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Thomsen and Becker disease

ORPHA:614 · Disease · Disorder

HPO 表現型（共 15 項）

Very frequent (99-80%)(5)

  • EMG abnormalityHP:0003457
  • EMG: myotonic dischargesHP:0100284
  • Muscle stiffnessHP:0003552
  • MyotoniaHP:0002486
  • Myotonia with warm-up phenomenonHP:0003740

Frequent (79-30%)(2)

  • MyalgiaHP:0003326
  • Skeletal muscle hypertrophyHP:0003712

Occasional (29-5%)(5)

  • ClumsinessHP:0002312
  • EMG: myopathic abnormalitiesHP:0003458
  • Feeding difficulties in infancyHP:0008872
  • Muscle spasmHP:0003394
  • Progressive distal muscle weaknessHP:0009063

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

  • ArrhythmiaHP:0011675
  • Cardiac conduction abnormalityHP:0031546
  • DysphagiaHP:0002015