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Physical Therapy Clinic in New York City

Mike Earl
Physical Therapy Clinic in New York City

Ehlers-Danlos Syndrome 

Ehlers-Danlos syndrome (EDS) is a group of rare genetic disorders that cause problems with the way your skin, joints, and blood vessels work. The condition affects about 1 in every 5,000 people worldwide. There are different types of EDS, each with its own set of symptoms and causes.

Hypermobile EDS, also known as hEDS, is the most common form of EDS. It accounts for about 90 percent of all cases and is thought to affect around 1 in every 3,100-5,000 people.

There are 13 named subtypes of EDS, with each type having its own specific features.

Each type of EDS is inherited in an autosomal dominant way, meaning that a child can only inherit the disorder if one or both parents have it. It is also possible for EDS to develop without a family history of the disease. This is called a de novo mutation, and it can be passed down to the next generation of children with the same genetic defect.

It is not uncommon for people with hEDS to have other medical problems, like fibromyalgia or chronic pain. These can be managed with a combination of physical therapy, medication, and lifestyle changes, but it is important to see a GP or consultant who can provide a holistic approach.

Your GP or consultant may ask about your symptoms and check whether there are any other conditions that could be causing them. You might also be asked to have a special test called electromyography or electroencephalogram. These tests can help to diagnose some of the more severe forms of EDS, such as vascular EDS.

You may be referred to a specialist for further tests and assessment, such as an imaging scan or an MRI. These will look at your bones and muscles, as well as your joints, to check that they are functioning properly. They will also check if any of your blood vessels are damaged.

A rheumatologist, who is a doctor specializing in conditions that affect the joints and muscles, can assess your symptoms and refer you for further investigation. They will be able to recommend treatments and give you a diagnosis.

They will be able to help you manage your symptoms, including controlling any pain and improving your quality of life. They will also be able to refer you for physical therapy and occupational therapy, which can help you with your daily activities and reduce your risk of injury.

The rheumatologist may ask for details of any other medical conditions you have, to help with your diagnosis. These could include a functional gastrointestinal disorder, an autoimmune disorder, or a headache disorder.

Your rheumatologist might also want to know if you are pregnant, as some of the conditions in Ehlers-Danlos Syndrome can be very serious for unborn babies. For example, vascular EDS can damage the aorta or other blood vessels and cause heart failure or death.

Some of the conditions in EDS can affect your mood and cause you to feel low. These can be treated with antidepressants and other drugs that improve mood and increase energy levels.

What is Ehlers-Danlos Syndrome?

Ehlers-Danlos syndrome is a hereditary disorder that affects the connective tissue in the skin, joints, and blood vessels. It is caused by a faulty gene that leads to a defect in collagen, proteins that add strength and flexibility to the connective tissue in your body.

The disorder can be passed from one parent to a child in either a dominant or recessive genetic inheritance pattern. Both types of the syndrome are caused by a defect in the collagen gene.

Most people with Ehlers-Danlos syndrome have very flexible and stretchy skin that can bruise easily. Some types of conditions cause abnormal scarring, as well.

Many types of Ehlers-Danlos syndrome can cause easy bleeding or rupture (perforation) of a blood vessel or organ, such as the heart or large intestines. These complications can be fatal if not treated immediately.

Mike Earl
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