Marfan Syndrome (MFS) is an autosomal dominant disorder secondary to mutation of Fibrillin-1 that affects the body's connective tissue. MFS primarily affects the cardiovascular, musculoskeletal, and ocular systems. Musculoskeletal manifestations include scoliosis, dural ectasia, protrusio acetabuli, ligament laxity contributing to joint instability and pain. Although musculoskeletal tissues are some of the most involved in Marfan syndrome, developments of effective treatments for these clinical problems have been rather slow to develop.The purpose of this case report was to describe a physical therapy exercise protocol for managing Low Back Pain in a Marfan syndrome patient.
Case Description
The patient was a 41 years old male with a medical diagnosis of Marfan syndrome, experiencing Low Back Pain for more than six months. The patient had a history of a mechanical valve implant and thoracic aorta replacement.
Outcomes
Following an intervention of four weeks of treatment the patient demonstrated improvement in all active range of motion, increased muscle strength for flexion, extension, and rotation to right and left with no complaints of pain. The results of the Owestry Disability scale was favorable to the patient demonstrating increased in function.
Discussion
Physical therapist often encounters different pathologies that affect the musculoskeletal system. As direct access practitioners we are obligated to further research the medical condition to be able to know the possible cause of the musculoskeletal issue that requires the physical therapy intervention. In this case the patient himself worked on his own willingness and able to work in sitting position without having pain.
Advances in medicine, technology, and pharmacology have significantly altered the disease management of Marfan syndrome. Likewise, there is growing interest in the use of exercise for individuals with chronic disease or disabilities. The primary goal of exercise programs is to optimize functional capacity regardless of the chronicity of the disease or course of the disease. Within any given population, there exists a wide range of exercise abilities determined by multiple factors such as progression of the disease, response to treatment, co-morbidities, and even mental outlook. Appropriate exercise programs in conjunction with sound medical management can yield improvements or at least prevent further deterioration. Exercise is often viewed as the most positive step in regaining some type of normal lifestyle. For those individuals, young or old, who have Marian syndrome, appropriate exercise should be a major component of their medical management. Exercise prescription is the cornerstone of any exercise program and includes: intensity, duration, frequency, type of exercise, and progression.
The safety of an exercise prescription for an individual is best monitored by heart rate, electrocardiogram, blood pressure and the rate of perceived exertion. The exercise prescription must be individualized for each patient with Marfan syndrome since the response to exercise will differ between patients depending on disease progression, medical management and hemodynamic alterations. Low level or heart rate limited graded exercise testing, as opposed to maximal testing, is best in this ...