Progeria Symptoms Causes Diagnosis Treatment Guide

Progeria Disease

Progeria is a most rare and severe genetic disorder which strikes at an early age. The affected person ages prematurely with a life expectency of thrirteen years. This disease is also called “Hutchinson–Gilford progeria syndrome” named after Jonathan Hutchinson and Hastings Gilford who arrived at the explanation of the disease independently. This is not an inheritable disease and is mainly cuased by changes in mutation. The occurance of this disease is rarest of rare striking one per eight million live births. The symptoms of this disease can be easily identified out as the affected child fails to have normal physical growth accompanied by localized hardening of skin.

In the post infancy stage, more and more conditions become explicit as the child develops alopecia (loss of hari). He/she would have a distinctive appearance characterised by small face and jaw with a pinched nose. As time passes, the child becomes fagile with wrinkled skin, atherosclerosis, and cardiovascular problems. The cause of this disease is as mentioned above due to change in the mutation where the protein called Lamin A becomes redundant. This protein is a part of main building block of nuclear components required by the body growth.

Progeria can be suspected in the initial stages with changes in the skin, abnormal growth and hair loss. It can be confirmed with a genetic test. Though the diagnosis is easy, there is no successful treatement for this disease. However, measures can be taken to reduce the complications like by-pass surgery for cardiovascular problems, respiratory disorders and arthiritic etc. High calorie intake would also be beneficial. In this regard, some attempts are being made to reduce the complications associated with progeria with growth harmone treatment.