Moebius syndrome: photos, symptoms, diagnosis, treatment

It is difficult to imagine a person who can not laugh, cry and express any emotions. However, there are such people, and they have a terrible diagnosis - Mobius syndrome. Photo of such people at first glance may seem quite normal, but with live communication you realize that their face is completely immobilized.

It is a congenital anomaly that develops for the main reason because of the irregular structure of the cranial nerves. Paralysis of the facial nerve is one of the most terrible malformations of the human body. It is characterized by the absence of facial expressions, the face seems frozen and looks like a mask.

Historical reference

For the first time in medicine, the syndrome was described in 1892 by the German neuropathologist and psychiatrist Paul Möbius. This anomaly is extremely rare, a maximum of 10-20 times for 1 million children born.

German physician Paul Julius Moebius was born in 1853 in Germany and lived there all his life. The scientist investigated the clinical development of progressive paralysis, neuropsychiatric disorders in thyrotoxicosis. I made a description of the ophthalmoplegic migraine, calling it the Moebius disease.

Prospective causes of development

The most severe form of pathology is considered to be Mobius syndrome, the reasons for the development of which until the end of medicine are still unknown. The opinions of researchers and specialists were divided.

• The first believe that the reason for the incorrect development of cranial nerves.
• The second is sure that this is the detrimental effect of destructive processes that develop as a result of oxygen starvation of the child in the womb of the mother.
• Still others as the main reason for the formation of the disease indicate an abnormal development of the motor facial center.

Moebius syndrome is a rather old and very mysterious disease. This is a congenital anomaly of the facial muscles, because of which there is completely no facial expression. Paralysis can be one- or two-sided. The person does not react to external stimuli in any way, does not smile, does not frown his eyebrows, is completely devoid of emotions.

Children have poorly developed sucking reflex, they can not independently swallow food and water due to a weakened function of the tongue. Often the disease occurs in several family members.

Symptoms of the disease

Moebius syndrome is a congenital neurological disorder, which is rare. People with this pathology do not have the ability to move the muscles of the face, eyes from side to side. Such a disease entails serious disruption in the functioning of the musculoskeletal system and deforming the feet.

The main clinical manifestation of the syndrome is a restriction of mobility, but there are others, clearly expressed, confirming that it is Moebius syndrome, symptoms:

• Anatomical abnormalities;
• Deformed foot;
• Difficulty in swallowing and sucking;
• Sensory perception disorders ;
• Weakening of the functions of the language;
• Impaired vision.

There is also a violation of vestibular excitability and the absence of tear secretion. The skin of a sick person on his face stretched, without wrinkles, even with laughter or crying. With respect to the subcutaneous tissue it is not displaced, the corners of the mouth are always lowered.

The vice is accompanied by an anomaly of extremities, such as syndactyly, clubfoot, brachidactyly and additional fingers. With partial paralysis, the muscles of the upper part of the face are involved in the process, the tissues do not hang so much as with the acquired disease.

Diagnosis of pathology

Quite rare is an anomaly, like Moebius syndrome. Diagnosis therefore, especially in young children, is difficult and often leads to an incorrect diagnosis, more dangerous and requiring prompt treatment, for example:

• Cerebral palsy ;
• blindness;
• deafness.

Examination and further therapy are being conducted in this direction.

Modern medicine can not yet fully understand the cause of the appearance of such a disease, therefore, it is completely impossible to cure it completely. Studies and studies of the genetic material of patients at the level of chromosomes are being conducted in search of cell mutations.

Today, doctors set themselves the task of helping parents of children with such a syndrome in maintaining normal life activity at every stage of life. This is possible with speech correction, strabismus, gait.

Timely diagnosis is necessary not only to detect various forms of developmental abnormalities, but also to assess the degree of development of mental functions and to identify psychological and clinical mechanisms of violations.

In the diagnosis of abnormal development includes psychological-pedagogical and clinical-genetic research. It is conducted to determine the level of delay in the development of emotional-behavioral, intellectual and verbal. It also affects the establishment of the connection of the underlying disease with other pathological manifestations, age and neurological condition of the patient.

Treatment of Mobius syndrome

To get rid of such an insidious disease as Möbius syndrome, only surgical treatment will help. Completely cure the disease is impossible, in addition to cosmetic ugliness, the violation of swallowing functions and other body problems that entails a vice, patients feel strong psychological stress throughout life. To alleviate this condition can be exclusively surgical.

With the help of plastic surgery, it is possible to create an artificial facial expression, which means that the patient will be able to lift the corners of the mouth, experiencing a sense of joy. All the rest of the face will remain immobilized and inexpressive. There are cases that after such procedures patients are disappointed with the results. Therefore, before the operation, the patient is fully informed of the consequences and possible complications.

Psychology of social relations

This operation is quite difficult on the technical side, its duration is rarely less than 8 hours. After it, patients are rehabilitated in the intensive care unit for two days. Fortunately, most people with such a blemish lead a normal life, work, create a family, give birth to children.

However, facial expressions for communication and social adaptation are very important. The patient can not fully develop. Due to the fact that a person is deprived of the opportunity to smile and has a marked strabismus, he is undeservedly perceived as an intellectually backward person. Although only 10% of patients have mental retardation .

Interlocutors are very difficult to understand what kind of reaction their words cause and what the person is experiencing at this moment. All this prevents normal communication, making patients with Mobius syndrome outsiders.

Möbius syndrome in children

Young children tend to express different emotions and quite often, so a child suffering from Möbius syndrome can be seen right away. He does not react in any way to external stimuli, does not cry, does not laugh and even blinks with difficulty. Only by the sounds you can vaguely understand what the baby needs.

From the very birth of these children, the face is motionless, there is a clear asymmetry, a slightly opened mouth, eyes are poorly closed, the child can follow the objects only by moving his head. Rarely is there a delay in mental development, the patient needs a massage not only for the face, but also for the language that develops articulation classes.

Symptoms of a newborn

Moebius syndrome is a hereditary pathology, the type of inheritance is autosomal recessive or less dominant. When the syndrome is still in the hospital, my mother notices that the facial expression of the child is unnatural, he does not cry and does not close his eyes sometimes and at night. In such children there are also abnormal defects:

• Absence or fusion of fingers;
• Deformation of the auricles;
• Epicanthus.

Although specific causes of the disease have not yet been established, doctors suggest that taking drugs and drugs during pregnancy increases the risk of pathology. Completely Möbius syndrome in children is not cured, although with age its manifestation becomes softer.

Trainings for improving communication skills

Thanks to special trainings organized by Danish professors, people with Mobius syndrome have better social communication skills. The purpose of the training is to activate paralinguistic means of communication with the help of intonation and various gestures.

The effectiveness of studies has been proven repeatedly by experiments and observations, during the dialogue patients no longer feel nervous, do not fuss and become more relaxed. According to the results of the patients themselves, many people do not feel much improvement.

The co-author of the project is Kathleen Bogar, who was diagnosed with Mobius syndrome. She built a career and became a successful doctor, in her work she pursues the main goal - to develop a program that will help to adapt in the society to people suffering from Möbius syndrome.