Mobius syndrome is a rare genetic disease, primarily characterized by the inability to use the facial muscles. Even though there is no cure at present, affected individuals can lead rich and full lives.
Sings and Symptoms
Mobius syndrome (also spelled Moebius syndrome) is rare neurological disorder that is present at birth. The most striking characteristic of this disorder is that affected individuals are not able to move their facial muscles as a result of the underdevelopment of the VI and VII cranial nerves.
Besides this, there are some other features of the condition that can be discerned, including
- Crossed eyes
- High or cleft palate
- Short or deformed tongue
- Dental problems
- Hearing difficulties
- Hand or feet deformities
Four categories of the syndrome are recognized:
- Category 1: Small or absent nuclei of the brain stem that control the cranial nerves.
- Category 2: Loss and degeneration of neurons in the facial peripheral nerve.
- Category 3: Loss/degeneration of neurons and other brain cells along with small areas of damage and hardened tissue in the nuclei of the brainstem.
- Category 4: Muscular symptoms despite lack of obvious damage to the cranial nerves.
Genetics of Mobius Syndrome
Mobius syndrome is usually sporadic, meaning that it occurs in families without a history of the disorder. There are some reports of the syndrome occurring in families, but this is very rare. At present, the causes for the syndrome have not yet been unequivocally identified. There are some indications that abnormalities in chromosomes 3, 10 and 13 are involved.
Some environmental risk factors have also been suggested, such as certain medications used during pregnancy, as well as drug abuse during this period.
Prevalence and Prognosis
Even though the numbers are not entirely analogous across studies, it is estimated that the disorder has a prevalence of roughly 1 in every 50,000 to 500,000 births.
While there currently is no treatment, the disorder is certainly manageable. Affected individuals can lead long and fulfilling lives. In order to achieve this, it is important that the people in their surroundings are aware of the fact that they cannot convey emotion through their facial expression. However, they can convey their emotional state through body language or vocal tone. Many affected individuals went on to achieve success in their lives without any unnecessary intervention.
Treatment
As mentioned above, there are no cures for the syndrome at present. However, through proper care the syndrome can certainly be managed. Treatments focus primarily on dealing with the symptoms of specific patients. Surgery might be required to correct limb deformities, while physical and speech therapy can be used to improve motor skills and coordination. There even have been nerve and muscle transfers performed to the corners of the mouth, resulting in a limited ability to smile.
References
- Cleveland Clinic: https://my.clevelandclinic.org/disorders/mobius_syndrome/hic_mobius_syndrome.aspx
- Genetics Home Reference: https://ghr.nlm.nih.gov/condition/moebius-syndrome
- Meyerson, M.D. (2001). Resiliency and success in adults with Moebius syndrome. Cleft Palate Craniofacial Journal, 38(3), 231–235.
- Moebius Syndrome Foundation: https://www.moebiussyndrome.com/
- National Institute of Neurological Disorders and Stroke: https://www.ninds.nih.gov/disorders/mobius/moebius.htm
