← 返回搜尋

Juvenile amyotrophic lateral sclerosis

ORPHA:300605 · Disease · Disorder

HPO 表現型（共 46 項）

Very frequent (99-80%)(6)

  • Amyotrophic lateral sclerosisHP:0007354
  • Distal amyotrophyHP:0003693
  • Lower limb spasticityHP:0002061
  • Muscle weaknessHP:0001324
  • Skeletal muscle atrophyHP:0003202
  • Upper limb spasticityHP:0006986

Frequent (79-30%)(15)

  • Abnormal speech patternHP:0002167
  • Arm dystoniaHP:0031960
  • Brisk reflexesHP:0001348
  • Bulbar signsHP:0002483
  • CNS hypomyelinationHP:0003429
  • Delayed ability to walkHP:0031936
  • Distal muscle weaknessHP:0002460
  • DystoniaHP:0001332
  • Gait disturbanceHP:0001288
  • HypertoniaHP:0001276
  • Inability to walkHP:0002540
  • Lower-limb joint contractureHP:0005750
  • Muscle fiber atrophyHP:0100295
  • Spastic diplegiaHP:0001264
  • Upper-limb joint contractureHP:0100360

Occasional (29-5%)(25)

  • Abnormal cerebellum morphologyHP:0001317
  • AnarthriaHP:0002425
  • AtaxiaHP:0001251
  • Atypical behaviorHP:0000708
  • Axial dystoniaHP:0002530
  • CachexiaHP:0004326
  • ChoreaHP:0002072
  • ClonusHP:0002169
  • Cognitive impairmentHP:0100543
  • DysphagiaHP:0002015
  • Gastrostomy tube feeding in infancyHP:0011471
  • Global developmental delayHP:0001263
  • Head titubationHP:0002599
  • MicrocephalyHP:0000252
  • Neck flexor weaknessHP:0003722
  • NystagmusHP:0000639
  • OpisthotonusHP:0002179
  • Oromandibular dystoniaHP:0012048
  • ParkinsonismHP:0001300
  • Proximal muscle weaknessHP:0003701
  • RetrocollisHP:0002544
  • ScoliosisHP:0002650
  • Supranuclear gaze palsyHP:0000605
  • Tip-toe gaitHP:0030051
  • Urinary incontinenceHP:0000020