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Primary lateral sclerosis

ORPHA:35689 · Disease · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(5)

  • Abnormal upper motor neuron morphologyHP:0002127
  • Babinski signHP:0003487
  • Generalized hyperreflexiaHP:0007034
  • SpasticityHP:0001257
  • Upper motor neuron dysfunctionHP:0002493

Frequent (79-30%)(13)

  • DysphagiaHP:0002015
  • EMG: chronic denervation signsHP:0003444
  • Gait imbalanceHP:0002141
  • Hoffmann signHP:0031993
  • Impaired smooth pursuitHP:0007772
  • IncoordinationHP:0002311
  • Loss of speechHP:0002371
  • Progressive spastic paraparesisHP:0007199
  • Pseudobulbar signsHP:0002200
  • Spastic dysarthriaHP:0002464
  • Spastic gaitHP:0002064
  • Urinary urgencyHP:0000012
  • Weakness due to upper motor neuron dysfunctionHP:0010549

Occasional (29-5%)(5)

  • Atrophy of the spinal cordHP:0006827
  • Cervical spinal cord atrophyHP:0010873
  • Cognitive impairmentHP:0100543
  • Hypernasal speechHP:0001611
  • Motor axonal neuropathyHP:0007002

Excluded (0%)(3)

  • Abnormal lower motor neuron morphologyHP:0002366
  • Abnormality of extrapyramidal motor functionHP:0002071
  • Somatic sensory dysfunctionHP:0003474