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Juvenile primary lateral sclerosis

ORPHA:247604 · Disease · Disorder

HPO 表現型（共 15 項）

Very frequent (99-80%)(9)

  • Abnormal pyramidal signHP:0007256
  • Abnormal upper motor neuron morphologyHP:0002127
  • Gait imbalanceHP:0002141
  • HyperreflexiaHP:0001347
  • Muscle weaknessHP:0001324
  • Pseudobulbar affectHP:0002193
  • Spastic gaitHP:0002064
  • Spastic tetraparesisHP:0001285
  • SpasticityHP:0001257

Frequent (79-30%)(3)

  • DysphagiaHP:0002015
  • Loss of speechHP:0002371
  • Spastic dysarthriaHP:0002464

Occasional (29-5%)(3)

  • Abnormality of the bladderHP:0000014
  • Sensory neuropathyHP:0000763
  • Skeletal muscle atrophyHP:0003202