Progeria diagnostic study of choice

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

Overview

There is no single diagnostic study of choice for the diagnosis of Hutchinson-Gilford progeria syndrome (HGPS).

Diagnostic Study of Choice

• There is no single diagnostic study of choice for the diagnosis of Hutchinson-Gilford progeria syndrome (HGPS), but Hutchinson-Gilford progeria syndrome (HGPS) can be diagnosed based on clinical presentation and genetic testing of the gene LMNA gene (c.1824C>T[p.Gly608Gly]).

• The diagnosis of Hutchinson-Gilford progeria syndrome (HGPS) is based on the clinical presentation, which include the following:
  • Failure to thrive in the first year of life
  • Very peculiar facial presentation which include:
    • Micrognathia(Jaw is undersized)
    • Prominent eyes(protruding eyes)
    • Circumoral cyanosis(blue discoloration around the mouth)
  • Alopecia
  • Prominent scalp veins
  • Sclerotic skin changes
  • Joint contractures
  • Decreased range of motion in the joints