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Facioscapulohumeral dystrophy

ORPHA:269 · Disease · Disorder

HPO 表現型（共 37 項）

Very frequent (99-80%)(6)

  • Elevated circulating creatine kinase activityHP:0003236
  • HyperlordosisHP:0003307
  • Mask-like faciesHP:0000298
  • Progressive muscle weaknessHP:0003323
  • Scapular wingingHP:0003691
  • Skeletal muscle atrophyHP:0003202

Frequent (79-30%)(25)

  • Abdominal wall muscle weaknessHP:0009023
  • Abnormal retinal vascular morphologyHP:0008046
  • Beevor's signHP:0030664
  • CamptocormiaHP:0100595
  • Chronic painHP:0012532
  • Complete right bundle branch blockHP:0011712
  • ConjunctivitisHP:0000509
  • Decreased facial expressionHP:0004673
  • Distal upper limb muscle weaknessHP:0008959
  • EMG: myopathic abnormalitiesHP:0003458
  • Foot dorsiflexor weaknessHP:0009027
  • Frequent fallsHP:0002359
  • Gait disturbanceHP:0001288
  • KeratitisHP:0000491
  • Limb-girdle muscle weaknessHP:0003325
  • Nocturnal lagophthalmosHP:0030002
  • Pectoralis amyotrophyHP:0012037
  • Pectus excavatumHP:0000767
  • Protuberant abdomenHP:0001538
  • Restrictive ventilatory defectHP:0002091
  • ScoliosisHP:0002650
  • Sensorineural hearing impairmentHP:0000407
  • Steppage gaitHP:0003376
  • Straight clavicleHP:0006587
  • Weakness of facial musculatureHP:0030319

Occasional (29-5%)(6)

  • Exudative retinopathyHP:0007898
  • Respiratory insufficiencyHP:0002093
  • Retinal detachmentHP:0000541
  • SeizureHP:0001250
  • Supraventricular arrhythmiaHP:0005115
  • Visual lossHP:0000572