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Introduces the clinical relevance of myotonic dystrophy and Huntington’s disease. In two parts: 1) myotonic dystrophy: a consultant in clinical genetics talks to a family where the mother does not have the...
Outlines the principles of genetic engineering and looks at its application to the study and treatment of three major inherited diseases: haemophilia A, Huntington’s disease and cystic fibrosis.
Presents the medical, social and genetic aspects of Huntington’s chorea as exemplified in three families. Brief discussion on the patho-physiological changes in the basal ganglia and the role of dopamine...
The patient, aged 13, shows the characteristic grimacing and semi-purposive, non-repetitive movements of chorea. Hypotonia is present and there is poor coordination of respiratory movements. The absence of...
Lesson 7 in a series of ten lectures about the human brain, presented by Professor Jan Schnupp. This lecture looks at the basal ganglia and their role in regulating activity of the brain’s motor systems....
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