Moebius Syndrome Research Paper Examples

A neurological impairment, Moebius Syndrome is caused by a congenital defect. It mainly affects the muscles controlling eye movement and facial expression. Moebius Syndrome is a rare disease with unusual signs and symptoms. It is characterized by paralysis or weakness of the facial muscles, and usually manifests itself in the early stages of infancy. Those who have the illness usually cannot make facial expressions, such as raising the eyebrows, frowning, or smiling. More importantly, the muscle impairment causes feeding problems that are observable in early infancy (ghr.nlh.nih.gov, 2015).
Moebius Syndrome has a host of other signs and symptoms. For example, many people born with this rare condition have a small chin (micrognathia), a small mouth (microstomia), with a short or oddly-shaped tongue (ghr.nlh.nih.gov, 2015). As a result, many children will have speech impediments, to some degree. A cleft palate or a high, arched mouth opening may also be present. Moebius Syndrome commonly causes dental abnormalities, such as misaligned or missing teeth. The muscles responsible for back-and-forth eye movements are also affected by this anomalous condition. Thus, reading and following the movement of objects involves a side-to-side head movement, as the eyes cannot track objects independently. Moreover, the disorder causes those affected to have difficulty making eye contact, and they may also have difficulty looking in one direction -- a condition known as strabismus. Dry and irritated eyes may result from an inability to close the eyes completely when sleeping or blinking (ghr.nlh.nih.gov, 2015). Moebius Syndrome is also characterized by other abnormalities, such as, "bone abnormalities in the hands and feet, weak muscle tone (hypotonia), and hearing loss. Affected children often experience delayed development of motor skills (such as crawling and walking), although most eventually acquire these skills" (ghr.nlh.nih.gov, 2015, internet). Moebius Syndrome's prevalence ranges from "1 in 50,000 to 1 in 500,000 neonates" (ghr.nlh.nih.gov, 2015, internet).
Moebius Syndrome's causes are difficult to pinpoint, and can only be theorized in light of the evidence from electromyography, nerve conduction studies, and brain stem evoked potential abnormalities could be helpful in locating lesion sites in the brain -- from which cranial nerves emerge. Some studies have suggested that a supranuclear site located in the inferior colliculus or the lateral leminiscus caused abnormal auditory evoked potentials in 2/3 of studied siblings with the condition. Moebius himself theorized that degeneration of the sixth and seventh nerve cranial nuclei were responsible for the condition. It is likely that Moebius Syndrome is a multitude of overlapping conditions. Many disturbances of pathology can produce a phenotype recognizable as Moebius syndrome. The vast spectrum of congenital defects is due to some type of developmental problem during the early developmental phase of the fetus (Kumar, 2015). In addition, a 15 subjects with Moebius Syndrome (consisting of two generations) have revealed signs such as digital anomalies, club foot, and arthrogryposis (Kumar, 2015). Furthermore, genotypes such as autosomal recessive, autosomal dominant, as well as an X-linked recessive hereditary pattern have been revealed. These genotypic abnormalities are highly-associated with certain skeletal abnormalities (Kumar, 2015). It is unclear how offspring of those with Moebius Syndrome are affected as it is unknown whether the condition is autosomal recessive or autosomal dominant (Kumar, 2015). According to ghr.nlh.nih.gov (2015), Moebius Syndrome does not have a clear inheritance pattern. Thus, it is extremely difficult to decipher which genes are responsible for the aberrant phenotypes.
Nevertheless, children with Moebius Syndrome have special needs that should be addressed from infancy onward. It is a good idea to assemble a team of multidisciplinary specialists. An operation called free muscle transplantation can benefit children who suffer from facial paralysis which is performed by a plastic surgeon. This surgery involves transplanting a muscle from another part of the body to the area of the face affected by the syndrome. The nerve to the muscle for chewing is attached to the nerve for the muscle, making feeding an easier process. If the facial paralysis is bilateral, the transplanted muscle can be connected by a nerve graft that crosses the face. This procedure greatly aids in lower muscular movement in the lower part of the face (facesofchildren.org, 2015).
While about 10 to 15% of children born with Moebius Syndrome will suffer a degree of mental retardation, most will have normal intellectual functioning. However, lack of facial expression may be misinterpreted as mental retardation by teachers, counselors, and other professionals. Thus, it is important for parents of afflicted children to meet and inform these well-meaning professionals about the signs of the mysterious condition. Unfortunately, sixth and seventh cranial nerve damage is considered permanent. Other aspects of the syndrome, including dental malformations, which cause eating difficulty, can cause tooth decay due to collected food particles in the teeth (facesofchildren.org, 2015). Thus, it is important to clean the affected child's teeth and gums on a frequent basis. Another issue confronting parents of children with Moebius Syndrome is during the first years of life when the child may have difficulty breathing and eating due to microstomia and micrognathia. Thus, it is important to be hyper-vigilant during feeding and overall child supervision, in order to avoid aspiration or other medical emergencies.
Overall, Moebius Syndrome is a challenging child (and adult) condition that has both an unknown etiology, and no cure. Although there are treatments that have limited success, the condition is incurable, and is a life-long condition that, with proper education and preventive care, does not lead to early mortality. Fortunately, Moebius Syndrome is an extremely rare condition, affecting a very small population of children.

References

Kumar, D. Moebius Syndrome. Journal of Medical Genetics 1990; 27:122-126. Retrieved from http://jmg.bmj.com/content/27/2/122.full.pdf
Moebius Syndrome. (2015). (n.p.). Retrieved from http://www.facesofchildren.org/M%C3%B6ebius%20Syndrome
Moebius Syndrome. (2015). (n.p.). Retrieved from http://ghr.nlm.nih.gov/condition/moebius- syndrome