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Stiff person spectrum disorder

ORPHA:3198 · Disease · Disorder

HPO 表現型（共 31 項）

Very frequent (99-80%)(5)

  • AnxietyHP:0000739
  • EMG abnormalityHP:0003457
  • FallsHP:0002527
  • HyperhidrosisHP:0000975
  • Intermittent painful muscle spasmsHP:0011964

Frequent (79-30%)(18)

  • AgoraphobiaHP:0000756
  • Anti-Amphiphysin antibodyHP:5000002
  • Anti-DPPX antibodyHP:5000007
  • Anti-GAD65 antibodyHP:5000011
  • Anti-Gephyrin antibodyHP:5000012
  • Anti-GlyR antibodyHP:5000014
  • Autoimmune antibody positivityHP:0030057
  • Cognitive impairmentHP:0100543
  • ConstipationHP:0002019
  • DysphagiaHP:0002015
  • Emotional labilityHP:0000712
  • Exaggerated startle responseHP:0002267
  • Gait disturbanceHP:0001288
  • HyperreflexiaHP:0001347
  • MyalgiaHP:0003326
  • MyoclonusHP:0001336
  • Paraspinal muscle hypertrophyHP:0012894
  • RigidityHP:0002063

Occasional (29-5%)(7)

  • ApneaHP:0002104
  • Diabetes mellitusHP:0000819
  • DiplopiaHP:0000651
  • Freezing of gaitHP:0031825
  • HypothyroidismHP:0000821
  • Lumbar hyperlordosisHP:0002938
  • VertigoHP:0002321

Excluded (0%)(1)

  • Abnormal nervous system morphologyHP:0012639