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Proximal myotonic myopathy

ORPHA:606 · Disease · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(6)

  • Axial muscle weaknessHP:0003327
  • CataractHP:0000518
  • MyalgiaHP:0003326
  • MyotoniaHP:0002486
  • Proximal muscle weaknessHP:0003701
  • Skeletal muscle atrophyHP:0003202

Frequent (79-30%)(9)

  • Abdominal painHP:0002027
  • ConstipationHP:0002019
  • Decreased circulating immunoglobulin concentrationHP:0004313
  • DysphagiaHP:0002015
  • Insulin insensitivityHP:0008189
  • Muscle stiffnessHP:0003552
  • Posterior subcapsular cataractHP:0007787
  • Sensorineural hearing impairmentHP:0000407
  • Type II diabetes mellitusHP:0005978

Occasional (29-5%)(15)

  • Abnormality of thyroid physiologyHP:0002926
  • Brisk reflexesHP:0001348
  • Calf muscle hypertrophyHP:0008981
  • Cardiac conduction abnormalityHP:0031546
  • CardiomyopathyHP:0001638
  • Cognitive impairmentHP:0100543
  • Excessive daytime somnolenceHP:0001262
  • FatigueHP:0012378
  • HyperhidrosisHP:0000975
  • HyperlipidemiaHP:0003077
  • Male hypogonadismHP:0000026
  • Obstructive sleep apneaHP:0002870
  • Restless legsHP:0012452
  • Sleep disturbanceHP:0002360
  • Weakness of facial musculatureHP:0030319