Classical-Like Ehlers-Danlos Syndrome

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2019-12-01
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Classical-like Ehlers-Danlos syndrome (EDS due to  tenascin-X (TNX) deficiency) is a form of Ehlers Danlos Syndrome (EDS) characterized by an unusually large range of joint movement (hypermobility), skin that is soft, stretchy, and fragile and easy bruising.  Other signs and symptoms might include: muscle weakness and wasting (atrophy), and protrusion of part of the stomach through the diaphragm in the chest cavity (hiatal hernia).

Classical-like EDS is caused by mutations in both copies of the TNXB gene and is inherited in an autosomal recessive manner; however, some individuals with a mutation in only one copy of the TNXB gene can have symptoms similar to EDS hypermobility type including joint hypermobility and soft skin. These individuals do not typically have easy bruising and stretchy skin.

Some individuals with classical-like EDS can have larger deletions of genetic material including other genes. These individuals may have additional symptoms. For example, sometimes deletions include both the TNXB gene and the CYP21A2 gene. Mutations within this gene are associated with one type of congenital adrenal hyperplasia (CAH), a group of genetic conditions that affect the glands that sit on top of the kidneys (adrenal glands).

There is no cure for classical-like EDSThe treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.