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Hypermobility Syndromes


The word hy·per·mo·bil·i·ty means an increase in the range of movement of which a bodily part and especially a joint is capable. In the cases of the Ehlers-Danlos Syndrome (Hypermobility type) the hypermobility is due to faulty connective tissue protein. The results are mainly felt in the "moving parts" of the body - the joints, muscles, tendons, and ligaments. These are too lax and more fragile than is the case for most people and the result is joint laxity with hypermobility and vulnerability to the effects of injury.

Only a minority of affected people develop symptoms and the Ehlers-Danlos Hypermobility Syndrome is a member of a family of related 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 hypermobility spectrum are the diseases with the potentially serious complications such as Marfan Syndrome or Ehlers-Danlos Syndrome Vascular Type (formally EDS IV). At the other is the syndrome as it occurs in this family the Ehlers-Danlos Hypermobile Type (formerly known as EDS III).

Hypermobile patients have more osteo-arthritis; increased nerve compression disorders; degeneration of cartilage,(especially in the knee); disorder of the mitral heart valves(which may produce chest pain, palpitations, fatigue, dizziness and shortness of breath); prolapse of organs and varicose veins. Patients who have a sedentary life style may have increased spinal pain.There are many other ways in which the syndrome may be expressed and details of these can be found in the pages of the specialist sites to which links are given on the main page

Children
Most children with hypermobility complain of joint pains in the evening or sometimes after exercise. These mostly occur in the knees and sometimes the joints may appear to be swollen. They often complain of pain in the legs and this symptom may be familiar as "growing pains".

Inheritance patterns
As in most of the Heritable Disorders of Connective Tissue the pattern of inheritance is autosomal dominant. This means that 50% of the offspring of an affected family member carry the gene for the condition irrespective of sex. However it does seem to be the case that females are more likely to develop symptoms.This does not mean that they will inherit any particular set of symptoms,since many affected people have no apparent ill effects. Among those affected the severity of symptoms may vary, not only between different famililies but also within a family. Thus a grand-mother may be diagnosed in her seventies because her symptoms were so mild that they went unremarked but her descendants may be affected severely enough to warrant investigation of older family members. It is for this reason that the condition is so hard to diagnose without a family history.