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Autosomal recessive spastic ataxia of Charlevoix-Saguenay

ORPHA:98 · Disease · Disorder

HPO 表現型（共 38 項）

Frequent (79-30%)(27)

  • Abnormal cerebellar peduncle morphologyHP:0011931
  • Abnormal cerebellum morphologyHP:0001317
  • Abnormal motor evoked potentialsHP:0012896
  • Abnormal pons morphologyHP:0007361
  • Abnormal pyramidal signHP:0007256
  • Arachnoid cystHP:0100702
  • AtaxiaHP:0001251
  • Babinski signHP:0003487
  • Cerebellar atrophyHP:0001272
  • Cerebellar vermis hypoplasiaHP:0001320
  • Demyelinating peripheral neuropathyHP:0007108
  • DysarthriaHP:0001260
  • DysmetriaHP:0001310
  • Gait disturbanceHP:0001288
  • Gaze-evoked horizontal nystagmusHP:0007979
  • Hypermyelinated retinal nerve fibersHP:0007922
  • Hypoplasia of the corpus callosumHP:0002079
  • Lower limb spasticityHP:0002061
  • Mitral valve prolapseHP:0001634
  • Muscle weaknessHP:0001324
  • Parietal cortical atrophyHP:0012104
  • Peripheral neuropathyHP:0009830
  • Progressive cerebellar ataxiaHP:0002073
  • Sensorimotor neuropathyHP:0007141
  • SpasticityHP:0001257
  • Unsteady gaitHP:0002317
  • Urinary incontinenceHP:0000020

Occasional (29-5%)(10)

  • Abnormal foot morphologyHP:0001760
  • Absent Achilles reflexHP:0003438
  • Atypical behaviorHP:0000708
  • Distal amyotrophyHP:0003693
  • DysphagiaHP:0002015
  • Foot dorsiflexor weaknessHP:0009027
  • Gait ataxiaHP:0002066
  • Impaired tactile sensationHP:0010830
  • Impaired vibratory sensationHP:0002495
  • Intention tremorHP:0002080

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

  • ImpotenceHP:0000802