HYPERMOBILITY
SYNDROME
http://www.cafamily.org.uk/Direct/h56.html
The term hypermobility means 'more movement' and
describes the over flexibility of the joints.
Hypermobility syndrome (HMS) is an inherited
condition in which the protein, collagen, which
makes up the supporting tissues of the joint is more
flexible than usual. This makes the joints more
mobile, sometimes unstable, thus more prone to
injury. The degree of difference and hence tendency
towards painful symptoms, varies from individual to
individual, even in the same family. Some children
may have more severe problems that may lead to
dislocations.
The Hypermobility syndrome is a composite term
bringing together all the various difficulties that
may arise in people with hypermobile or lax joints.
Some people with HMS have little or no trouble. In
others pain can be a recurring, or in some, even a
constant problem. Connective tissue protein such as
collagen gives the body its intrinsic toughness. A
person's joints are lax because they have inherited
looser and more brittle connective tissue,
particularly their ligaments, tendons, joints and
muscles. This renders them prone to the effects of
injury and over use resulting in acute (short-term)
pain on prolonged and unaccustomed exercise. More
chronic day in day out pain is also common and may
require a variety of measures, which can vary from
one person to another in order to control it.
It is probably more correct to refer to the
Hypermobility syndromes (in the plural) as a family
of genetically based conditions which differ not
only in the particular protein affected, but also in
the degree of difference of formation. At one end of
the spectrum are the diseases with potentially
serious complications such as
Marfan syndrome
or
Ehlers-Danlos
syndrome Vascular Type (formally EDS IV).
At the other end, are what is now called, on good
evidence, the Benign Joint Hypermobility syndrome
(BJHS or HMS,) and Ehlers-Danlos Hypermobile Type
(formerly EDS Ill), which may be one and the same.
These may cause troublesome and persistent problems
but do not affect the vital organs and thus do not
pose a serious threat to life. Because joints do not
look arthritic, the problem is often overlooked by
health professionals.
About 7-10 per cent of the population of school age
children has been found to have loose joints and
occasional pain in the joints and muscles,
especially after exercise or at night. For the
majority, the symptoms will not decrease as they
grow older, despite the fact that their supporting
muscles and ligaments get tighter. Others may need
to have physiotherapy to help strengthen specific
muscles that stabilise joints.
Most children with HMS complain of joint pains in
the evening or sometime after exercise. These mostly
occur in the knees, ankles or non specifically in
the legs. Sometimes the joints may appear to be
swollen. Children with HMS often wake up in the
night complaining of pain in the legs, this symptom
may be familiar as 'growing pains.' The more severe
pain may be treated with paracetamol under doctor's
advice. Swelling should be treated as with any
injury: RICE rest, ice, compression, and elevation.
Young children generally do not like ice, but it can
be used with older children. If the joint pain
persists, a doctor should be consulted. It is
important that children continue to exercise and do
sport to build up their strength and muscles.
Inheritance
patterns
As in most of the Heritable Disorders of
Connective Tissue the pattern of inheritance for the
Benign Joint Hypermobility syndrome is autosomal
dominant. This means that 50 per cent of the
offspring may carry the gene for the condition. In
the BJHS this does not imply that they will inherit
any particular set of symptoms, since many affected
people have no ill effects at all. It used to be
thought that Hypermobility simply represented the
upper end of the normal distribution of joint
laxity. This view has been challenged as increasing
evidence emerges to suggest that it is also a
genetic connective tissue disorder, (albeit a
relatively mild one) in its own right.
Prenatal
diagnosis
If a genetic form of Hypermobility is known to
affect members of a family, referral for genetic
advice or counselling should be sought.
HOW IS HYPERMOBILITY MEASURED?
Variations between one person
and another make it difficult to measure
hypermobility. The most popular system is the
'Carter and Wilkinson' score, (see figure below and
the scoring chart). Give yourself one point for each
of the five simple tests you can do. Do the tests on
the arm and leg on both sides of your body, so the
maximum score is nine. An average person might score
1 or even 2 of these. But only about 1 or 2 in a
hundred healthy people score 5/9 or more. If you
scored 5/9 or more, you have 'joint hypermobility'
But still not necessarily the syndrome. es:
MAXIMUM SCORE IS 9 OUT OF 9.
