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Myotonia fluctuans

ORPHA:99734 · Disease · Disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(2)

  • EMG: myotonic dischargesHP:0100284
  • Muscle stiffnessHP:0003552

Frequent (79-30%)(4)

  • Exercise-induced muscle stiffnessHP:0008967
  • Myotonia of the lower limbHP:0012902
  • Myotonia of the upper limbHP:0012903
  • Spasticity of facial musclesHP:0002491

Occasional (29-5%)(6)

  • Blurred visionHP:0000622
  • DiplopiaHP:0000651
  • FatigueHP:0012378
  • Handgrip myotoniaHP:0012899
  • MyalgiaHP:0003326
  • Myotonia of the faceHP:0012900

Very rare (<4-1%)(9)

  • ApneaHP:0002104
  • Choking episodesHP:0030842
  • Gait disturbanceHP:0001288
  • LaryngospasmHP:0025425
  • Myotonia with warm-up phenomenonHP:0003740
  • Neonatal hypotoniaHP:0001319
  • Proximal muscle weaknessHP:0003701
  • StrabismusHP:0000486
  • StridorHP:0010307

Excluded (0%)(1)

  • Cold-sensitive myotoniaHP:0012904