Progeria Disease Facts

Progeria, also known as 'Hutchinson-Gilford progeria syndrome' (HGPS) is an extremely rare genetic condition. The condition is quite severe, and is characterized by accelerated rate of aging in young children. The child's body starts to age much faster, thereby manifesting the signs of aging at an early age.

The incidence of progeria is however, very low (it is reported to occur in 1 in 4 million newborns worldwide), and hence not known to many people. The disorder has so far inspired a few books, movies, animated films, series, and short films. This in turn, has created a greater awareness about it.

Progeria causes a young child to look like an aged individual. Children with this disorder can age at a rate which is eight to ten times higher than the normal rate. Severity of the condition is however, not restricted to physical appearance.

A child with progeria typically lives for about 13 years. Sometimes, children with this disorder can live into their late teens or early twenties, and in rare cases till their forties.

Dealing with Progeria

It was in the year 1886, when progeria was described for the first time by Jonathan Hutchinson, and later by Hastings Gilford in 1897. Till now, approximately 130 cases of progeria have been identified.

Many researches and studies have been conducted so far to find the causes as well as a cure for the disorder. But, scientists have achieved only limited success in this endeavor.

Causes

Not much was known about the causes of progeria even after several years from the time the condition was first described. Later, it was discovered that progeria is the result of a point mutation that takes place in the position 1824 of LMNA or Lamin A gene, where the component cytosine is replaced with thyamine.

Lamin A is the protein that helps to form the nuclear envelope. But when mutation takes place in the LMNA gene, it leads to the formation of an abnormal version of the lamin A protein, due to which the cells of the body become unstable and die prematurely.

This genetic mutation is generally not inherited, and believed to occur at the time of conception. Apart from progeria, there are some other conditions like, Werner's syndrome and Cockayne's syndrome, which are also associated with an accelerated rate of aging.

But, unlike these conditions, progeria is not associated with defective DNA repair. Moreover, these conditions exhibit a few, but not all the aspects of aging, and this is the reason why they are sometimes referred as 'segmental progerias'.

Signs and Symptoms

Children with progeria can look quite normal at birth, but eventually they fail to thrive properly, and develop the symptoms.

They usually develop some distinctive physical characteristics, like a fragile body and a small face and jaw as compared to the size of the head (skeletal dysplasia). Some other symptoms are:

• Below average height and weight
• Prominent eyes, and incomplete closure of the eyelids

• Small chin, thin lips
• Scleroderma like skin condition
• Alopecia (baldness), loss of eyelashes, eyebrows
• Appearance of scalp veins
• High pitched voice
• Beaked nose
• Ears stick out
• Decayed teeth or lack of teeth formation
• Spotty, wrinkled skin
• Loss of body fat and muscles
• Delayed dentition, abnormal tooth formation

Children with this genetic condition usually look quite similar, irrespective of their race or ethnicity. The disorder does not affect the mental growth and development of motor skills in affected children. However, the children usually suffer from several health issues. For example:

• Hearing loss
• Hip dislocation

• Low bone density
• Stiff joints, joint contractures
• Insulin resistance
• Cardiovascular diseases

Diagnosis and Treatment

Unlike other diseases and disorders, there are no specific diagnostic tests and examinations for progeria. The diagnosis is based entirely on the signs and symptoms, or the physical appearance of the sufferer.

The signs and symptoms of progeria become more apparent in the first or second year of life of the child. As far as treatment is concerned, progeria has no cure. Treatment is mainly aimed towards reducing the complications such as, heart and cardiovascular diseases associated with the condition.

So far, growth hormone treatment has been attempted for treating progeria, and farnesyltransferase inhibitors, originally developed for cancer, have also been proposed. Significant improvement in bone structure, weight gain, and the cardiovascular system was noticed when some children with progeria were treated with a farnesyltransferase inhibitor during clinical trials.

Only a few children with progeria exceed the age of 13 years, as most of them succumb to conditions like, atherosclerosis, cardiovascular diseases, heart attacks, and strokes, which normally affect the aging population. But, progeria patients usually do not have a predisposition to develop certain other age-related conditions such as, cataract, osteoarthritis, and cancer.

Currently, there are only 126 known cases of progeria in the entire world. In the recent times, the disease has generated lots of curiosity. Apart from finding a cure, scientists have another special interest in the research, as studies related to this disorder may unveil some of the very important aspects of the normal aging process.

Disclaimer: The information provided in this story is solely for educating the reader. It is not intended to be a substitute for the advice of a medical expert.