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Myopathy and diabetes mellitus

ORPHA:2596 · Disease · Disorder

HPO 表現型（共 32 項）

Very frequent (99-80%)(3)

  • Proximal amyotrophyHP:0007126
  • Skeletal myopathyHP:0003756
  • Type I diabetes mellitusHP:0100651

Frequent (79-30%)(9)

  • Babinski signHP:0003487
  • Difficulty climbing stairsHP:0003551
  • Difficulty runningHP:0009046
  • Exercise intoleranceHP:0003546
  • Hyporeflexia of upper limbsHP:0012391
  • Inability to walkHP:0002540
  • Lower limb hyperreflexiaHP:0002395
  • Progressive proximal muscle weaknessHP:0009073
  • Shoulder girdle muscle weaknessHP:0003547

Occasional (29-5%)(13)

  • Distal lower limb amyotrophyHP:0008944
  • DysarthriaHP:0001260
  • Frequent fallsHP:0002359
  • Moderate intellectual disabilityHP:0002342
  • MyalgiaHP:0003326
  • Pelvic girdle muscle weaknessHP:0003749
  • Peripheral axonal neuropathyHP:0003477
  • Progressive cerebellar ataxiaHP:0002073
  • Respiratory distressHP:0002098
  • Sternocleidomastoid amyotrophyHP:0012036
  • Tip-toe gaitHP:0030051
  • Weakness of facial musculatureHP:0030319
  • Weakness of orbicularis oculi muscleHP:0012507

Very rare (<4-1%)(7)

  • Achilles tendon contractureHP:0001771
  • DeliriumHP:0031258
  • DementiaHP:0000726
  • Impaired vibratory sensationHP:0002495
  • Neonatal hypotoniaHP:0001319
  • SchizophreniaHP:0100753
  • Sensorineural hearing impairmentHP:0000407