0003394

Myoglobinuria

Occasional (5-29%)HP:0002913

Neurogenic muscle atrophy, especially in the lower limbs

Occasional (5-29%)HP:0003202

Positive Gower sign

Occasional (5-29%)HP:0003391

Exercise-induced myoglobinuria

HP:0008305

Muscle pain with exercise

HP:0003738

Muscle stiffness with exercise

HP:0008967

Muscle weakness

HP:0001324

Reduced tissue phosphorylase kinase activity

HP:6000832

Related Conditions

Glycogen phosphorylase kinase deficiency(parent)

X-linked recessive hereditary disease(parent)

Quick Facts

SNOMED CT: 819953000
UMLS CUI: C1845151
Fully Specified Name: Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.