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In order to understand Ehlers-Danlos syndrome hypermobility type and Joint Hypermobility syndrome it is first helpful to understand where these conditions feature within the spectrum of disorders that can involve hypermobility. 

 

The conditions listed in box 1 (opposite) involve symptomatic hypermobility as part of a heritable disorder of connective tissue (HDCT) i.e. they are genetically passed from parent to child. Alterations in the genetic make-up of those affected by an HDCT may change the structure and development of all areas of the body made from the body’s connective tissue proteins, for example: skin, bones, joints, the heart, bowel, blood vessels, lungs, eyes, and ears. Some mutations also change how these tissues work. Many, but not all, HDCTs are rare.

 

Box 2 gives some examples of conditions that involve symptomatic hypermobility for reasons other than being a heritable disorders of connective tissue. For example, lupus and rheumatoid arthritis are autoimmune diseases, which may attack otherwise healthy connective tissue.  Symptomatic-hypermobility in lupus, or rheumatoid arthritis, is therefore classed as ‘acquired’ rather than inherited.  Conditions such as autism or Aspergers, or the chromosomal disorder Down’s syndrome, can involve hypotonia (low muscle tone), which in itself can lead to joint hypermobility.

 

Box 3 shows examples of other ways in which a person may acquire symptomatic hypermobility.

 

As you can see, although, for most people, hypermobility causes no problems at all, it can also be one of the first signs to alert us to the presence of one of the conditions listed below:  

 

A/ Examples of heritable disorders of connective tissue, that can involve hypermobility:

 

  • Ehlers-Danlos syndrome   (there are six main types of EDS)

  • Joint hypermobility syndrome   (now thought to be 'part of the same spectrum' as one of the EDS types)

  • Marfan syndrome

  • Osteogenesis imperfecta

  • Stickler syndrome

  • Pseudoxanthoma

 

B/ Examples of chromosomal, autoimmune, neurodevelopmental, or genetic mutation disorders that can involve or cause a person to 'acquire' hypermobility:

 

  • Down syndrome

  • Rheumatoid arthritis

  • Lupus

  • Polio

  • Autism

  • Asperger's syndrome

  • Cleidocranial dysostosis

  • Myotonia congenita.

 

C/ Examples of other ways a person may ‘acquire’ symptomatic hypermobility:

 

  • Injury - for example, dancers, gymnasts and sports people may over-stretch joints, muscles and ligaments when trying to create the lines and movements needed.

  •  

  • Overuse - e.g., massage therapists may acquire problems in their finger and thumb joints triggered by applying, repetitive pressure through their joints.

  •  

  • Malalignment - e.g., those with asymmetrical hip rotation, flat feet or unequal leg length may find that otherwise asymptomatic hypermobile joints become symptomatic over time (Oliver J.2005)

 

It is worth noting that, whereas some medical professionals reserve the term ‘Joint Hypermobility syndrome’ for those who are diagnosed as being affected by an HDCT, others will also use the term when giving a diagnosis for ‘acquired’ symptomatic-hypermobility. This is explained in the ‘Why are people so differently affected’ section, which can be found under the heading 'Further EDS-H/JHS Information on the menu bar).

 

 

 

NB/ The rest of this site will concentrate on the heritable connective tissue disorders called Ehlers-Danlos syndrome hypermobile type and Joint hypermobility syndrome. However, organisations such as the Hypermobility Syndromes Association can offer information, support and advice to all those affected by the hypermobility syndromes whatever the cause.

 

 by edhs.info

 

References:  For references and information sources used within this site, please see 'References', under 'Resources and Links' on the main menu.

Heritable / Aquired Symptomatic Hypermobility Explained

 

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