Medical Training for Health

Archive for 2011

Friedreich’s ataxia is an inherited (genetic) that cause the deterioration of certain nerve cells over time.

In many cases, this condition also affects the heart and certain bones, and cells in the pancreas that produce insulin. The disease usually manifests as difficulty walking. People with Friedreich’s ataxia and awkward show unstable movements in the legs (called gait ataxia) during childhood or early adolescence. Read the rest of this entry »

Prevention

There is no way to prevent Marfan syndrome. Patients and families with Marfan syndrome might resort to genetic counseling to determine the risks of transmitting the disorder to their children.

When To Call a Professional

Call your doctor whenever you have problems with their sight. In many patients with Marfan syndrome, the eye doctor (ophthalmologist) is the first to suspect Marfan syndrome, based on the outcome of your eye exam. Read the rest of this entry »

No medical treatment exists to stop the fibrillin abnormality in people with Marfan syndrome. In the future, research strains of mice born with fibrillin problems may lead to successful treatment of Marfan syndrome.

Until then, doctors try to prevent or delay changes in the aorta of Marfan syndrome patients to prescribe medications that lower the pressure within the aorta. Your doctor may suggest taking a beta blocker and/or blocking angiotensin receptor called losartan (Cozaar).

Beta-blockers such as propranolol (Inderal), metoprolol (Lopressor) and atenolol (Tenormin) decrease the layer in the wall of the aorta by decreasing heart rate and reduce the force of heart contractions, especially during exercise. They are conducting studies to determine whether losartan, a drug approved by the Food and Drug Administration (FDA) prescribed for high blood pressure and heart failure might be more effective in preventing the expansion of the aorta. Read the rest of this entry »

Symptoms

Marfan syndrome affects each person differently and the presence and severity of symptoms can vary. Very often, people with Marfan syndrome learn of this condition when they find someone else in your family suffers from this problem or because of their physical appearance.

People with Marfan syndrome are tall and thin with long limbs, with or without other skeletal deformities. They usually appear vision problems, including difficulty seeing far and ectopia lentis. Symptoms such as chest pain and shortness of breath, can be very severe if there is an expansion of aortic aneurysm or heart valve lesions. Read the rest of this entry »

Marfan syndrome is a genetic disorder (inherited) that affects the body’s connective tissue. The connective tissue is the tissue elastic, fibrous and resistant connecting one body part to another. Is a major part of the tendons, ligaments, bones and the walls of large blood vessels. In Marfan syndrome, the body can not produce enough fibrillin, a key component of connective tissue.

The problem in the Marfan syndrome is caused by a mutation (change) in a gene. Genes are segments of DNA that the body to produce proteins. In many families with Marfan syndrome inherited the mutation affects the FBN1 gene on chromosome 15, although in some cases might be affected a second gene on chromosome 5. Read the rest of this entry »

When To Call a Professional

Call your health professional if you have symptoms of Raynaud’s phenomenon to learn about this disease and to ensure that does not suffer from other diseases. If you have been diagnosed with Raynaud’s phenomenon, see your doctor if you experience unusual symptoms such as redness, inflammation (swelling) or severe open sores. Seek medical attention if you develop color changes, numbness or tingling in your arms or legs that do not disappear within minutes after heating the affected area. Read the rest of this entry »

Most people with Raynaud’s does not need medical attention. The symptoms can be managed to avoid the events as much as possible the episode of vasospasm often be stopped by heating the affected areas when going outside or by placing the fingers or toes in a bowl with hot water.

The biofeedback, which trains the body to warm the extremities, may help some patients manage their symptoms. This mind-body method uses machines to help you learn how to increase voluntary control bodily processes that are typically involuntary, such as blood flow. Read the rest of this entry »

Although there is no way to prevent a person will develop this condition may reduce the number of episodes of vasospasm or even eliminated by avoiding situations that can trigger attacks.

To prevent vasospasm:

- Avoid unnecessary exposure to cold
at home, raise the thermostat a few degrees. Read the rest of this entry »

Symptoms

People with Raynaud’s phenomenon look and feel changes in fingers and toes when exposed to cold. The skin turns pale or white and then a bluish hue. You may also feel a tingling in the fingers or toes or numb. When recovering the temperature, the skin suddenly turns pink or reddish color and may have a throbbing sensation or pain as the blood comes back to run through tiny blood vessels.

People with Raynaud’s disease secondary to rheumatoid disease also have arthritis, rash, or a thickening or hardening of the skin. Read the rest of this entry »

When healthy people remain in a cold climate, tiny blood vessels in the skin constrict or narrow, in an effort to conserve heat. In people with Raynaud’s phenomenon (also called Raynaud’s disease or syndrome), the natural response to cold is extreme.

Tiny blood vessels go into spasm, narrowing and reducing blood flow to the affected areas. This response, called vasospasm, is seen more often in the fingers and toes, but can also occur in the ears, cheeks and nose.

In some people with this disorder, the contraction may also occur in response to emotional stress or rapid change in temperature from hot to cold. Read the rest of this entry »