Are you clumsy? Do you find it hard to put your clothes away? Perhaps you get those bad ass bruises from aerial or gymnastic? Well you may have a clinical excuse to never fold your clothes away again… Thanks Mum.
If you have been in one of my classes you would have heard me go on about how it is harder for someone who is really flexible to get strong vs inflexible and strong. Well let’s talk about the science behind my ramblings, of hypermoblility spectrum disorders.
What are Hypermobility Spectrum Disorders?
There is a wide spectrum of mobility, lack of mobility and hypermobility that can be present in the body. From stiff sore bodies, to bendy bodies that should not bend in they way they are. :S. As for labeling where you are in the hypermobility spectrum the first port of call would be generalised joint hypermobility (GJH). GJH can be induced from training or naturally inherited. On the extreme end of the scale hypermobile, joints, skin and tissues are present genetic disorders such as Ehlers Danlos Syndrome.
Why Does Hypermoblity Scoring Matter?
While some people are just bendy, some are bendy all the way through presenting with extremely elastic and soft tissues in the entire body. From the skin to veins and teeny tiny unravelling collagen proteins resulting from your DNA coding.
Hypermobility scoring matters because there may be underlying conditions that can lead to major complications that can be fatal.
Coined a “Bleeder”
Resistance to Anesthesia
Postural Orthostatic Tachycardia Syndrome (POTS)
Increased Bone Fragility
Prevention & Preparation
While it is not necessary for everyone to have a preparation plan, for the small percentage of persons with GJH it could be a matter of life or death. For instance:
Cardiovascular Ehlers Danlos Syndrome: Can present with weak vein and artery walls, organs can hollow out and rupture. People with cEDS need to prepare to know where the closest hospital is with a vascular surgeon. Routine operations will require a vascular surgeon, due to the increased risk of bleeding out. cEDS can also change the way your body metabolizes anasthetic, you will need to have higher doses. You don’t want to be like my mother who woke up in the middle of her surgery.
The Ever So Hypermobile Performing Arts Industry
Hypermobility is common in the performing arts such as contortion, ballet, and gymnastics, it’s our natural ability to be able to perform these arts with a greater range that increases our potential and draws us into mastery of the sport.
Increased Hypermobility = Increased Incidences of Musculoskeletal Injury.
Ronald Smith, a University of Washington psychology professor said: “the injury rate for ballet dancers over an eight-month period was 61 percent. This is comparable to rates found in other studies for athletes in collision sports such as football and wrestling.”
Could this be attributed to hypermobility? Perhaps, my personal opinion is that professional dancers operate on overtraining syndrome. (Another topic for next time.)
Several studies in the performing arts field indicate that lack of strength and cardiovascular endurance are two of the major factors in high level injury rates.
Generalized Joint Laxity – GJH
Hypermobility is joint laxity. Joint laxity is how loose or the degree of the increased mobility of the joints.
Generalized joint laxity (GJL) is a condition in which joint range of motion is greater than normal. Joint laxity may be related to diseases of abnormal collagen laxity, such as Marfan and Ehlers-Danlos syndromes. Degree of joint laxity is characterized with either the Beighton score, which measures joint hyperextensibility, or the Brighton score, which includes skin abnormalities and joint mobility.
A Clinical Diagnosis For Hypermobility.
1. Beighton Hyperextensibility Test
The Beighton Scoring System measures joint hypermobility on a 9-point scale.
Use the graph below to see how many points you score! In order to be classified as hypermobile you need to score: ≥6 pre-pubertal children and adolescents, ≥5 pubertal men and woman to age 50 and ≥4 men and women over the age of 50.
2. 5 Point Hypermobility Test
If you score two points or higher in the 5-point questionnaire you are hypermobile. If you are hypermobile you will want to check to see if you also meet the Brighton criteria.
- Can you now (or could you ever) place your hands flat on the floor without bending your knees?
- Can you now (or could you ever) bend your thumb to touch your forearm?
