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World | By Tasha Manning

Ehlers-Danlos syndrome

Ehlers-Danlos syndrome

Written by April Kahn on June 25, 2012

Ehlers-Danlos syndrome (EDS) is an inherited disease that affects the connective tissues of the body. The connective tissue is responsible for the support and structure of the skin, blood vessels, bones and organs. It is composed of cells, fibrous material and a protein called collagen. Ehlers-Danlos syndrome is caused by a defect in the production of collagen. This disease is caused by a group of genetic disorders. There are six main types of Ehlers-Danlos syndrome:

  • artrocalasia classic
  • dermatosparaxis impaired area varies according to the type of SED. The area affected varies according to the type of SED.
  • Hypermobility However, they all have something in common: hypermobility. Hypermobility is an exceptionally large mobility range in the joints.

Types of classic Ehlers-Danlos syndrome and hypermobility are the most common. The other types are rare and it has been reported that dermatosparaxis affects only 12 children in the world. According to the Genetics Home Reference, SED is present in 1 in 5,000 people worldwide (Genetics Home Reference, 2006). Causes SED is an inherited disorder in which both parents transmit a defective gene to the baby.

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Mutations of these genes weaken the process and formation of collagen. Collagen is composed of molecules that provide structure to the connective tissues of the body.

Symptoms

Often parents are silent carriers of the defective gene that causes SED. This means that the parents may not show any indication of the condition and do not know that they are carriers of the defective gene. The symptoms of classic SED are as follows:

  • lax joints
  • velvety and extremely elastic skin
  • fragile skin Which easily rubs
  • redundant skin that folds over the eyes
  • muscle pain
  • muscle fatigue
  • benign formations in the areas of
  • Heart valve problems

Symptoms of hypermobility in SED are as follows:

Joints frequent bruising muscle pain muscle fatigue chronic degenerative joint disease osteoarthritis Chronic pain Heart valve problems

The symptoms of vascular SED are as follows: Li> fragile blood vessels

fine skin transparent skin Thin lips Collapsed lung Collapsed lungs Heart valve problems

Diagnosis

You will be given a blood sample from the arm to determine if there are mutations in certain genes. The DNA test can confirm if the gene is also present in the embryo. This type of test is done when the woman's eggs are fertilized outside the body (in-vitro fertilization).

Skin biopsy is used to detect signs of anomalies in the production of collagen. To do this, a small sample of skin is taken and analyzed under a microscope. Among the current options for treating SED are the following:

  • Physical therapy (used for Rehabilitate those with joint and bone instability)
  • surgery to repair damaged joints
  • pain relief drugs

Treatment options according to the intensity of the pain or additional symptoms.

Take the following steps to prevent injuries and protect your joints:

Avoid contact sports.

Avoid lifting weights. Provide adequate child protection before riding or when learning to walk. Use sunscreen to protect the skin. Avoid strong soaps that can dry the skin or cause allergic reactions. Use assistive devices to minimize joint pressure. Among the complications of SED are:
  • Chronic joint pain / Li>
  • Joint dislocation
  • Early onset arthritis
  • Slow healing of wounds, leading to prominent scars
  • Surgical incisions that heal with Difficulty

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