Marfan Syndrome (MFS) is a genetic disorder that affects the body’s connective tissue.
Connective tissue is essentially made up of 3 key building blocks: Collagen, Fibrillin and Elastin. Together they create a structure that is both elastic and strong. In MFS, there is not enough Fibrillin present which can affect the integrity of the connective tissue and also effects how Fibrillin interacts with another protein called Transforming Growth Factor-Beta.
Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes. Because connective tissue is found throughout the body, Marfan syndrome can affect many different parts of the body, as well. The lungs, skin and nervous system may also be affected. Marfan syndrome does not affect intelligence.
Spinal involvement occurs in approximately 75% of people with Marfan’s syndrome. The most common complication is scoliosis, reported as occurring in 50 – 60% of cases. The scoliosis usually develops by 9 years of age and can progress as the individual grows, frequently at a rate of 7 – 10° per year. Fastest progression occurs during the adolescent growth spurt.
The scoliosis is considered due to the weakening and increased laxity of the ligaments supporting the joints. Many curves do however become quite rigid.
Maintaining condition of the supportive spinal muscles is very important for joint support and having a therapist specifically qualified in the 3 dimensional aspects of scoliosis is essential to try to minimise the common asymmetries and endeavour to slow down the progression of the curve.
The second most common spinal variation is thoracic lordosis, which is where the upper back curves inwards, rather than being rounded outwards in the region between the shoulder blades. In Marfan’s, this presentation is believed to develop secondary to the loss of lordosis in the lower back, so postural work must address this region with as much detailed focus as higher up.
The Schroth method training encompasses spinal variations of all directions – scoliosis, lordosis and kyphosis. There are very definite exercise modifications required when working with a client with Marfan’s. It is important for a client with Marfan’s to only part-take in an exercise or rehabilitation program that is provided for by a health professional acutely aware of the Marfan syndrome.