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Overview and Historical Perspective 

Overview and Historical Perspective
Chapter:
Overview and Historical Perspective
Author(s):

Gerald Stern

DOI:
10.1093/med/9780199609536.003.0001
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date: 29 February 2020

While early descriptions were inextricably influenced by mythology, magic, religion, superstition, traditional philosophies, and interpretations by shamans, obvious disorders of movement should have attracted ‘clinical’ attention. Interpretation of texts, such as the above, continue to remain uncertain. Certain early observations were remarkably sophisticated. In the Holy City of Varanasi (formerly Benares), within the Hindu University of India, original Sanskrit texts and incunabula reveal the contributions of Ayurvedic medicine (5000–3000 BC ). So far, apart from a few Mendelian single-gene neurodegenerative disorders such as Huntington’s disease, tuberous sclerosis, spinal muscular atrophy, and myotonic dystrophies, the gap between genotype and phenotype remains vast and largely incomprehensible to clinicians. It seems that a quantum leap or paradigm shift is now required for us to evolve from traditional disease definitions and embrace the concept that all disease manifestations must be understood in complex molecular terms. Definitions such as ‘the emergent properties of molecular networks as opposed to the core biological processes driven by responses to changes in a small number of genes’ do not yet come easily to clinicians.

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