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Doctor insights on: What Are The Manifestations Associated With Eds

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What are the manifestations associated with eds?

What are the manifestations associated with eds?

EDS: Excessive daytime sleepiness is exactly that. People typically will be tired during the day, fall asleep easily during activities that they should not falls asleep and may have a hard time staying awake while driving. It is also the diagnosis we typically use for patients so that they can qualify for a sleep study when we have concerns about sleep apnea. Sleep studies can be $2-4k tests. ...Read more

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How do you get eds?

How do you get eds?

Genetic!: You are born with it. It (several variants) are genetically acquired and in the patient's dna. It not acquired! treatments are symptomatic. There are no cures. ...Read more

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What are the types of eds?

What are the types of eds?

EDS types: There are 6 major types of eds, they are inherited disorders marked by loose joints, hyper elastic skin that bruises easily, easily enlarged blood vessels. They are called types 1 through 6. A variety of genetic mutations cause problems with collagen, the material that provides strength to soft tissue structures and bone. Collagen typing and gene mutation testing can determine the eds type. ...Read more

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What are the signs of eds?

What are the signs of eds?

Loose-jointedness: There are several variations of eds but they all have loose-jointedness as a primary symptoms. Increased elasticity of the skin may also be present. ...Read more

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What's transmission of eds?

What's transmission of eds?

Genetic: The only common form of eds is type iii. This is because afflicted individuals rarely reach childhood; and, certainly not adulthood. Eds iii is an autosomally dominant gene which means that 50% of children of the affected person will have the disease; or each child has a 50% risk of developing the disease. ...Read more

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What is inheritance and pentrance of eds?

What is inheritance and pentrance of eds?

Depends: Ehlers danlos is a family of disorders, which has 6 major and several minor types. Given the multiple genes involved, it can be inherited in both autosomal dominant and autosomal recessive patterns, and can even spring from a de novo mutation. Penetrance depends on the type of mutation, and can therefore not be reliably calculated without more information. ...Read more

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Are there any adults with eds who don't know it?

Are there any adults with eds who don't know it?

Yes: Generally, these are wonderful gymnasts, ballerinas and people who easily dislocate their joints to perform some pretty amazing feats, such as escaping from a strait jacket. However, the price is very high for those who use their flexibilty. They have to retire early from the severe form of premature osteoarthritis that they develop. ...Read more

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Does age increase the severity of eds symptoms/problems?

Does age increase the severity of eds symptoms/problems?

Yes: Ed becomes more common with increasing age. However, other factors play a role and are certainly more controllable. Not smoking, and controlling blood sugars and blood pressure will help symptoms of ed. Also, exercising will increase blood flow and decrease symptoms of ed. ...Read more

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How long can someone with eds live after symptoms begin?

How long can someone with eds live after symptoms begin?

It depends: There are several subsets of eds as well as a condition known as benign hyper mobility syndrome. Most individuals with eds have relatively mild disease and can expect a normal life span. ...Read more

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Why did our geneticist say it was not so bad to have eds?

Why did our geneticist say it was not so bad to have eds?

Tends to be "mild": Most cases and types of eds have fragile skin and joint dislocation as the worst consequenses. However the vascular type can be devestating with spontaneously rupturing blood vessels in multiple organs causing bleeding or bowel rupture. Eds can be confirmed by genetic testing and typed by skin biopsy. ...Read more

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I just got diagnosed with eds and wonder if my kids have it?

I just got diagnosed with eds and wonder if my kids have it?

Heck with gentic: Consular, because we have many type of this diseae. Ehlers-danlos syndromes are a genetically, biochemically, and clinically diverse group of heritable connective tissue disorders. ...Read more

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Can you explain why there are crossovers (overlaps) among the different types of eds?

Can you explain why there are crossovers (overlaps) among the different types of eds?

Complicated : There are a number of types of eds and they are slightly diiferent diseases based on their individual genetic abnormalities. ...Read more

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Can you explain why there are "crossovers" of characteristics among the different types of eds?

Collagen: Eds has many different types. In most of its forms, the defect involves some aspect of collagen. Collagen is one of the basic building blocks of connective tissue which is found in all organs, joints and blood vessels. Depending on the exact type of genetic defect, and becasue collagen is found everywhere, there is cross-over in the types of eds with similar manifestations. ...Read more

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I am pretty sure that I have EDS are there any tests or things I should do to go about getting a diagnosis?

I am pretty sure that I have EDS are there any tests or things I should do to go about getting a diagnosis?

Consult geneticist: Ehlers-Danlos Syndrome is a genetic disorder with hyper elastic connective tissue and can be inherited recessive or dominant. A thorough exam and history and gene analysis or skin biopsy can confirm diagnosis, as there are 13 different types, and other conditions like Marfan's have similar symptoms. See https://ehlers-danlos.com/what-is-eds/ for detailed information. ...Read more

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Difference between eds and marfans?

Difference between eds and marfans?

Complications: There are several forms of both. Ehlers-danlos syndrome is often associated with skin hypersensitivity and aortic dissection, dependent on type. Marfans is more associated with joint hyperextensibility, cataracts and sometime aortic dissection. ...Read more

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My husband has eds hypermobility can he get disabled?

My husband has eds hypermobility can he get disabled?

Not necessarily: Good teaching in joint protection will prevent disability. Fibromyalgia frequently accompanies people with hypermobility without apparent arthritis. I encourage your husband to take care of himself so that he does not become disabled. Living off of disability is a meager existence. ...Read more

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Are there any problem with hearing that occurs with eds?

Ehlers-Danlos?: I am assuming by "eds" you mean ehlers–danlos syndrome. If so, then no. There are no hearing problems that are associated with eds. Poor balance (which s an inner ear problem) is common. ...Read more

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Is it possible for people with eds type 4 (vascular) to live normal lives?

Is it possible for people with eds type 4 (vascular) to live normal lives?

Very difficult: True Ehler-Danlos type 4 is characterized by facial changes, translucent skin through which vessels can be seen , easy bruising, and uterine and cardiac problems related to medium and large artery damage. Each event is treatable to some degree, pregnancy is advised against, and some problems require emergency treatment. It is autosomal dominant. With good care one may live long but not normally. ...Read more

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Are there any base-line protocols for testing that are recommended for all types of eds?

Are there any base-line protocols for testing that are recommended for all types of eds?

Yes.: Both clinical exam and genetic testing needed.. A good pediatrician or geneticist are most likely to diagnose this, since presentation is early. I personally would see a geneticist if this diagnosis is in question. The hypermobility of joints leads to accelerated arthritis, ie. Osteoarthritis, and sprains. ...Read more

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