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| DiseaseID |
HGD55 |
| Genetic
Disorder |
Progeria
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| Gene
Name |
lamin A/C |
| Description |
The term progeria narrowly refers to Hutchinson-Gilford Progeria syndrome, but the term is expanded to describe any of the so-called "accelerated aging diseases". The word progeria is derived from the Greek for "old age". Hutchinson-Gilford Progeria syndrome is an extremely rare genetic condition which causes physical changes that resemble greatly accelerated aging in sufferers. Progeria is of interest to scientists because the disease may reveal clues about the process of aging.
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| Symptoms |
Symptoms:-
The earliest symptoms include failure to thrive (FTT) and a localized scleroderma-like skin condition. As the child ages past infancy, additional conditions become apparent. Limited growth, alopecia, and a distinctive appearance with small face and jaw and pinched nose all are characteristic of progeria. Later the condition causes wrinkled skin, atherosclerosis and cardiovascular problems. Mental development is not affected. Individuals with the condition rarely live more than 16 years; the longest recorded life-span was 29 years. The development of symptoms is comparable to aging at a rate six to eight times faster than normal, although certain age-related conditions do not occur. Specifically, victims show no neurodegeneration or cancer predisposition. The people diagnosed with this disease usually have fragile bodies like those of elderly people
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| Causes |
In 2003, researchers announced the discovery of a single gene mutation responsible for Hutchison-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, Hutchison-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).
There are, however, other progeroid syndromes that run in families. They include Wiedemann-Rautenstrauch syndrome and Werner's 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. |
| Diagnosis |
No diagnostic test confirms progeria. Doctors typically make a diagnosis based on signs and symptoms, such as failure to grow and hair loss, that typically aren't fully evident until your child is nearly 2. However, with the discovery of the genetic mutation that causes progeria, it's possible to use genetic testing for LMNA mutations at the first suspicion of progeria. The sooner you know your child has progeria, the sooner your doctor can recommend treatments that may help ease the signs and symptoms of the disorder.
A blood test may reveal that your child has a low level of high-density lipoprotein (HDL) cholesterol, the so-called good cholesterol that helps keep arteries open. This laboratory finding isn't diagnostic by itself, but may lend support to a diagnosis of progeria.
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| Treatment |
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.
New drugs known as farnesyltransferase inhibitors (FTIs), which were developed for treating cancer, show promise in laboratory studies in correcting the cell defects that cause progeria. FTIs still need to be tested in clinical studies for treatment of progeria. |
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