Marfan Syndrome
Physical Therapy for Marfan Syndrome – Information, Exercises, and More
Living with Marfan syndrome can not only be uncomfortable and painful but inconvenient, too. It’s not always easy to complete tasks when your breastbone protrudes, your joints are overly flexible, and your arm length spans greater than your height.
Through physical therapy, finding a treatment plan to manage your Marfan syndrome symptoms is possible.
This guide will teach you everything you should know about Marfan syndrome, including its:
- Causes
- Symptoms
- Treatment options; and
- How physical therapy can help
Contents
What Is Marfan Syndrome?
Marfan syndrome is a disorder that affects your…
- Bones
- Muscles
- Ligaments
- Blood vessels; and
- Aorta
… by altering the chemical makeup of your body’s connective tissue.
About one in 5,000 suffer from the rare gene mutation that limits the body’s ability to make the proteins it needs to build connective tissue.
What Causes Marfan Syndrome?
Marfan syndrome is a hereditary disorder that, 25% of the time, develops for unknown reasons.
The known explanation: Marfan syndrome occurs when there is a mutation in a gene called FBN1 — the gene responsible for providing instructions for making fibrillin-1.
Fibrillin-1 is the protein that is transported out of cells into the extracellular matrix that forms the spaces between cells. Without the binding of fibrillin-1, microfibrils don’t properly form, preventing the skin, ligaments, and vessels from properly stretching.
Exams To Diagnose Marfan Syndrome
Because Marfan syndrome is hereditary, it can typically be diagnosed or made aware of through a:
- Physical exam
- Skeletal exam
- Review of family history; or
- Eye exam.
Many of the disorder’s symptoms are obvious, making the diagnosis quick and painless.
Testing To Diagnose Marfan Syndrome
If you know there’s a family history of Marfan syndrome, genetic testing can be done to see if you’re a carrier. Additionally, an echocardiogram can be used to check the aorta and heart valves.
Marfan Syndrome Symptoms
Symptoms of Marfan syndrome might be obvious — or they might not be. Not everyone exhibits every feature or visible symptom, so understanding all possible symptoms is important.
Visible Symptoms of Marfan Syndrome
Because Marfan syndrome is a gene mutation, those affected by the disorder have a great chance of displaying physical symptoms. However, sometimes physical symptoms of Marfan syndrome are not as apparent until adulthood as the body continues to grow.
Visible symptoms include:
- Unusually tall and thin
- Long extremities
- Overcrowded mouth
- A sunken or protruding chest
- Elongated face
- Very flexible
- Flat feet
- Unexplained stretch marks
Internal Symptoms of Marfan Syndrome
Not everyone exhibits physical, easy-to-spot, symptoms of Marfan syndrome. Some only suffer internally – the syndrome only presents with cardiovascular complications and weakened connective tissue.
A misshapen or weakened heart valve not only increases the risk of heart failure but could also lead to:
Other Symptoms and Complications of Marfan Syndrome
Marfan syndrome can have other symptoms and complications.
- Ectopia lentils, when the focusing lens within your eye moves out of place, occur in more than 50% of people with Marfan syndrome.
- Chances of detachment or tears in the retina increase in those with Marfan syndrome.
- Early-onset glaucoma or cataracts is more common.
- Scoliosis, abnormal development of the ribs, foot pain, and low back pain are more common.
- Pregnancies can be at higher risk as more blood pumps from the heart, increasing the chances of a deadly dissection or rupture.
Marfan Syndrome Treatment
Although there is no cure for Marfan syndrome, various treatments are available to help improve a patient’s quality of life and prognosis. Treatments will vary depending on which symptoms and complications you are experiencing.
For example, a patient with an aortic aneurysm should avoid high-intensity exercise, while patients with only physical alterations likely don’t have to. Each patient’s treatment plan will be highly individualized.
Necessary Examinations
Almost every patient with Marfan syndrome should be checked yearly to monitor symptoms, functions, and growth. You’ll likely work with a team of physicians including …
- Cardiologist
- Ophthalmologist; and
- Physical therapist
… as well as any other necessary professionals.
