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Glycogen storage disease due to muscle glycogen phosphorylase deficiency

ORPHA:368 · Disease · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(5)

  • Elevated circulating creatine kinase activityHP:0003236
  • Exercise intoleranceHP:0003546
  • Glycogen accumulation in muscle fiber lysosomesHP:0030231
  • Highly elevated creatine kinaseHP:0030234
  • Increased muscle glycogen contentHP:0009051

Frequent (79-30%)(5)

  • Dark urineHP:0040319
  • Exercise-induced muscle crampsHP:0003710
  • Exercise-induced myoglobinuriaHP:0008305
  • Recurrent myoglobinuriaHP:0003652
  • RhabdomyolysisHP:0003201

Occasional (29-5%)(11)

  • Acute kidney injuryHP:0001919
  • Exercise-induced muscle stiffnessHP:0008967
  • Exercise-induced myalgiaHP:0003738
  • Exertional dyspneaHP:0002875
  • FatigueHP:0012378
  • Hypertrophic cardiomyopathyHP:0001639
  • Muscle weaknessHP:0001324
  • Postexertional symptom exacerbationHP:0030973
  • Progressive proximal muscle weaknessHP:0009073
  • Skeletal muscle atrophyHP:0003202
  • TachycardiaHP:0001649

Very rare (<4-1%)(3)

  • Chronic kidney diseaseHP:0012622
  • DysphagiaHP:0002015
  • Impaired masticationHP:0005216