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GNE myopathy

ORPHA:602 · Disease · Disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(7)

  • Fatty replacement of skeletal muscleHP:0012548
  • Foot dorsiflexor weaknessHP:0009027
  • Lower limb muscle weaknessHP:0007340
  • Mildly elevated creatine kinaseHP:0008180
  • Muscle fiber inclusion bodiesHP:0100299
  • Rimmed vacuolesHP:0003805
  • Tibialis muscle weaknessHP:0008963

Frequent (79-30%)(11)

  • Absent Achilles reflexHP:0003438
  • EMG: myopathic abnormalitiesHP:0003458
  • EMG: myotonic dischargesHP:0100284
  • EMG: positive sharp wavesHP:0030007
  • Hip flexor weaknessHP:0012515
  • HypothyroidismHP:0000821
  • Increased variability in muscle fiber diameterHP:0003557
  • Limited shoulder movementHP:0006467
  • Limited wrist extensionHP:0006251
  • Shoulder girdle muscle weaknessHP:0003547
  • Steppage gaitHP:0003376

Occasional (29-5%)(7)

  • Abnormal right hemidiaphragm morphologyHP:0040047
  • Abnormality of the foot musculatureHP:0001436
  • Facial palsyHP:0010628
  • Lower limb amyotrophyHP:0007210
  • Muscle weaknessHP:0001324
  • Scapular wingingHP:0003691
  • Shoulder girdle muscle atrophyHP:0003724

Very rare (<4-1%)(2)

  • CardiomyopathyHP:0001638
  • Weakness of long finger extensor musclesHP:0009077

Excluded (0%)(1)

  • Quadriceps muscle weaknessHP:0003731