Genetic Disorder Research by Nele Scurla https://padlet.com/1077478/ppeivsf6hd6stghw Duane Syndrome - Nele Scurla Period 1 en-us 2022-05-02 15:36:15 UTC 2025-11-25 17:10:25 UTC hello@padlet.com Duane Syndrome 1077478 https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2167012874  What are the consequences of Duane Syndrome and what in the body is responsible for this?
How many people have Duane Syndrome and how can you diagnose it?
Is there a current treatment that fully decreases the disorder?
Do the people get benefits or help from organisations or celebrities?


]]> 2022-05-02 16:10:23 UTC https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2167012874 What is it? 1077478 https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2168699705  Duane syndrome is an eye movement disorder present at birth characterized by horizontal eye movement limitation.

A limited ability to move the eye inward toward the nose, outward toward the ear, or in both directions.When the affected eye(s) moves inward toward the nose, the eyeball retracts (pulls in) and the eye opening narrows. In some patients, when the eye attempts to look inward, it moves upward or downward.


]]> 2022-05-03 17:30:29 UTC https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2168699705 Causes 1077478 https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2168700841  Duane syndrome is caused by an abnormality in the early development of the cranial nerve involved in eye movement. The exact cause for this is unknown. Duane syndrome usually occurs in a family for the first time, without any previous family history . In some cases, Duane syndrome is inherited from an affected parent.

* The cranial nerves are a set of 12 paired nerves in the back of the brain


]]> 2022-05-03 17:31:12 UTC https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2168700841 Symptoms 1077478 https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2168703636 Isolated Duane retraction syndrome is a disorder of eye movement.

This condition prevents outward movement of the eye (toward the ear), and in some cases may also limit inward eye movement (toward the nose).

As the eye moves inward, the eyelids partially close and the eyeball pulls back (retracts) into its socket. Most commonly, only one eye is affected.

About 10 percent of people with isolated Duane retraction syndrome develop amblyopia ("lazy eye"), a condition that causes vision loss in the affected eye.


]]> 2022-05-03 17:32:56 UTC https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2168703636 Incidence 1077478 https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2168704869  It has been estimated that approximately 1 in 1000 and 1 in 10,000 people worldwide have Duane syndrome.

Duane syndrome is found in 1-5% of all cases that involve conditions where both eyes do not line up in the same direction (strabismus).

Females are more likely to be affected than males.


]]> 2022-05-03 17:33:44 UTC https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2168704869 Inheritance 1077478 https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2168706584 Familial cases most often have an autosomal dominant pattern of inheritance, which means one copy of the mutated gene in each cell is enough to cause the disorder.

When isolated Duane retraction syndrome is caused by CHN1 mutations, it has an autosomal dominant inheritance pattern. The chromosomal location of the proposed gene for this syndrome is currently unknown.

Some research shows that more than one gene may be involved. There is evidence that a gene involved in the development of DS is located on chromosome 2.


]]> 2022-05-03 17:34:51 UTC https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2168706584 Diagnosis 1077478 https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2168712948 The diagnosis of Duane syndrome is based on clinical findings.

Mutations in the CHN1 gene are associated with familial isolated Duane syndrome.

 Direct sequencing of the CHN1 gene is available as a clinical test, and has to date detected missense mutations in seven patients and affected family members.


]]> 2022-05-03 17:38:50 UTC https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2168712948 Treatment 1077478 https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2168714333  There's no cure for Duane syndrome, but surgery can be used to try to improve or eliminate issues with head turns, reduce or completely remove considerable misalignment of the eyes, reduce severe retraction of the eyeball, and improve the inclination of the eye to deviate upward or downward with particular eye movements.


]]> 2022-05-03 17:39:47 UTC https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2168714333 Discovery 1077478 https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2168715221 The syndrome was first described by ophthalmologists Jakob Stilling (1887) and Siegmund Türk (1896), and subsequently named after Alexander Duane, who discussed the disorder in more detail in 1905.


]]> 2022-05-03 17:40:25 UTC https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2168715221 Support 1077478 https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2168716811 Cleft Lip and Palate Foundation of Smiles

Genetic and Rare Diseases (GARD) Information Center

Let Them Hear Foundation


]]> 2022-05-03 17:41:26 UTC https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2168716811 Promotion 1077478 https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2168741152 Judi Dench, known widely for her role as M in the James Bond films, revealed that she has Duane Syndrome. Her vision has limited her in some capacity. Even with this issue, she never allowed it to have a big impact on her appearance in movies. ]]> 2022-05-03 17:57:39 UTC https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2168741152 High Awareness 1077478 https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2168744122  Duane Syndrome has been present since birth.

That doesn't mean it is immediately  noticeable. It can take several years before you notice that something is wrong.

The fact that young children cannot vocalize the fact that they are having trouble with their vision, while older children may have learned to compensate very well for their visual difficulties.


]]> 2022-05-03 17:59:41 UTC https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2168744122 Attention and Research 1077478 https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2168746125 There are groups and organizations which take care about the people with this specific disorder. They help each other to handle their life and meet or have contact per social media.

 Besides the fact that it helps them to live with the disease, it will prevent mental health issues.

People have been trying for years to fully decrease the disease but there is no help to solve this issue so that you can live a normal life until now.


]]> 2022-05-03 18:00:59 UTC https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2168746125 Money 1077478 https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2168747072 The U.S. Social Security Administration gives disability benefits to people with Duane Syndrome.

They don’t give people to all the issued people only to those who have inadequate problems and have a hard time finding good jobs.


]]> 2022-05-03 18:01:34 UTC https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2168747072 Attention 1077478 https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2168748501 I think this disease gets attention because the incidence is high so a lot of people have this genetic disorder.

People try to find a solution to decrease it in order to let people live a normal life and have no issues to find a job and a connection to people.

 In addition to that, I think that the risk is high that the disorder can mutate to something even worse like blindness. 



]]> 2022-05-03 18:02:35 UTC https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2168748501 Sources 1077478 https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2171714946 https://rarediseases.org/rare-diseases/duane-syndrome/ 

https://www.childrenshospital.org/conditions/duane-syndrome 

https://medlineplus.gov/genetics/condition/isolated-duane-retraction-syndrome/
]]> 2022-05-05 16:24:07 UTC https://padlet.com/1077478/ppeivsf6hd6stghw/wish/2171714946