Duane syndrome

What causes Duane syndrome?

Given the evidence that Duane syndrome (DS) results from an absence of the abducens nerve (cranial nerve VI) and aberrant innervation, and that it is associated with other anomalies in some cases, it is thought to result from a disturbance of normal embryonic development by either a genetic or an environmental factor at the time when the cranial nerves and ocular muscles are developing (between the third and sixth week of pregnancy). Genetic studies of two large families with DS inherited autosomal dominantly (without associated abnormalities) established that mutations in the CHN1 gene were found to be the cause in these and several other families.

Duane-radial ray syndrome (DRRS), inherited in an autosomal dominant manner, has been shown to be caused by mutations in the SALL4 gene. However, no SALL4 gene mutations were found in 25 sporadic cases of isolated DS (occurring in one individual in a family with no additional abnormalities).

DS can also be found as part of another complex autosomal recessive disorder (that can include deafness, facial weakness, vascular malformations and leaning difficulties) due to mutations in the HOXA1 gene. In addition, chromosome studies of individuals with DS and other abnormalities have, in rare cases, shown abnormalities that suggest other locations for genes responsible for causing DS.

Last updated on 05-01-20

Can in vitro fertilization cause Duane syndrome?

While assisted reproductive technologies, like in vitro fertilization and intracytoplasmic sperm injection (ICSI) are associated with an increased risk for birth defects in general; we were not able to find information in our search of the medical literature describing an association between the use of assisted reproductive technologies and Duane syndrome.

Last updated on 05-01-20

Is there evidence that Duane syndrome can be caused by a parent taking LSD prior to conception?

We were unable to find any reports in the available medical literature that Duane syndrome may be caused by drugs (including LSD) taken by a parent prior to conception.

There have been conflicting reports in the medical literature regarding whether LSD causes chromosome abnormalities in the person using it. Early reports showed that LSD had the ability to cause chromosome abnormalities; however, other reports state that reasonable doses of LSD have no definite effect on human chromosomes.

Last updated on 05-01-20

Is Duane syndrome inherited?

The majority of cases of Duane syndrome are sporadic (occurring in individuals with no history of the condition in the family). About 10% of affected individuals appear to have other affected family members. Both autosomal dominant (most commonly) and autosomal recessive forms of Duane syndrome have been documented. In some families with dominant Duane syndrome, it has appeared to "skip a generation" (showing reduced penetrance) and it has also been shown to range in severity within the same family (showing variable expressivity). Most familial cases are not associated with other anomalies. Given the large percentage of sporadic cases, it seems likely that both genetic and environmental factors play a role in the development of Duane syndrome amongst affected individuals.

Last updated on 05-01-20

What is the probability of passing Duane syndrome on to my future offspring?

Most individuals with isolated Duane syndrome (having no other features or underlying disorder) are simplex cases (i.e., a single occurrence in a family) of unknown cause. However, up to 10% of cases of Duane syndrome are familial,, and may result from mutations in the CHN1 gene; these cases are inherited in an autosomal dominant manner with incomplete penetrance. Each child of an individual with Duane syndrome that is known to result from a CHN1 mutation has a 50% chance of inheriting the condition. However, a large degree of clinical variability exists with this condition, so not all individuals who are affected will have the same type or degree of symptoms. Prenatal diagnosis is possible for pregnancies at increased risk for isolated Duane syndrome if the mutation has been identified in an affected family member.

Individuals hoping to gain a better understanding of the specific risk posed to their offspring should consult with a genetics professional.

Last updated on 05-01-20

What is Duane syndrome?

Duane 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. Usually only one eye is affected. Some people with Duane syndrome develop amblyopia ("lazy eye"), a condition that causes vision loss in the affected eye. Most cases occur without other signs and symptoms. There are three forms of Duane syndrome, designated types 1, 2, and 3. The types vary in which eye movements are most severely restricted (inward, outward, or both). All three types are characterized by retraction of the eyeball as the eye moves inward and are inherited in an autosomal dominant fashion.

Last updated on 05-01-20

Should genetic counseling be done prior to attempting a second pregnancy?

In order to gain a better understanding of the specific risk in subsequent pregnancies, a consultation with a genetics professional is recommended.

Last updated on 05-01-20

If a first child has Duane syndrome, what is the likelihood that subsequent children will also be affected?

The risk to subsequent children depends, in large part, on whether the condition is simplex (single occurrence in a family) or familial. In order to determine this, the genetic status of the affected child's parents would need to be assessed. If a parent of the proband is affected, the risk to each sibling is 50%. When the parents are clinically unaffected, the risk to the siblings of a proband appears to be low.

Last updated on 05-01-20

Are neck pain and ringing in the ears associated with Duane syndrome?

We were unable to find information in the available medical literature about neck pain and/or ringing in the ears being present in individuals with Duane syndrome (DS). It is known that in about 30% of cases, other conditions and syndromes have been found in association with DS. One syndrome associated with DS that may involve the neck and/or ears is called Wildervanck syndrome, which is characterized by fusion of bones in the neck, Duane syndrome, and hearing loss. It has also been reported that individuals with DS often maintain a specific head posture or head turn to keep the eyes straight, and poor neck or head posture in any individual may theoretically lead to neck pain.

Last updated on 05-01-20

How might Duane syndrome be treated?

The treatment of Duane syndrome may involve surgery. The goal of surgery is to eliminate or improve head turn, eliminate or reduce significant misalignment of the eyes, reduce severe retraction (when they eyeball pulls into the socket as the eye moves toward the nose), and improve upshoots and downshoots (when the eye deviates upward or downward with certain eye movements). No specific surgical technique has been completely successful in eliminating the abnormal eye movements. However, some procedures, used either alone or in combination, may be successful in improving or eliminating head turns and misalignment of the eyes. The choice of procedure varies among affected individuals. The success rate for surgery in eliminating an abnormal head position is estimated to be 79-100%.

The management of Duane syndrome without surgery may include:

  • special seating in school to accommodate a child's head turn
  • special rear-view mirrors to help during driving
  • a prism placed on the individual's glasses to correct for the face turn (though this is not commonly used)
  • vision therapy to treat secondary convergence insufficiency (inability of the eyes to turn towards each other or sustain this position)

More detailed information about the treatment of Duane syndrome is available on Medscape Reference's Web site and can be viewed here. You may need to register to view this information, but registration is free.

Last updated on 05-01-20

Name: Yahoo! Duane Syndrome Online Support Group Url: https://groups.yahoo.com/neo/groups/duanes/info

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