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glycogen storage disease V

MeSH: D006012ORPHA: 368

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

Human disease

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with glycogen storage disease V, sourced from HPO and Orphanet clinical annotations.

Elevated circulating creatine kinase concentrationExercise intoleranceIncreased muscle glycogen contentGlycogen accumulation in muscle fiber lysosomesHighly elevated creatine kinaseRhabdomyolysisRecurrent myoglobinuriaExercise-induced muscle crampsExercise-induced myoglobinuriaDark urineMuscle weaknessHypertrophic cardiomyopathyTachycardiaAcute kidney injuryExertional dyspneaSkeletal muscle atrophyExercise-induced myalgiaExercise-induced muscle stiffnessProgressive proximal muscle weaknessFatiguePostexertional symptom exacerbationDysphagiaImpaired masticationChronic kidney disease

Classification & Codes

MeSH Code

D006012

Orphanet Code

ORPHA:368
glycogen storage disease V
MeSHD006012
OrphanetORPHA:368
Treatments0 drug(s)
Symptoms on record24 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO