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Doctor insights on: Ehlers Danlos Chiari

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Loud grinding sound in base of scull (neck) when turning head. Strong occipital headache. Have Ehlers Danlos. Is it chiari malformation? Other cause?

Loud grinding sound in base of scull (neck) when turning head. Strong occipital headache. Have Ehlers Danlos. Is it chiari malformation? Other cause?

See your doctor: The grinding is generally a sign of digerati on in the facets, or neck joints. As an ED person, your ligaments which hold the bones in place are most likely lax, allowing excess movement. While, this could. Rear a chairing type malformation, I think arthritis is a more common answer. An X Ray will be telling ...Read more

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Are there treatment guidelines for ehlers-danlos syndrome?

Are there treatment guidelines for ehlers-danlos syndrome?

Treat symptoms: While there is no cure for this inherited disorder, it is worth determining which of the 6 types the affected person has. This may guide the needs for cardiac evaluation for valvular or vascular problems, eye exams for vision problem such as lens dislocation, or high-risk obstetric care. ...Read more

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What is the genotype for babies with ehlers-danlos syndrome?

What is the genotype for babies with ehlers-danlos syndrome?

See details: The same as in adults. I doubt that one can even begin to make the diagnosis in an infant unless there is a history of joint dislocations. ...Read more

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What treatments for ehlers-danlos syndrome can I try at home?

What treatments for ehlers-danlos syndrome can I try at home?

None: There are several kinds of eh, er danlos and there is no alternative treatment. Evaluation of type and extent is necessary to monitor possible internal involvement in certain cases such as heart valve abnormalities. ...Read more

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I have ehlers-danlos hypermobility syndrome. What should I do?

I have ehlers-danlos hypermobility syndrome. What should I do?

Maintain muscle tone: Muscle tone and strength may provide adequate dynamic stabilization across your loosest joints affected by eds. Joints commonly affected include the shoulder, and knee. Strengthening the musculature around those joints can serve you well and help prevent the need to progress to a surgical remedy to stabilize the lax joints. ...Read more

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What genes are related to ehlers-danlos syndrome, vascular type?

What genes are related to ehlers-danlos syndrome, vascular type?

Collagen 3: The vascular type of eds is due to dysfunction or deficiency of the type 3 collagen. The specific gene is called col3a1. ...Read more

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Can you have ehlers-danlos syndrome without a parent knowing it?

Ehler danlos syndrom: It is possible if parents have not been told about the diagnosis or the diagnosed was missed. ...Read more

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What is the difference between Marfan syndrome and ehlers danlos?

What is the difference between Marfan syndrome and ehlers danlos?

Marfans/ehler danlos: Both are mulisystem disorders that mostly affect the soft connective tissues. Eds caused by a defect in synthesis of collagen.It has hyperextensibility of skin and joints, early onset of osteoarthritis, hypotonia, deformity of spine
marfan
tall arms and height, affects lungs, heart and aorta, eyes causing cataract, skin problems, and tissue covering the spinal chord. ...Read more

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Could you have ehlers-danlos syndrome without a parent having it?

Could you have ehlers-danlos syndrome without a parent having it?

Yes: New mutations account for a significant number of this & many other disorders. ...Read more

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Would Ehlers-Danlos syndrome cause an elevated ANA? Titre 1:640.

Would Ehlers-Danlos syndrome cause an elevated ANA? Titre 1:640.

NOT: Generally..... this syndrome is inherited whereas a elevated ANA indicates an ACQUIRED rheumatic disorder and a complete rheumatological evaluation is indicated!

Hope this is helpful
Dr Z ...Read more

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Is there any pain relief from ehlers danlos syndrome hypermobility?

Is there any pain relief from ehlers danlos syndrome hypermobility?

Difficult problem: Because of vascular bleeding it is difficult to give you a definitive answer. You are better off going to a pain clinic preferably at a teaching hospital where they can taylor make a pain medicine cocktail for you, since they would have more experience with your type of problem. ...Read more

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How likely is ehlers-danlos syndrome if one parent has symptoms/signs?

How likely is ehlers-danlos syndrome if one parent has symptoms/signs?

From 0 to 50%: Ehlers-danlos syndrome (eds) is a group of inheritable disorders. There are two different inheritance patterns of eds, autosomal dominant and autosomal recessive. If you have the dominant type, there's a 50% risk of eds in your child. If you have the recessive type, eds can only occur if your partner also carries the recessive gene. A genetic counselor is needed to tell you your exact risk. ...Read more

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What can someone do for hypermobility syndrome / ehlers-danlos syndrome?

What can someone do for hypermobility syndrome / ehlers-danlos syndrome?

Strengthen: Strengthening opposing muscle groups helps stabilize joints. Avoid concussive sporting activities such as tennis, but leap to activities suck as cycycling, ei. Stationary, or road (mtb) bike. But stabilizing your joints with my recommendations, which involved weight or machines is best. (machines are safeest, because your joints are tracked in a specific motion.) hypermobility causes arthritis. ...Read more

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Any relation between Ehlers Danlos Syndrome and gastric telangiectasias?

