Abstract

Hutchinson– Gilford Progeria Syndrome: A Review

Hutchinson– Gilford Progeria Syndrome is a very rare disorder characterized by premature ageing caused due to mutation in LMNA gene. The child born with this disorder shows features of old age from first year of birth and generally dies in teenage. The clinical symptoms include alopecia, thin skin, stiffness of joints etc. All of the children suffering from this disease appear identical. The pathophysiology of disease is not very clearly understood. Various methods for diagnosis are being developed and clinical trials on some drugs that may be used in treatment are being carried out. The aim of present review is to understand the various aspects of disease with special emphasis on pathophysiology, symptoms, recent trend in treatment and future opportunities.


Author(s): Pankaj Rakha, Arun Gupta, Gitika Dhingra and Manju Nagpal

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