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Lower motor neuron syndrome with late-adult onset

ORPHA:276435 · Disease · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(1)

  • Distal lower limb muscle weaknessHP:0009053

Frequent (79-30%)(11)

  • AreflexiaHP:0001284
  • Cold-induced muscle crampsHP:0003449
  • Elevated circulating creatine kinase activityHP:0003236
  • EMG: neuropathic changesHP:0003445
  • Exercise-induced muscle crampsHP:0003710
  • FasciculationsHP:0002380
  • Gait disturbanceHP:0001288
  • Gastrocnemius myalgiaHP:0031921
  • HyporeflexiaHP:0001265
  • Increased intramuscular fatHP:0008985
  • Proximal lower limb muscle weaknessHP:0008994

Occasional (29-5%)(10)

  • Abnormal sensory nerve conduction velocityHP:0040132
  • DysphagiaHP:0002015
  • EMG: myopathic abnormalitiesHP:0003458
  • Impaired distal vibration sensationHP:0006886
  • Intrinsic hand muscle atrophyHP:0008954
  • Proximal upper limb muscle weaknessHP:0008997
  • Ragged-red muscle fibersHP:0003200
  • Rimmed vacuolesHP:0003805
  • Tongue fasciculationsHP:0001308
  • TremorHP:0001337

Very rare (<4-1%)(3)

  • Abnormality of the respiratory systemHP:0002086
  • Bulbar signsHP:0002483
  • Inability to walkHP:0002540

Excluded (0%)(1)

  • Upper motor neuron dysfunctionHP:0002493