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Idiopathic camptocormia

ORPHA:1320 · Morphological anomaly · Disorder

HPO 表現型（共 33 項）

Frequent (79-30%)(9)

  • Abnormal cerebral white matter morphologyHP:0002500
  • Abnormal intervertebral disk morphologyHP:0005108
  • Abnormality of the nervous systemHP:0000707
  • Cerebral atrophyHP:0002059
  • DystoniaHP:0001332
  • EMG: impaired neuromuscular transmissionHP:0100285
  • EMG: myopathic abnormalitiesHP:0003458
  • EMG: neuropathic changesHP:0003445
  • OsteoarthritisHP:0002758

Occasional (29-5%)(8)

  • Abnormal inflammatory responseHP:0012647
  • Abnormality of movementHP:0100022
  • Abnormality of the headHP:0000234
  • Amyotrophic lateral sclerosisHP:0007354
  • Elevated circulating creatine kinase activityHP:0003236
  • EMG: chronic denervation signsHP:0003444
  • ParkinsonismHP:0001300
  • Proximal spinal muscular atrophyHP:0006959

Very rare (<4-1%)(16)

  • Abnormal basal ganglia morphologyHP:0002134
  • Abnormal muscle fiber dysferlinHP:0030113
  • Abnormal pons morphologyHP:0007361
  • Abnormal synaptic transmission at the neuromuscular junctionHP:0003398
  • Abnormality of the immune systemHP:0002715
  • Alzheimer diseaseHP:0002511
  • Fatigable weakness of skeletal musclesHP:0030197
  • Fatty replacement of skeletal muscleHP:0012548
  • Frontotemporal dementiaHP:0002145
  • Lewy bodiesHP:0100315
  • Mitochondrial myopathyHP:0003737
  • MyelitisHP:0012486
  • MyositisHP:0100614
  • MyotoniaHP:0002486
  • Spinal canal stenosisHP:0003416
  • SyringomyeliaHP:0003396