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Doctor insights on: Eds Hereditary

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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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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 : Ehler danlos syndrome is a disorder of elastic fibers -----genetically based and many sub types have been identified. ...Read more

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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 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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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