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Acetazolamide-responsive myotonia

ORPHA:99736 · Disease · Disorder

HPO 表現型（共 12 項）

Very frequent (99-80%)(3)

  • HypertoniaHP:0001276
  • MyalgiaHP:0003326
  • MyotoniaHP:0002486

Frequent (79-30%)(3)

  • Chest painHP:0100749
  • EMG abnormalityHP:0003457
  • Muscle spasmHP:0003394

Occasional (29-5%)(6)

  • DysphagiaHP:0002015
  • Gait disturbanceHP:0001288
  • HypothyroidismHP:0000821
  • OphthalmoparesisHP:0000597
  • OphthalmoplegiaHP:0000602
  • Skeletal muscle hypertrophyHP:0003712