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Adult-onset autosomal dominant leukodystrophy

ORPHA:99027 · Disease · Disorder

HPO 表現型（共 61 項）

Very frequent (99-80%)(2)

  • Abnormal autonomic nervous system physiologyHP:0012332
  • AtaxiaHP:0001251

Frequent (79-30%)(17)

  • Abnormal auditory evoked potentialsHP:0006958
  • Abnormal cerebellar peduncle morphologyHP:0011931
  • Abnormal pyramidal signHP:0007256
  • Abnormality of somatosensory evoked potentialsHP:0007377
  • Atrophy of the spinal cordHP:0006827
  • Atrophy/Degeneration affecting the brainstemHP:0007366
  • Autonomic bladder dysfunctionHP:0005341
  • Babinski signHP:0003487
  • Distal sensory impairmentHP:0002936
  • Gait ataxiaHP:0002066
  • Gait disturbanceHP:0001288
  • Hyperintensity of cerebral white matter on MRIHP:0030890
  • HyperreflexiaHP:0001347
  • Muscle weaknessHP:0001324
  • SpasticityHP:0001257
  • TremorHP:0001337
  • Upper motor neuron dysfunctionHP:0002493

Occasional (29-5%)(38)

  • Abnormality of eye movementHP:0000496
  • Action tremorHP:0002345
  • AnhidrosisHP:0000970
  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • Aspiration pneumoniaHP:0011951
  • Atrophy/Degeneration affecting the cerebrumHP:0007369
  • ClonusHP:0002169
  • Cognitive impairmentHP:0100543
  • ConstipationHP:0002019
  • Decreased sweating due to autonomic dysfunctionHP:0007480
  • DysarthriaHP:0001260
  • DysdiadochokinesisHP:0002075
  • DysmetriaHP:0001310
  • DysphagiaHP:0002015
  • EEG with generalized slow activityHP:0010845
  • Erectile dysfunctionHP:0100639
  • Flexion contractureHP:0001371
  • Functional motor deficitHP:0004302
  • Head titubationHP:0002599
  • HypertoniaHP:0001276
  • HypothermiaHP:0002045
  • Impaired distal vibration sensationHP:0006886
  • Impaired proprioceptionHP:0010831
  • ImpotenceHP:0000802
  • Intention tremorHP:0002080
  • MalnutritionHP:0004395
  • MyalgiaHP:0003326
  • NystagmusHP:0000639
  • Orthostatic hypotensionHP:0001278
  • Pseudobulbar signsHP:0002200
  • Recurrent urinary tract infectionsHP:0000010
  • Spastic gaitHP:0002064
  • Temperature instabilityHP:0005968
  • TetraparesisHP:0002273
  • Upper limb postural tremorHP:0007351
  • Urinary retentionHP:0000016
  • Urinary urgencyHP:0000012

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

  • Atypical behaviorHP:0000708
  • DementiaHP:0000726
  • Increased CSF protein concentrationHP:0002922
  • Sensorineural hearing impairmentHP:0000407