Author Topic: Is there a genetic test for JHS  (Read 1019 times)

Ryan Ryder

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Is there a genetic test for JHS
« on: November 23, 2015, 01:57:37 AM »
Is there a genetic test for JHS / EDS-HM?

The Hypermobility Syndromes Association


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Is there a genetic test for JHS / EDS-HM?

The short answer is, No.

For the vast majority of individuals there is no genetic test to assist in making a diagnosis. The diagnosis is a clinical one. Even in some individuals and families considered to have the Classical or Vascular forms of EDS or Marfan Syndrome for example where there are genetic tests, the results of these tests may not be clear cut and can be difficult to interpret.

Geneticists are currently working on gene tests by looking at the genes of whole families (often 3-4 generations) of people with JHS / EDS-HM.

There have been studies showing that in a small portion of people with EDS-HM the low expression of a gene that controls the production of structural protein called Tenascin X has been found. However, this only seems to arise in less than 10% of families and currently this is not a routine or diagnostic test in use.

What is the inheritance of JHS / EDS-HM?

The Hypermobility Syndromes Association

First, we know that hypermobility in itself is strongly inherited. This is called a ‘dominant’ pattern of inheritance. However, the pattern of the hypermobility (the joints involved, and the degree to which they are hypermobile) is very variable in different members of the same family.

We also know from studying families that the more complex issues that lead to the diagnosis of JHS / EDS-HM have a dominant pattern of inheritance. However, like hypermobility, the patterns of presentation can be very different. The types of problems and the severity of these vary within the family. Indeed some family members may have minimal problems so mild that they do not seek medical advice as it is just not needed.

Why one person with hypermobility or one member of a family with hypermobility should develop a variety of complications and another person with hypermobility be absolutely well is simply not understood.

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