What can you do to help Marfan syndrome?

What can you do to help Marfan syndrome?

While there is no cure for Marfan syndrome, treatment focuses on preventing the various complications of the disease. To accomplish this, you’ll need to be checked regularly for signs that the damage caused by the disease is progressing. In the past, people who had Marfan syndrome often died young.

How is the family of someone with Marfan syndrome affected?

In about 3 out of 4 cases, the gene is inherited from a parent who is affected. Each child of an affected parent has a 1 in 2 chance of having the disorder (autosomal dominant inheritance). In about 1 out of 4 cases, the abnormal gene is from a new mutation. It is not inherited from a parent.

What kind of medical assistance will the affected child need for Marfan syndrome?

Bone and joint problems are treated by a doctor with special training (orthopedist or orthopedic surgeon). Treatment may include braces, therapy, or surgery. Eye problems are treated by an eye specialist (ophthalmologist). Treatment may include medicine or surgery.

Are there any celebrities with Marfan syndrome?

Abraham Lincoln is the most famous American who had Marfan syndrome. So did Julius Caesar and Tutankhamen. In more recent times, Olympic swimmer Michael Phelps, basketball prospect Isaiah Austin and, perhaps, al-Qaeda leader Osama bin Laden had Marfan syndrome.

What can you not eat with Marfan syndrome?

People with Marfan syndrome are recommended to have a balanced, nutritious, healthy diet, with restrictions on salt, cholesterol and animal fats. Vitamin, mineral and dietary supplements and protein derivatives have shown no real benefit, so are not specially recommended.

What should I monitor my child with Marfan syndrome?

Diagnosing Marfan Syndrome Your child will need an echocardiogram to look for signs of Marfan affecting their heart. The doctor will look for mitral valve prolapse (valve is “floppy” and does not close right) and aortic dilation (aorta is bigger than normal).

What to do if you suspect you have Marfan syndrome?

If you suspect that you or a family member may have Marfan syndrome or a related condition, we recommend that you: Find a doctor who is knowledgeable about genetic conditions. Compile a health history. Reach out for information and support.

How is Marfan syndrome passed from parent to offspring?

The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy. The risk is the same for males and females. The children of an individual with Marfan syndrome caused by a new mutation have a 50% chance of inheriting this gene change and hence Marfan syndrome from their affected parent.

How is Loeys Dietz syndrome related to Marfan syndrome?

A disorder that includes many features of Marfan syndrome (MFS) called Loeys-Dietz syndrome (LDS) can be caused by mutations in at least 5 different genes that influence the activity of TGF-β (TGFBR1, TGFBR2, SMAD3, TGFB2, and TGFB3).

Can a person with Marfan syndrome lack muscle tone?

They can lack muscle tone (hypotonia) and have little fat under the skin (subcutaneous fat).

How does the Marfan Foundation help people with Marfan syndrome?

The Marfan Foundation. Through the following programs in research, patient support, and education, The Marfan Foundation creates a brighter future for everyone affected by Marfan syndrome and related disorders: The Marfan Foundation’s Research Program was launched in 1989 with a $3,000 research grant award.

Is the risk of Marfan syndrome the same for males and females?

The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy. The risk is the same for males and females. Marfan syndrome has been linked to defects or disruptions (mutations) of the fibrillin-1 ( FBN1) gene. Not everyone who has a mutation of this gene develops the symptoms of Marfan syndrome.

How often do people die from Marfan syndrome?

Marfan syndrome affects an estimated 1 in 5,000 people regardless of race, ethnicity, or gender. Our community of experts estimates that nearly half the people who have Marfan syndrome, don’t know it. Without proper diagnosis and treatment, they are at high risk for an aortic dissection and sudden death.

What do people with Marfan syndrome look like?

People with Marfan syndrome tend to have excessively long bones and are commonly thin, with long, “spider-like” fingers. They may also have other skeletal malformations that require the attention of an orthopaedic specialist.