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by carolinemh10
Last updated 8 years ago

Health & Fitness

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Detection of the Disorder:Progeria is usually detected in infancy or early childhood when a baby first shows the characteristic signs of premature aging.Doctors may suspect progeria when a child exhibits hair loss or failure to grow. A diagnosis can be confirmed with genetic test. They will test for LMNA mutations.

Biological Causes:Unlike many genetic mutations, this disease isn't passed down in families. Instead, the gene mutation is a chance occurrence that affects just a single sperm or egg shortly before conception. Progeria is caused by a de novo heterozygous mutation in the lamin A gene (LMNA; 150330) on chromosome 1q22.The lamin A protein is necessary for holding the nucleus of a cell together. The defective lamin A protein makes the nucleus unstable, which appears to cause the process of premature aging in progeria.The three main other progeroid syndromes are Wiedemann-Rautenstrauch syndrome, Hallermann-Streiff-François syndrome, and Werner syndrome. They cause different symptoms and, unlike Hutcinson-Gilford syndrome, they do run in families.

Treatment of the Disorder:There's no cure for this condition, but ongoing research shows some promise for treatment.Many children have regular monitoring for cardiovascular disease and some undergo coronary artery bypass surgery or dilation of cardiac arteries to slow the progression of cardiovascular disease.Therapies include a daily dose of low-dose aspirin to prevent heart attacks and stroke, medications to lower cholesterol, anticoagulant to help prevent blood clots, growth hormones, physical and occupational therapy to help with joint stiffness and hip problems, and extraction of primary teeth because their permanent teeth may start to come in before the others fall out. Drugs known as farnesyltransferase inhibitors (FTIs), which were originally developed for treating cancer, have shown promise in laboratory studies to correct the cell defects that cause progeria. FTIs are currently being studied in human clinical trials for treatment of progeria.Another experiment shows evidence suggesting that treatment with a drug known as n-acetylcysteine could slow the aging process associated with Hutchinson-Gilford syndrome.

Effect of the Disorder:It is a progressive genetic disorder that causes children to age rapidly.Affected children typically appear normal at birth, but by 12 months they begin to exhibit slow growth, hair loss, and below average height and weight. However, motor development and intelligence remain normal.Affected individuals rarely exceed the size of a normal 5-year-old, although they have the physical appearance of 60-year-old adults by age 10.Signs and symptoms of the disorder include: A narrowed face and beaked nose, scleroderma (hardening and tightening of skin), a head disproportionately large for the face, thin lips and skin, visible veins, prominent eyes and blood vessels in the scalp, a small lower jaw, delayed and abnormal tooth formation, hair loss (alopecia) including eyelashes and eyebrows, and diminished body fat and muscle; other symptoms that affect the body include stiff joints, hip dislocation, insulin resistance, irregular heartbeat, and a high-pitched voice. Sex organs remain small and underdeveloped.The average life expectancy for a child with progeria is about 13. Most children with progeria eventually die from heart problems or strokes because they usually develop severe hardening of the arteries. This causes problems related to atherosclerosis, which will lead to problems with the blood vessels that supply the heart and brain. Interestingly, other health problems that are frequently associated with aging,such as far-sightedness and Alzheimer's disease, do not develop as part of the course of progeria.It is very rare. It is alsmost never seen in more than one child per family. The global incidence is approximately one in every four to eight million births. Only 80 children in the world currently have the condition, including 18 in the United States.The allele responsible has remained in the population because it is a mutation.

Hutchinson-Gilford Progeria Syndrome


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