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What is the Marfan syndrome?
Read about
Ha-Joint-Formula presented in simple easy to understand language |
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The Marfan syndrome is a connective tissue disorder
that is characterized by unusually long limbs. It is caused by a defect in the
gene that enables your body to produce fibrillin. Fibrillin is a glycoprotein
which gives connective tissue its elasticity and strength. Without the
structural support provided by fibrillin, connective tissues are weakened,
leading to severe consequences on support and stability. The disorder is named
for Antoine Marfan, a French pediatrician who first described it in 1896.
Marfan syndrome is an autosomal dominant condition which means that a defective
gene from only one parent can pass the disease on. It also means that each child
of an affected parent has a 50-50 chance of inheriting the defective gene. While
some people experience only mild effects, others have severe problems and the
disease worsens with age.
The most common Symptoms include the following
Physical appearance: People with
Marfan syndrome are often tall and slender, with spidery fingers and toes, and
disproportionately long legs and arms. They also tend to have:
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Loose, excessively flexible joints
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Curvature of the spine A breastbone that protrudes
outward
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A narrow face
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A high, arched palate and crowded teeth
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Flat feet
Cardiovascular system
The most serious conditions associated with Marfan syndrome involve the
cardiovascular system and include:
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Aortic aneurysm
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Aortic dissection
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Mitral valve prolapse
Eyes
Another region that is affected by the syndrome is the eyes:
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Skeleton:
People with Marfan syndrome are prone to a number of skeletal problems
such as:
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Scoliosis
Scoliosis is a condition in which the bones of the spine twist into an
S or C shape. This condition affects half of the patients with Marfan
syndrome and could eventually lead to bone loss, chronic back pain,
and inflammation and arthritis of the spine.
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Spondylolisthesis This occurs when one vertebra
slips forward over another often near the end of your spine. While
anyone can develop spondylolisthesis it is a more common occurrence in
Marfan syndrome.
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Foot pain
People with Marfan syndrome often have long, slender feet with arches
that are flatter than normal which may lead to chronic foot pain.
Treatment
There is no cure for Marfan syndrome, but effective treatment allows
many people with the disorder to live normally. The treatment often
focuses on preventing the various complications of the disease.
• Cardiovascular problems are usually treated with medications and
surgery.
• For Skeletal problems, a back brace to stop spinal curvature or
surgery in severe cases may be recommended.
• For Eye problems, glasses or contact lens, eye drops, oral
medications and surgery may help control the symptoms.
• Regular exercise helps to control blood pressure and improve muscle
tone which in turn can help prevent some of the complications of
Marfan syndrome. |
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