Joint hypermobility and genetic collagen disorders: are they related?
Hypermobility
Clinic, UCL Hospitals, London W1P 9PG, UK
Correspondence to: Professor R Grahame, Department of Rheumatology, Arthur Stanley House, 40-50 Tottenham Street, London W1P 9PG, UK.
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Introduction |
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Joint hypermobility and genetic collagen disorders: are they
related? If this same question had been posed a quarter of a century
ago, the answer would have been very different from what is appropriate
today. Conventional wisdom1 has always favoured the view
that "common" hypermobility merely represents the upper end of a
Gaussian distribution of the "normal" joint range of movement. That
view is now challenged by the notion that this variety of
hypermobility, at least as far as it is seen from the clinic, may
represent a departure from "normality". The inference is that it is
a forme fruste of a genetic connective tissue disease (or heritable
disorder of connective tissue (HDCT)). This does not, of course,
exclude the possibility that "common" hypermobility, such as is
seen in musicians and dancers, may be non-pathogenic polymorphisms, as
a result of minor variations in extracellular matrix genes such as
collagens, elastin, fibrillins,
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