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Amyotrophic lateral sclerosis

ORPHA:803 · Disease · Disorder

HPO 表現型（共 47 項）

Obligate (100%)(1)

  • Amyotrophic lateral sclerosisHP:0007354

Very frequent (99-80%)(3)

  • Generalized muscle weaknessHP:0003324
  • Motor neuron atrophyHP:0007373
  • NeurodegenerationHP:0002180

Frequent (79-30%)(32)

  • Abnormality on pulmonary function testingHP:0030878
  • AnxietyHP:0000739
  • Atypical behaviorHP:0000708
  • Babinski signHP:0003487
  • Cognitive impairmentHP:0100543
  • DepressionHP:0000716
  • Distal amyotrophyHP:0003693
  • DroolingHP:0002307
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • DysphoniaHP:0001618
  • DyspneaHP:0002094
  • Emotional labilityHP:0000712
  • FasciculationsHP:0002380
  • Fatigable weakness of bulbar musclesHP:0030192
  • Fatigable weakness of respiratory musclesHP:0030196
  • Fatigable weakness of swallowing musclesHP:0030195
  • FatigueHP:0012378
  • Hoffmann signHP:0031993
  • HyperreflexiaHP:0001347
  • Lower limb muscle weaknessHP:0007340
  • Muscle spasmHP:0003394
  • PainHP:0012531
  • ParalysisHP:0003470
  • Progressive distal muscular atrophyHP:0008955
  • Respiratory failureHP:0002878
  • Skeletal muscle atrophyHP:0003202
  • SpasticityHP:0001257
  • Tongue atrophyHP:0012473
  • Upper limb muscle weaknessHP:0003484
  • Weight lossHP:0001824
  • XerostomiaHP:0000217

Occasional (29-5%)(10)

  • CachexiaHP:0004326
  • Foot dorsiflexor weaknessHP:0009027
  • Frontotemporal dementiaHP:0002145
  • Jaw hyperreflexiaHP:0033683
  • Language impairmentHP:0002463
  • OrthopneaHP:0012764
  • Sleep disturbanceHP:0002360
  • Spastic paraparesisHP:0002313
  • Steppage gaitHP:0003376
  • Tongue fasciculationsHP:0001308

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

  • LaryngospasmHP:0025425