Progeria


Progeria

Description, Causes and Risk Factors:

ICD-10: E34.8

Progeria is a rare disease, fatal genetic condition that produces rapid aging, beginning in childhood also known as Hutchinson-Gilford disease wherein symptoms resembling aspects of aging are manifested at an early age. Progeria was first described in an academic journal by Dr. Jonathan Hutchinson in 1886, and Dr. Hastings Gilford in 1897 - both in England.

Approximately 1 in 4000000 people are diagnosed with this condition. Those born with Progeria typically live about 13-20 years. It is a genetic condition that occurs as a new mutation and is not usually inherited, although there is a uniquely inheritable form. This is in contrast to another rare but similar premature aging syndrome, dyskeratosis congenita (DKC), which is inheritable and will often be expressed multiple times in a family line.

Most scientists and researchers have decided that random mutations cause Progeria syndrome. These mutations are either inherited through autosomal dominant traits or occur by complete random chance on chromosome 1. This chromosome has a gene called LMNA that codes for the lamin A and lamin C proteins. Usually, lamin A proteins provide support to the nuclear membrane. The mutation of the gene, found in Progeria patients is the replacement of a cytosine nucleotide with a thymine nucleotide at a specific position on the chromosome (position 1824, written as C1824T). The mutation, called G608G, causes production of abnormal prelamin A's, called progerins, that will be come lamin A proteins. These abnormal proteins are missing 50 amino acids on one end and cannot properly support the nuclei walls. This mutation, however, does not affect lamin C proteins. Scientists believe that this mutation and the unstable nuclear membranes produced, cause the premature aging associated with progeria. In elder humans, the nuclei of cells are also similarly misshapen. This connection leads to the understanding of the similar characteristics found in progeria patients and non-affected human elders.

There are, however, other progeroid syndromes that run in families. They include Wiedemann-Rautenstrauch syndrome and Werner syndrome. In Wiedemann-Rautenstrauch syndrome, also known as neonatal progeroid syndrome, onset of aging begins in the womb, and signs and symptoms are apparent at birth. Werner syndrome begins in adolescence or early adulthood. These inherited progeroid syndromes also cause rapid aging and shortened life span.

Learning your child has progeria can be emotionally devastating. Suddenly you know that your child is facing numerous, difficult challenges and a shortened life span. For you and your family, coping with the disorder involves a major commitment of physical, emotional and financial resources.

In dealing with a disorder such as progeria, support groups can be a valuable part of a wider network of social support that includes health care professionals, family and friends. In a support group, you will be with people who are facing challenges similar to the one that you are. Talking to group members can help you cope with your own feelings about your child's condition. If a group is not for you, talking to a therapist or clergy member may be beneficial.

Ask your doctor about self-help groups or therapists in your community. Your local health department, public library, telephone book and the Internet also may be good sources for finding a support group in your area. Because progeria is so rare, you may not be able to find a progeria-specific support group, but you may be able to find a group for parents of children with chronic illness.

Symptoms:

Progeria signs and symptoms include growth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, hip dislocation, generalized atherosclerosis, cardiovascular (heart) disease and stroke. The children have a remarkably similar appearance, despite different ethnic background.

During the first year, symptoms that become apparentare growth delay, hair loss and little hair growth,leathery and dry skin, large growth of skull, and lessmovement.

After the second year, shortened fingers, stiff andslightly bent knees, stunted collar bone growth,stiffness of joints, disappearance of body fat, declinedsenses, diabetes, and hip dislocation can occur ordevelop.

The distinctive facial features developed in progeria patients include a large skull, pinched/beaked nose,thin lips, and protruding ears.

Diagnosis:

Diagnosis is suspected according to signs and symptoms, such as skin changes, abnormal growth, and loss of hair. It can be confirmed through a genetic test. The health care professional will possibly suspect progeria if the signs and symptoms are there - aging skin, loss of hair, stiffness of joints, etc. This can then be confirmed through a genetic test.

The health care provider will perform a physical exam and order laboratory tests. This may show:

    Insulin-resistance.

  • Skin changes similar to that seen in scleroderma (the connective tissue becomes tough and hardened).

  • Cardiac stress testing may reveal signs of early atherosclerosis of blood vessels.

  • Genetic testing can detect changes in the gene that causes progeria.

Treatment:

Currently, there is no FDA-approved cure for progeria syndrome. A new drug, under clinical trials, is a farnesyltransferase inhibitor, or FTI. When tested on progeria cells in a laboratory, FTIs restored the “lobed” nuclei to their normal, rounded shape. Studies show that the progerin proteins, or proteins responsible for progeria, have “farnesyl groups” attached to them, that stop normal cell functions. FTIs effectively block this group, and appear to improve conditions in the affected cells. More clinical trials for FTIs will occur soon, promising hope for future progeria patients. While FTI's will not cure progeria, they will greatly improve the quality of life and physical condition of those children affected by it.

Physical and occupational therapy are used to maintain a certain range of motion, and to comfort the muscles and bones. Certain exercises are used and any changes in movement abilities are recorded. Participation in physical activity is important to help maintain a healthier heart and vascular system. Hydrotherapy can be used to soothe muscle aches, fluoride aids in dental health, and low-dose aspirin helps comfort any pain. Certain foods, including PediaSure, Ensure, and Boost, can all be used as nutritional supplements for those affected with progeria. Other vitamin supplements and immunizations are used to protect these children. All of these extra treatments can help make activities less painful and easier for children who have progeria.

NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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