Autosomal dominant diseases

• Huntington Disease 1/10,000

  • late onset, involuntary movements, dementia

• Myotonic Dystrophy 1/8,500

  • prolonged muscle contraction (myotonia), muscle atrophy, cataracts

• Neurofibramomatosis, type I 1/4,000-5,000

  • tumours on the peripheral nerves of the head, neck and body; pigmented cafŽ-au-lait spots

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