- As a child did you amuse your friends by contorting your body into strange shapes or could you do the splits?
- As a child or teenager did your shoulder or kneecap dislocate on more than one occasion?
- Do you consider yourself double-jointed?
The Brighton Diagnostic Criteria for Ehlers-Danlos syndrome (EDS)
What is Ehlers-Danlos syndromes (EDS)
The Ehlers-Danlos syndromes (EDS) are a group of hereditary disorders of connective tissue that are varied in the ways they affect the body and in their genetic causes. The underlying concern is the abnormal structure or function of collagen and certain allied connective tissue proteins.
They are generally characterized by joint hypermobility (joints that move further than normal range), joint instability (subluxation [partial separation of the articulating surfaces of a joint]) and dislocations (full separation of the surfaces of a joint), scoliosis, and other joint deformities, skin hyperextensibility (skin that can be stretched further than normal) and abnormal scarring, and other structural weakness such as hernias and organ prolapse through the pelvic floor. In the rarer types of EDS, there is also weakness of specific tissues that can lead, for example, to major gum and dental disease, eye disease, cardiac valve and aortic root disorders, and life-threatening abdominal organ, uterine, or blood vessel rupture.
The Ehlers-Danlos syndromes are currently classified into thirteen types. In all but the hypermobile subtype (hEDS) genetics variants have been identified as the cause for the disorder and are part of the diagnostic criteria. Since the publication of the 2017 criteria for EDS a couple of other genes have been identified describing additional new types. In particular, these include AEBP1-related EDS, and a COL1A1/A2 gene variant causing overlap between EDS and Osteogenesis Imperfecta.
Each EDS type has a set of clinical criteria that help guide diagnosis; a patient’s physical signs and symptoms can be matched up to the major and minor criteria to identify the type that is the most complete fit. That said, there can be substantial overlap between the EDS types.
EDS Scoring Criteria
For a positive result the following criteria must be met.
– Two major criteria
– One major and two minor criteria
– Four minor criteria
– Two minor criteria and a first-degree relative (parent/child/sibling) who has been diagnosed with EDS-HT.
– Beighton score ≥ 4 (if there has been an injury or surgery affecting range of movement, this can be considered historically)
– Arthralgia (joint pain) in ≥ 4 joints for ≥ 3 months.
- Beighton scores 1-3 (or 0-3 if over 50 years)
- Arthralgia in 1-3 joints for ≥ three months
- Back pain, spondylosis (spinal arthritis) or spondylolisthesis (spinal subluxation) for ≥ three months
- Dislocating/Subluxation (partial dislocation) > one joint, or the same joint more than once.
- ≥ three soft tissue injuries, tenosynovitis (inflammation of sheath around tendons) or bursitis (inflammation of the fluid-filled sac in a joint)
- Marfanoid Habitus; a characteristic appearance including being tall and slim and having long, thin fingers.
- Thin, stretchy skin or abnormal scarring (cigarette paper scarring or easily scarring)
- Droopy eyelids, short-sightedness, double vision.
- Varicose Veins (particularly at a young age)
- Rectal or uterine prolapse
Hypermobile EDS hEDS
The clinical diagnosis of hypermobile EDS needs the simultaneous presence of all criteria, 1 and 2 and 3.
Positive 5 point questionnaire or a positive Beighton score.
