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Dysferlin-related limb-girdle muscular dystrophy R2

ORPHA:268 · Disease · Disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(1)

  • Elevated circulating creatine kinase activityHP:0003236

Frequent (79-30%)(2)

  • Lower limb muscle weaknessHP:0007340
  • Proximal lower limb muscle weaknessHP:0008994

Occasional (29-5%)(15)

  • Abnormal EKGHP:0003115
  • Calf muscle hypertrophyHP:0008981
  • CardiomegalyHP:0001640
  • Complete right bundle branch blockHP:0011712
  • Difficulty climbing stairsHP:0003551
  • Difficulty runningHP:0009046
  • Diminished deep tendon reflexHP:0001315
  • HyperlordosisHP:0003307
  • Muscular edemaHP:0100748
  • Neck flexor weaknessHP:0003722
  • Pes cavusHP:0001761
  • Proximal upper limb muscle weaknessHP:0008997
  • Reduced left ventricular ejection fractionHP:0012664
  • Right ventricular hypertrophyHP:0001667
  • Scapular wingingHP:0003691

Very rare (<4-1%)(11)

  • Brachial plexus neuropathyHP:0045054
  • ChoreaHP:0002072
  • Distal upper limb muscle weaknessHP:0008959
  • DysphagiaHP:0002015
  • Inability to walkHP:0002540
  • Limited elbow movementHP:0002996
  • Limited hip movementHP:0008800
  • Limited knee flexion/extensionHP:0005085
  • PollakisuriaHP:0100515
  • Spinal rigidityHP:0003306
  • Tip-toe gaitHP:0030051