Abstract
HGPS (Hutchinson-Gilford -Progeria syndrome) - JSAS- Print ISSN No: - Online ISSN No:- 2582-6387 Article DOI No:- 10.18231/j.jsas.2020.006, IP Journal of Surgery and Allied Sciences-IP J Surg Allied Sci
Highlights
Hutcinson -Gilford -Progeria syndrome is a rare, fatal, autosomal dominant premature aging disease
HGPS was first described at the end of the 19th century by Jonathan Hutchinson and Hastings Gilford
Incidence is 1 in 40,00,000 live births with no gender, ethnic or regional bias. It is caused by single base mutation in LMNA, results in production of mutant lamin A protein called progerin
Summary
Introduction Hutcinson -Gilford -Progeria syndrome is a rare, fatal, autosomal dominant premature aging disease. Progerin is found In increased concentration in skin, vascular wall of normal older compared to younger individuals. Harrison’s sulcus with Joints stiffness present at knee, hip and neck and general muscle wasting. Motor examination revealed showed muscle wasting with increased tone and decreased power on both sides.
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