Diseases Associated with Chorea

  1. Ataxia-Telangiectasia and Related Conditions

    • ATX–ATM (Ataxia-Telangiectasia Mutated gene)
      A progressive condition involving cerebellar ataxia, oculomotor apraxia, immunodeficiency, and increased risk of malignancies. Chorea is a possible symptom.
    • ATX–APTX (Aprataxin gene mutation)
      Associated with Ataxia with Oculomotor Apraxia Type 1 (AOA1), presenting with ataxia, dystonia, and chorea.
    • ATX–SETX (Senataxin gene mutation)
      Found in Ataxia with Oculomotor Apraxia Type 2 (AOA2), with symptoms including ataxia and involuntary movements like chorea.
    • ATX–MRE11A (MRE11A gene mutation)
      Related to Ataxia-Telangiectasia-like disorder (ATLD), involving ataxia and chorea.
    • ATX–OPA3 (OPA3 gene mutation)
      Associated with 3-Methylglutaconic Aciduria Type III (Costeff syndrome), including ataxia, dystonia, and chorea.
  2. Neurodegeneration with Brain Iron Accumulation (NBIA)

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