autosomal dominant

• ARCHONDROPLASIA

  Form of dwarfism

  Characterised by : 

  • Short limbs
  • Prominent head
  • Difficulty walking 
  • Normal intelligence
• FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY

  Rare form of muscular dystrophy affecting the facial muscles

  Other muscles are gradually affected

  → difficult to raise the arms above the shoulders

  → to lift objects 

  → to walk normally
• HUNTINGTON'S DISEASE

  Death of brain cells

  Symptoms usually appear after 40

  Causes :

  • Changes to mood and mental ability
  • Involuntary flailing movements of arms and legs
  • Difficulty making voluntary movements of the limbs
  • Writhing movements of the hands, head, trunk and feet
  • Progressive loss of the ability to think clearly (dementia)
• HUNTINGTON'S DISEASE

  Genetic screening is available for people with parents with Huntington’s 

  • Blood from participants and close relatives is collected
  • Analysed for presence of the established gene markers 
  • Establishes individual’s risk of developing condition
• NEUROFIBROMATOSIS

  Numerous tumours along the peripheral nerves

  Tumours made of a dense proliferation of nervous and fibrous tissue

  Causes : 

  • Abnormalities of skin and flesh 
  • Distortions of bone structure