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Metachromatic leukodystrophy, juvenile form

ORPHA:309263 · Clinical subtype · Subtype of disorder

HPO 表現型（共 37 項）

Frequent (79-30%)(17)

  • Abnormal glycosphingolipid metabolismHP:0004343
  • Abnormal social behaviorHP:0012433
  • ClumsinessHP:0002312
  • Decreased nerve conduction velocityHP:0000762
  • Developmental regressionHP:0002376
  • DysarthriaHP:0001260
  • DystoniaHP:0001332
  • Frequent fallsHP:0002359
  • Generalized hypotoniaHP:0001290
  • HyporeflexiaHP:0001265
  • Increased CSF protein concentrationHP:0002922
  • LeukodystrophyHP:0002415
  • Muscle weaknessHP:0001324
  • Optic atrophyHP:0000648
  • Punctate periventricular T2 hyperintense fociHP:0030081
  • Short attention spanHP:0000736
  • Urinary incontinenceHP:0000020

Occasional (29-5%)(18)

  • Abdominal distentionHP:0003270
  • Abnormality of metabolism/homeostasisHP:0001939
  • Abnormality of visual evoked potentialsHP:0000649
  • Babinski signHP:0003487
  • Bilateral sensorineural hearing impairmentHP:0008619
  • CholecystitisHP:0001082
  • DelusionHP:0000746
  • EMG: chronic denervation signsHP:0003444
  • Emotional labilityHP:0000712
  • HallucinationsHP:0000738
  • Intention tremorHP:0002080
  • Loss of speechHP:0002371
  • Progressive gait ataxiaHP:0007240
  • Progressive peripheral neuropathyHP:0007133
  • Progressive psychomotor deteriorationHP:0007272
  • Reduced visual acuityHP:0007663
  • SeizureHP:0001250
  • SpasticityHP:0001257

Very rare (<4-1%)(2)

  • Decerebrate rigidityHP:0025013
  • Vegetative stateHP:0031358