Hypermobile Ehlers-Danlos Syndrome and Hypermobile Spectrum Disorders
One of the most common questions that I get from my patients who are living with Ehlers Danlos or hypermobile spectrum syndromes is why did this happen? Why is it so hard to hold myself up and move?
From my perspective as an orthopedic specialist PT and my specialized trading in neuromotor control, it seems that the answer lies in the collagen. Collagen is the duct tape of the body; it holds our bones together (ligaments), attaches our muscles to bones (tendons) and is a significant portion of the skin. There are two main types of collagen in the musculoskeletal system: fibrin and elastin. They function exactly as they sound; fibrin helps with structural stability and elastin helps with flexibility and springiness in the tissues. With Ehlers Danlos syndrome, the genes that produce for the proteins that make up collagen are changed making the collagen extra stretchy (less structural stability)
I have the privilege of working with a cross section of humanity, mostly from the ages of 8-80 years old. In the physical therapy evaluations, together we wind back the clock to troubleshoot the current difficulties patients bring to me through questions about their history and the actual exam data. I have noticed that a seemingly key time period where difficulties in posture control and movement start to show up and begin to limit participation in daily life is around puberty (10-14 years old). The theory is that during puberty there is rapid bone growth, but it takes some time for the muscles to adapt to the new size of the skeleton and build up strength to stabilize the new size of the bones as well as the new increase in bodyweight through the limbs and the spine against gravity. This is also a time in life with heavy backpacks, small lockers, lots of sitting, personal devices like phones, laptops, and computers and with that brings slouching too. This seems to be when the brain starts to learn to use the extra elasticity in the tissues to help to stabilize with tension instead of having active lift through the muscles for stability against gravity. For someone who has extra elasticity in their connective tissues it is easier to compensate in this way than to stimulate the muscles to build strength to manage the new bodyweight and skeletal size against gravity. Then, as the skeletal system matures further into the teenage years and then solidifies as an adult around 21 years of age these patterns get stuck and the joints and tissues experience abnormal stress, loading, and strain, developing pain and further changes in movement and postures in a reaction to compensate. Movement is inefficient, physical activity and sustaining postures difficult and the lack of active muscular stability make the subluxations worse and more frequent. this causes some long vicious cycle until they eventually end up in my office for treatment. With physical therapy treatment, we work to restore and strengthen the active posture control system to allow for more comfortable daily life and physical activity.
The next most common question I often get is, why is it so difficult to get an official diagnosis?
Right now, there are genetic tests available to diagnose only the more severe forms of Ehlers Danlos Syndromes. They are often not covered by insurance and very expensive. Right now, there is not a good objective test to definitively diagnose Hypermobile Ehlers Danlos Syndrome (hEDS). There is a check list of descriptive criteria but in my clinical experience working with many who have Hypermobility spectrum disorders and hEDS, the subjective history matches someone who should exhibit Hypermobility, but the “objective” hypermobility in the Beighton Hypermobility tests can be masked by soft tissue compensations or arthritis from years of abnormal loading and compressive stress. Half the time, the true tissue Hypermobility is visible or palpable with actually stress testing the joints during the physical therapy exam or after correcting the dysfunctional movement patterns and the volume of the compensating muscles are turned way down and the weak core is allowed to come through in the motor programs. A blood test to more objectively diagnose individuals with hypermobile Ehlers Danlos syndrome is in the works, but until then, I recommend seeing a provider who has experience working with people with hEDS and hypermobility spectrum disorders as the descriptive criteria, while intending to be as objective as possible in the absence of an objective genetic or blood test, identifying hEDS as well as treating hEDS does has an element of nuance to it.
Here are some resources to get your started on your Hypermobility management journey:
The Ehlers Danlos Society Website. - Great place to learn all about Ehlers Danlos Syndrome. Remote and in person workshops are offered.
Find a provider tool on The Ehlers Danlos Society Website - a searchable database by geographic location. Providers with experience and interest in hEDS/Hypermobility spectrum disorders list themselves here.
The hypermobile Ehlers Danlos Syndrome Diagnostic Checklist.
Want to work with Kim but can’t make it to the office? Kim is pleased to offer her highly successful corrective exercise progression through the Patreon platform.