Any relation between Ehlers Danlos Syndrome and gastric telangiectasias?

Ehlers Danlos: This type of EDS is the result of mutations in type III collagen which is abundant in major blood vessels, skin, and hollow viscera. Diagnosis is based on presence of two of the following: thin, translucent skin, arterial/intestinal/uterine rupture, easy bruisability, and facial features. ...Read more

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Can you have ehlers-danlos syndrome without a parent having it diagnosed?

Can you have ehlers-danlos syndrome without a parent having it diagnosed?

Yes: Ehlers-danlos syndrome (eds) is a group of inheritable disorders. Some types have autosomal dominant inheritance (everyone with one gene gets the condition) and other types have autosomal recessive inheritance. If both parents have a single recessive gene for the same variety of eds, neither parent will have the condition but their kids have a 25% risk of having eds and 50% risk of being a carrier. ...Read more

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I have really stretchy skin. Worried I might have ehlers-danlos syndrome?

Possibly: However, the hallmark of eds is increased extensibility of joints. If you do not have this, you do not have eds. ...Read more

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Can someone with ehlers-danlos syndrome get collagen injections in their face?

Can someone with ehlers-danlos syndrome get collagen injections in their face?

Probably no: An interesting question. My guess would be to avoid them as your connection tissue will not respond in a normal way to these injections. ...Read more

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What is the connection between ehlers danlos and keratosis pilaris? Thank you.

What is the connection between ehlers danlos and keratosis pilaris? Thank you.

Different entities: Ed is a connective tissue disorder, with lax tissues.
Kp is an epithelial disorder with, prominant papular skin.
Neither has very effective treatment.
Moisturising and some rx can minimise symptoms of kp. ...Read more

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What are the signs of Ehlers Danlos Syndrome Hypermobility Type in a young child?

What are the signs of Ehlers Danlos Syndrome Hypermobility Type in a young child?

Joints are very loos: The joints are hyper-extendible and you can bend the wrists backwards a lot. ...Read more

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How likely is ehlers-danlos syndrome if one parent has some characteristics of it?

From 0 to 50%: Ehlers-danlos syndrome (eds) is a group of inheritable disorders. There are two different inheritance patterns of eds, autosomal dominant and autosomal recessive. If you have the dominant type, there's a 50% risk of eds in your child. If you have the recessive type, eds can only occur if your partner also carries the recessive gene. A genetic counselor is needed to tell you your exact risk. ...Read more

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Am going to be olympian due to hypermobility. Does this sound like ehlers-danlos syndrome?

Am going to be olympian due to hypermobility. Does this sound like ehlers-danlos syndrome?

Hypermobility: Ehlers danlos syndrome does have hyperflexible joints - this does not mean you will an olympian. If you think you have ehlers danlos then see your doctor to get a confirmed diagnosis. ...Read more

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I was given a diagnosis of ehlers danlos syndrome? What are the treatment options for this?

I was given a diagnosis of ehlers danlos syndrome? What are the treatment options for this?

Not many: There are no specific treatments. Options such as pain meds or splinting are reserved for severe cases. ...Read more

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What type of complications can a woman with ehlers danlos syndrome encounter from having a baby?

What type of complications can a woman with ehlers danlos syndrome encounter from having a baby?

Pregnancy with EDS: Most of the patients with eds tolerate pregnancy without any difficulty with normal pregnancy and birth. Except in eds type 4 it can be associated with severe maternal complications. Most of the time the decision is made to do a cesarian section. ...Read more

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How likely is ehlers-danlos syndrome if mom and her brother's kids and some cousins have features of it?

Very likely: It is a genetic autosomal dominant for the most part and so it is expected that you wouls have relatives woudl also have it. You chance is 1 out of 2 or 50% that you can have it. ...Read more

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4 years ago, I broke my scaphoid. I still have intense occasional pain. Is this normal? I have ehlers danlos so could that be causing it?

4 years ago, I broke my scaphoid. I still have intense occasional pain. Is this normal? I have ehlers danlos so could that be causing it?

Very likely: Trauma may lead to chronic pain even after the fracture is healed especially in those with congenital condition like you have. Physical therapy and occasional anti-inflammatory medications may help. ...Read more

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Cispr can edit our geno dna. Does this mean they could cure ehlers danlos syndrome by editing the faulty collagen to normal? How amazing?

Gene therapy: Crispr (clustered regularly interspaced short palindromic repeats) is an an immune strategy that bacteria use to detect and chop up foreign dna. By introducing the enzymes responsible for this process into human cells, genetic engineering can be performed. Treating a disease using this technology will be quite challenging, but I have no doubt this will eventually make it into clinical trials. ...Read more