Together, this team will:
- Conduct annual echocardiograms to monitor the size and function of the heart and aorta
- Conduct an eye exam using a slit-lamp to detect lens dislocation with necessary follow-ups
- Monitor the skeletal system
- Administer and monitor medications like beta-blockers for blood pressure and stress on the aorta
- Prescribe any other necessary medications
- Recommend lifestyle adaptations
Surgery Options
Surgery is likely for a patient with Marfan syndrome, whether it be directly for a symptom or to fix a complication from the disorder.
Aorta surgery is aimed to prevent dissection or rupture and to treat valve problems. If aortic dissection occurs, it is deadly to nearly 40% of sufferers. Performing aorta surgery before an aortic dissection leads to better long-term life expectancy.
Physicians consider …
- The size of the aorta
- The expected normal size of the aorta
- Patient’s height, age, and gender; and
- Family history of aortic dissection
… before choosing to move forward with surgery.
Surgery to remove a dislocated lens is sometimes recommended but lens extracting comes with increased risks of complications during and after surgery. Surgery might be the only answer if the dislocated lens interferes with vision significantly enough to cause large astigmatism that cannot be corrected with lenses.
A spinal fusion might be needed to realign and fuse the curved vertebrae that are often present in those with Marfan syndrome. Nearly 60% of children with Marfan syndrome have scoliosis, but it can often be helped with bracing.
Marfan Syndrome Physical Therapy – Will PT Help?
Physical therapy for people with Marfan syndrome and other similar connective tissue disorders has proven to be successful in the past. Because physical therapists work to reduce all types of pains while increasing physical and functional abilities, Marfan syndrome and physical therapy easily go hand-in-hand.
Seeking a skilled physical therapist to help manage your Marfan syndrome symptoms is important, and our team at In Motion O.C. is trained to help. We’ve treated dozens of patients with connective tissue disorders and work with each patient individually to create a customized treatment plan that:
- Addresses your symptoms and goals
- Keeps your body strong and capable
- Prevents and/or reduces further pains and complications
- And much more
Best Marfan Syndrome Exercises
Physical therapists can offer a handful of tools and exercises for those with Marfan syndrome depending on which symptoms and complications a patient is experiencing. Often, it is recommended to avoid…
- Long-distance running
- Heavy weightlifting
- Gymnastics; and
- Hiking or climbing
… because of the strain these activities put on your heart and joints.
Aerobic Exercises for Marfan Syndrome
Physical therapists might recommend performing aerobic exercises (cardiovascular) that are lower intensity but can be performed for longer periods, like:
- Slow runs
- Swimming
- Cycling; or
- Walking
These exercises can help stimulate or strengthen the heart and lungs.
Anaerobic Exercises for Marfan Syndrome
If a physical therapist feels it is safe, anaerobic — muscle strengthening exercises — might be recommended. These higher-intensity exercises are quick but tough and require the body to work to come back down to its normal state post-exercise.
Some examples include moderate weight-lifting or short and quick sprints.
Dynamic Exercises for Marfan Syndrome
Dynamic exercises, also known as isokinetic or “moving” exercises, are great for Marfan syndrome patients because they require the muscles to contract through a full range of motion.
If a PT deems these exercises safe, they might recommend things like:
- Throwing a ball
- Walking; or
- Running
Static Exercises for Marfan Syndrome
Isometric exercises allow the muscles to contract without movement. These exercises generally place great strain on the heart, increasing blood pressure. Physical therapists will only recommend static exercises if they feel it is safe and necessary.
How In Motion O.C. Can Help With Marfan Syndrome
Living with Marfan syndrome isn’t fun.
You likely can’t participate in contact sports, you’re probably constantly visiting different physician’s offices, and you’re uncomfortable.
Although there is no cure for Marfan syndrome, our team of physical therapists at In Motion O.C. can help improve your quality of life by helping you manage your symptoms with safe and effective tools.
We’ve helped dozens of patients with connective tissue disorders and many other ailments and have the testimonials to prove it. Heck, there’s a reason we’ve been voted the #1 physical therapist in the country on Yelp.
Contact us at In Motion O.C. today to help manage your Marfan syndrome symptoms and improve your quality of life.
The content in this blog should not be used in place of direct medical advice/treatment and is solely for informational purposes.
