Progeria

Progeria

Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), is an extremely rare genetic disorder where symptoms resembling aging are manifested at a very early age. Progeria is one of several progeroid syndromes such as Wiedemann-Rautenstrauch syndrome or Werner syndrome. The disorder has a very low incidence rate, occurring in an estimated 1 per 8 million live births. Those born with progeria typically live to their mid-teens to early twenties. It is a genetic condition that occurs as a new mutation in the LMNA gene, and is rarely inherited, as patients usually do not live to reproduce. The disease affects both sexes and all races equally. The LMNA gene mutation causes it to express an abnormal protein. When cells use this protein, called progerin, they break down more easily. Progerin builds up in many cells of kids with progeria, causing them to grow old quickly.

Scientists are particularly interested in progeria because it might reveal clues about the normal process of aging. Children with progeria live very normal lives and the only aspects that prevent them from doing anything “normal” is their height and issues with stiff joints. Progeria was first described in 1886 by Jonathan Hutchinson. It was also described independently in 1897 by Hastings Gilford. The condition was later named Hutchinson–Gilford progeria syndrome. Unlike many genetic mutations, progeria isn’t passed down in families. Rather, the gene change is a chance occurrence that researchers believe affects a single sperm or egg just before conception. Neither parent is a carrier, so the mutations in the child’s genes are new (de novo).

Symptoms

Most kids with progeria look healthy when they’re born, but they start to show signs of the disease during their first year. The earliest symptoms may include a failure to thrive and a localized scleroderma-like skin condition. As children with progeria get older, they get diseases you’d expect to see in people age 50 and older such as: limited growth, full-body alopecia (hair loss), and a distinctive appearance (a small face with a shallow recessed jaw, and a pinched nose). Signs and symptoms of this progressive disease tend to become more marked as the child ages. Later, Progeria causes wrinkled skin, atherosclerosis, kidney failure, loss of eyesight, and cardiovascular problems. Scleroderma, a hardening and tightening of the skin on trunk and extremities of the body, is prevalent. Kids diagnosed with this disorder usually have small, fragile bodies, like those of elderly people. Their faces are usually wrinkled, with a larger head in relation to the body, a narrow face and a beak nose. Prominent scalp veins are noticeable (made more obvious by alopecia), as well as prominent eyes. Musculoskeletal degeneration causes loss of body fat and muscle, stiff joints, hip dislocations, and other symptoms generally absent in the non-elderly population. Progeria doesn’t affect a child’s intelligence or brain development at all.