Criteria 2 A
Five must be present
- Unusually soft or velvety skin
- Mild skin hyperextensibility
- Unexplained striae distensae or rubae at the back, groins, thighs, breasts and/or abdomen in adolescents, men or pre-pubertal women without a history of significant gain or loss of body fat or weight
- Bilateral piezogenic papules of the heel
- Recurrent or multiple abdominal hernia(s)
- Atrophic scarring involving at least two sites and without the formation of truly papyraceous and/or hemosideric scars as seen in classical EDS
- Pelvic floor, rectal, and/or uterine prolapse in children, men or nulliparous women without a history of morbid obesity or other known predisposing medical condition
- Dental crowding and high or narrow palate
- Arachnodactyly, as defined in one or more of the following:(i) positive wrist sign (Walker sign) on both sides, (ii) positive thumb sign (Steinberg sign) on both sides
- Arm span-to-height ratio ≥1.05
- Mitral valve prolapse (MVP) mild or greater based on strict echocardiographic criteria
- Aortic root dilatation with Z-score >+2
Positive family history; one or more first-degree relatives independently meeting the current criteria for hEDS
Must have one of the following:
- Musculoskeletal pain in two or more limbs, recurring daily for at least 3 months ̈
- Chronic, widespread pain for ≥3 months
- Recurrent joint dislocations or frank joint instability, in the absence of trauma
Differential Diagnosis: All Of The Below Criteria Must Be Met
- Absence of unusual skin fragility, which should prompt consideration of other types of EDS
- Exclusion of other heritable and acquired connective tissue disorders, including autoimmune rheumatologic conditions. In patients with an acquired CTD (e.g. Lupus, Rheumatoid Arthritis, etc.), additional diagnosis of hEDS requires meeting both Features A and B of Criterion 2. Feature C of Criterion 2 (chronic pain and/or instability) cannot be counted toward a diagnosis of hEDS in this situation.
- Exclusion of alternative diagnoses that may also include joint hypermobility by means of hypotonia and/or connective tissue laxity. Alternative diagnoses and diagnostic categories include, but are not limited to, neuromuscular disorders (e.g. Bethlem myopathy), other hereditary disorders of the connective tissue (e.g. other types of EDS, Loeys-Dietz syndrome, Marfan syndrome), and skeletal dysplasias (e.g. osteogenesis imperfecta). Exclusion of these considerations may be based upon history, physical examination, and/or molecular genetic testing, as indicated.
13 Types of Ehlers Danlos Syndrome
Close but not quite close enough for the criteria? There are 13 types of EDS that have a general overlap symptoms but with very different distinguishing features. To find out about the criteria for all 13 types you can visit the EDS Society.
Training Considerations for Hypermobility
Joint stabilization is According to National Strength and Conditioning Association (NSCA) and American College of Sports Medicine (ACSM), cardiovascular, musculoskeletal, sensory motor training should be included in your training regime.
Major areas of concern are:
1. Knee joint pain and the elasticity of the patellar, and Achilles tendon.
2. Greatest pain was reported in the knee joint bilaterally, followed by dominant hip joint, then the shoulder joint bilaterally.
Training Adaptations To Avoid
Passive static stretching.
Static stretching for longer than 15 seconds.
Training Focal Points
- Balance Training.
- Balance and functional movement training.
- Training in front of the mirror to increase motor learning theory.
- Abdominal strength training.
- Gluteus maximus strength and hypertrophy training.
- Strength, power and endurance training for muscles supporting joint structures.
- Retraining the knee from a hyperextended position to a straight position.
Our Saturday alignment class focuses on mechanical feedback and proprioception training. It is a must for hypermobile students and new students to ensure they have correct technique. You can find out more about our class here.
Raoul H.H. Engelbert, Birgit Juul-Kristensen, Verity Pacey, Inge de Wandele, Sandy Smeenk, Nicoleta Woinarosky, Stephanie Sabo, Mark C. Scheper, Leslie Russek, Jane V. Simmonds, (2017). The evidence-based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome. American Journal of Medical Genetics. https://doi.org/10.1002/ajmg.c.31545
Wolf, J.M., Cameron, K.L. and Owens, B.D. (2011) ‘Impact of joint laxity and hypermobility on the musculoskeletal system’, Journal of the American Academy of Orthopaedic Surgeons, 19(8), 463+, available: https://link.gale.com/apps/doc/A264174547/HRCA?u=ntu&sid=bookmark-HRCA&xid=79d6354c [accessed 10 May 2022].