Table of Contents
Progeria Definition and Diagnostic Path
A very rare genetic disorder, commonly called severe premature aging, that arises from a MUTATION in a single GENE on CHROMOSOME 1 called lamin A (LMNA). The gene encodes a protein, also called lamin A, that is important for proper functioning of the membrane of the cell nucleus. In progeria this protein is abnormal, resulting in rapid deterioration of the nuclear membrane and destruction of the cell.
The diagnostic path is primarily clinical, based on symptoms. Most children who have progeria die of cardiovascular problems such as HEART ATTACK or STROKE by the age of 12 or 13 years. As a consequence of research into the causes of progeria, scientists have discovered other mutations of the same gene that cause uncommon forms of MUSCULAR DYSTROPHY. At the present time there is no treatment, cure, or prevention for progeria.