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Paramyotonia congenita of Von Eulenburg

ORPHA:684 · Disease · Disorder

HPO 表現型（共 19 項）

Frequent (79-30%)(16)

  • Cold paresisHP:0031372
  • Cold-sensitive myotoniaHP:0012904
  • DysphagiaHP:0002015
  • Facial muscle hypertrophyHP:0012892
  • Feeding difficultiesHP:0011968
  • Handgrip myotoniaHP:0012899
  • Muscle stiffnessHP:0003552
  • MyalgiaHP:0003326
  • MyotoniaHP:0002486
  • Myotonia of the faceHP:0012900
  • Myotonia of the jawHP:0012901
  • Myotonia of the upper limbHP:0012903
  • Neonatal hypotoniaHP:0001319
  • Neonatal inspiratory stridorHP:0004875
  • Paradoxical myotoniaHP:0011809
  • Percussion myotoniaHP:0010548

Occasional (29-5%)(3)

  • Abnormal circulating potassium concentrationHP:0011042
  • EMG: myopathic abnormalitiesHP:0003458
  • Periodic hypokalemic paresisHP:0008153