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Glycogen storage disease due to muscle phosphorylase kinase deficiency

ORPHA:715 · Disease · Disorder

HPO 表現型（共 16 項）

Very frequent (99-80%)(1)

  • Progressive muscle weaknessHP:0003323

Frequent (79-30%)(7)

  • Elevated circulating creatine kinase activityHP:0003236
  • EMG: myopathic abnormalitiesHP:0003458
  • Exercise intoleranceHP:0003546
  • FatigueHP:0012378
  • Increased muscle glycogen contentHP:0009051
  • MyalgiaHP:0003326
  • Reduced muscle phosphorylase kinase activityHP:6000198

Occasional (29-5%)(8)

  • CamptocormiaHP:0100595
  • Difficulty climbing stairsHP:0003551
  • Gait disturbanceHP:0001288
  • Gowers signHP:0003391
  • HyporeflexiaHP:0001265
  • Muscle spasmHP:0003394
  • MyoglobinuriaHP:0002913
  • Skeletal muscle atrophyHP:0003202