DEFINITION OF
PROGERIA
Progeria is a rare
genetic disorder that causes children to age prematurely. The classic type of
childhood progeria is Hutchinson-Gilford syndrome, which is commonly referred
to as progeria. It is characterized by dwarfism, baldness, pinched nose, small face
and small jaw relative to the head size, delayed tooth formation, aged-looking
skin, diminution of fat beneath the skin, stiff joints, and premature
arteriosclerosis.
Children with the
progeria syndrome usually appear normal at birth. However, within a year, their
growth rate slows and their appearance begins to change and age prematurely.
They often suffer from symptoms typically seen in elderly people, especially
severe cardiovascular disease. Death occurs on average at age 13, usually from
heart attack or stroke.
CAUSES OF PROGERIA
Researchers have
discovered a single gene mutation responsible for Hutchinson-Gilford progeria
syndrome.
The gene is known as lamin A (LMNA), which makes a protein necessary
to holding the center (nucleus) of a cell together. Researchers believe the
genetic mutation renders cells unstable, which appears to lead to progeria's
characteristic aging process.
Unlike many genetic
mutations, Hutchinson-Gilford 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 children's genes are new (de novo).
Treatments
and drugs
There's no cure for
progeria. Regular monitoring for cardiovascular disease may help with managing
your child's condition. Some children undergo coronary artery bypass surgery or
dilation of cardiac arteries (angioplasty) to slow the progression of
cardiovascular disease.
Certain therapies may
ease some of the signs and symptoms. They include:
·Low-dose aspirin. A daily dose may
help prevent heart attacks and stroke.
· Physical and occupational therapy.
These may help with joint stiffness and hip problems, and may allow your child
to remain active.
· High-calorie dietary supplements.
Including extra calories in your child's daily diet may help prevent weight
loss and ensure adequate nutrition.
· Feeding tube. Infants who feed poorly
may benefit from a feeding tube and a syringe. You can use the syringe to push
pumped breast milk or formula through the tube to make it easier for your child
to feed.
· Extraction of primary teeth. Your
child's permanent teeth may start coming in before his or her baby teeth fall
out. Extraction may help prevent problems associated with the delayed loss of
baby teeth, including overcrowding and developing a second row of teeth when
permanent teeth come in.
Drugs known as
farnesyltransferase inhibitors (FTIs), which were developed for treating
cancer, have shown promise in laboratory studies in correcting the cell defects
that cause progeria. FTIs are currently being studied in human clinical trials
for treatment of progeria.
