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Doctor insights on: Hypersomnolence In Eds

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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

Dr. Lois Freisleben-Cook
344 doctors shared insights

Ehlers Danlos Syndrome (Definition)

Ehlers-Danlos Syndrome is a medical condition characterized by hypermobile joints, very elastic or stretchy skin that bruises easily, and other abnormalities. It is caused by defects in collagen, an important structural protein that is responsible for the strength of many different types of tissue including skin, ...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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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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Why do some with clinical eds diagnoses test negative for veds, but have vascular events?

Why do some with clinical eds diagnoses test negative for veds, but have vascular events?

Older testing: If a comprehensive evaluation is done the people with vascular risk can be determined. The incidence of vascular complications reflects available testing about 15 years ago. With improved testing techniques unanticipated vascular complications are rare without additional risk factors to include smoking. ...Read more

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Can any doctors or people who've been treated for eds please tell me how to get diagnosis?

Can any doctors or people who've been treated for eds please tell me how to get diagnosis?

Clinical criteria: It is usually a clinical diagnosis made using a set of clinical criteria; however, there are some genetic tests that can look for some variants of eds. ...Read more