An introduction to EDS as well as instructions on how to score hypermobility using the Beighton Scale. Presented as part of the University Teaching Practicum requirements at York University in October, 2011.
2. Expected Outcomes
• Having a general understanding of what Ehlers-Danlos
Syndrome is and what the symptoms are.
• Distinguishing between the 3 most prominent types of
EDS.
• Understanding the heritability of EDS as a genetic disorder.
• Learning how to score a patient on the Beighton criteria to
determine the degree of hypermobility.
3. What is Ehlers-Danlos Syndrome?
• A group of inherited connective
tissue disorders.
• Defects in various genes that code
collagen synthesis.
• Collagen in connective tissue helps
the skin, muscles, ligaments, blood
vessels and visceral organs to resist
deformation.
• In EDS, collagen has increased
elasticity, which results in the
observed pathology.
• Severity of symptoms can range from
mild to life threatening.
a) Normal collagen fibrils
• It is often undiagnosed, or
b) Collagen fibrils in EDS (classical type)
misdiagnosed.
“The Joint Hypermobility Handbook”, Dr. Brad T. Tinkle (2010)
4. Symptoms - Hypermobility
Being able to move the joints beyond normal limits may result in chronic dislocations and
joint pain. Often patients need to invest in supportive braces to limit these injuries.
5. Symptoms – Stretchy Skin
Stretchy skin often results in poor wound healing, extensive bruising and is velvety
soft to touch.
6. Symptoms - Dysautonomia
Dysautonomia is the broad term to describe
malfunction of the autonomic nervous system.
7. Less Common Symptoms
• Low bone density
• Club foot
• Deformities of the spine,
• Chiari malformation (head & neck compression)
• Functional bowel disorders
• Dental issues
• Nerve compression disorders
• Vascular skin conditions -------------------
• Blue sclera
• Swan neck deformity of the fingers
• Insensitivity to local anaesthetics
• Premature births
• Inability of blood platelets to clump
• Weak muscle tone during infancy, delaying motor development
• Arterial/intestinal/uterine fragility or rupture
8. Types of Ehlers-Danlos Syndrome
• Classical (Types 1 & 2) involves
mostly skin related symptoms and
limited hypermobility. It affects about
1/20,000 – 50,000
• Hypermobility (Type 3) is
characterized by high hypermobility
of the joints. It affects approximately
1/10,000 – 15,000
• Vascular (Type 4) is characterized by
TW – Classic Type MV – Vascular Type the rupturing of blood vessels and
organs. It is the most severe form of
EDS. Patients of this type are usually
small in stature and may have fatal
health issues by age 40. It affects
about 1/100,000 – 200,000.
NO – Hypermobility Type
9. Autosomal Dominant Conditions
• The 3 most common types of EDS
follow the autosomal dominant
pattern of inheritance.
• There is a 50% chance of a person
with EDS having a child that also has
EDS.
• The child will be the same type as the
parent.
• They will have similar symptoms as
the affected parent, but the
symptoms may differ in degree of
severity.
10. The Beighton Score
• A popular screening technique for
hypermobility.
• Requires the performance of 9
maneuvers.
• A point is gained for each movement
that the subject can positively
perform.
• A minimum of 3 points to be
considered mildly hypermobile.
• A maximum of 9 points would
indicate extreme hypermobility.
• Is easy and quick to perform, even in
large populations.
• Movements 1-4 are performed on
both the right and left sides of the
body. Total = 9 possible points
“Hypermobility Syndrome”, Rosemary Keer & Rodney Grahame, (2003)
11. The Beighton Score
• The ability to passively extend the
elbow to ≥ 10˚.
• One point is gained for performing
this maneuver in each of the arms.
“Hypermobility Syndrome”, Rosemary Keer & Rodney Grahame, (2003)
12. The Beighton Score
• The ability to passively appose the
thumb to the volar aspect of the
forearm.
• One point is gained for performing
this maneuver in each of the hands.
“Hypermobility Syndrome”, Rosemary Keer & Rodney Grahame, (2003)
13. The Beighton Score
• The ability to passively flex the fifth
metacarpophalangeal joint to ≥ 90˚.
• One point is gained for performing
this maneuver in each of the hands.
“Hypermobility Syndrome”, Rosemary Keer & Rodney Grahame, (2003)
14. The Beighton Score
• The ability to passively hyperextend
the knee to ≥ 10˚.
• One point is gained for the ability to
perform this maneuver in each of the
legs.
“Hypermobility Syndrome”, Rosemary Keer & Rodney Grahame, (2003)
15. The Beighton Score
• The ability to actively place BOTH
hands AND feet flat on the floor,
WITHOUT bending the knees
“Hypermobility Syndrome”, Rosemary Keer & Rodney Grahame, (2003)
16. Summary
• EDS is an inheritable genetic disorder caused by mutation(s) in various
types of collagen.
• There is a wide range of symptoms that affect connective tissues
throughout the entire body.
• The 3 main types are classical, hypermobile and vascular.
• It is typically autosomal dominant.
• Hypermobility can be assessed using the Beighton Scale.
17. Are you Hypermobile?
• Perform each of the movements in the
Beighton Scale
• Total your points on the sheet provided
• A minimum score of 3 indicates mild
hypermobility.
• Additionally, please write one sentence
describing what you think is the most
important fact to know about EDS.
