It is difficult to imagine a person who cannot laugh, cry and express any emotions. However, there are such people, and they have been given a terrible diagnosis - Moebius syndrome. A photo of such people at first glance may seem quite normal, but with live communication you understand that their face is completely immobilized.
This is a congenital anomaly that develops for the main reason due to the abnormal structure of the cranial nerves. Facial paralysis is one of the most terrible defects of the human body. It is characterized by the absence of facial expressions, the face seems frozen and looks like a mask.
History reference
For the first time in medicine, the syndrome was described in 1892 by the German neuropathologist and psychiatrist Paul Mebius. This anomaly is extremely rare, with a maximum of 10-20 times per 1 million children born.
The German doctor Paul Julius Mebius was born in Germany in 1853 and lived there all his life. The scientist investigated the clinical development of progressive paralysis, neuropsychiatric abnormalities with thyrotoxicosis. He made a description of ophthalmoplegic migraine, calling it Moebius disease.
Estimated Development Causes
The most severe form of pathology is considered Mobius syndrome, the reasons for the development of which are still unknown to medicine. Opinions of researchers and experts are divided.
- The first consider that the reason is the abnormal development of cranial nerves.
- The second is sure that this is a detrimental effect of destructive processes developing as a result of oxygen starvation of the baby in the womb.
- Others, as the main cause of the formation of the disease, indicate the abnormal development of the motor facial center.
Moebius syndrome - this disease is quite old and very mysterious. This is a congenital anomaly of the facial muscles, which is why facial expressions are completely absent. Paralysis can be one- or two-way. A person does not react to external stimuli in any way, does not smile, does not frown, is completely devoid of emotions.
The sucking reflex is poorly developed in children, they cannot swallow food and water on their own because of the weakened function of the tongue. Often ailment occurs in several family members.
Symptoms of the disease
Moebius syndrome is a congenital neurological disorder that is quite rare. People with this pathology lack the ability to move the muscles of the face, eyes from side to side. Such a disease entails serious violations in the functioning of the musculoskeletal system and deformity of the feet.
The main clinical manifestation of the syndrome is a restriction of mobility, but there are other, pronounced, confirming that it is Moebius syndrome, symptoms:
- anatomical abnormalities;
- deformed foot;
- difficulty swallowing and sucking;
- sensory disturbances ;
- weakening of the functions of the language;
- visual impairment.
There is also a violation of vestibular excitability and the absence of lacrimal secretion. The skin of a sick person on the face is stretched, without wrinkles, even with laughter or crying. In relation to subcutaneous tissue, it does not move, the corners of the mouth are always omitted.
The defect is accompanied by an abnormality of the limbs, such as syndactyly, clubfoot, brachidactyly and extra fingers. With partial paralysis, the muscles of the upper part of the face mainly participate in the process, the tissues do not sag as much as with an acquired disease.
Pathology diagnostics
Such an anomaly as Moebius syndrome is quite rare. Diagnosis, therefore, especially in young children, is difficult and often leads to an incorrect diagnosis, which is more dangerous and requires surgical treatment, for example:
- cerebral paralysis;
- blindness;
- deafness.
Examination and further therapy are conducted in this direction.
Modern medicine cannot yet fully study the cause of the appearance of such an ailment; therefore, it is also not possible to completely cure it. Studies and studies of the genetic material of patients at the chromosome level in search of cell mutations are ongoing.
Today, doctors set themselves the task of helping parents of children suffering from this syndrome in maintaining normal life at every stage of life. This is possible when correcting speech, 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 identify the psychological and clinical mechanisms of disorders.
The diagnosis of abnormal development includes psychological, pedagogical and clinical genetic research. It is carried out to determine the level of delay in the development of emotional-behavioral, intellectual and speech. It also affects the establishment of the relationship of the underlying disease with other pathological manifestations, age and neurological condition of the patient.
Moebius syndrome treatment
To get rid of such an insidious disease as Moebius syndrome, only surgical treatment will help. It is impossible to completely cure the disease, in addition to cosmetic deformity, violation of swallowing functions and other body problems that entail a vice, patients experience intense psychological stress throughout their lives. This condition can be relieved exclusively by surgery.
With the help of plastic surgery, it is possible to create artificial facial expressions, which means that the patient will be able to lift the corners of his mouth, experiencing a feeling of joy. The rest of the face will remain immobilized and expressionless. There are cases that after such procedures, patients are disappointed with the results. Therefore, before the operation, the patient is fully informed about the consequences and possible complications.
Psychology of Social Relations
This operation is quite complicated from 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 suffering from such a vice 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 cannot fully develop. Due to the fact that a person is deprived of the opportunity to smile and has a pronounced squint, he is undeservedly perceived as an intellectually retarded person. Although mental retardation is observed in only 10% of patients.
It is very difficult for the interlocutors to understand what kind of reaction their words provoke and what a person experiences at that moment. All this interferes with normal communication, making patients with Mobius syndrome outsiders.
Moebius syndrome in children
Small children tend to express different emotions quite often, so a child suffering from Möbius syndrome is immediately visible. He does not react to external stimuli, does not cry, does not laugh, and even blinks with difficulty. Only by sounds can we vaguely understand what a baby needs.
From the very beginning, such children have a motionless face, there is a clear asymmetry, an open mouth, eyes are poorly closed, a child can follow objects only by moving his head. Rarely there is a delay in mental development, the patient needs a massage not only of the face, but also of the tongue, developing articulation exercises.
Symptoms in a newborn
Moebius syndrome is a hereditary pathology, the type of inheritance is autosomal recessive or, less commonly, dominant. When the syndrome is still in the hospital, the mother notices that the child’s facial expressions are unnatural, he does not cry and does not close his eyes sometimes at night. Such children also have abnormal defects:
- absence or fusion of fingers;
- deformation of the auricles;
- epicanthus.
Although the specific causes of the disease have not yet been established, doctors suggest that taking drugs and drugs during pregnancy increases the risk of pathology. Fully Mobius syndrome in children can not be cured, although with age its manifestation becomes milder.
Communication skills training
Thanks to special trainings organized by Danish professors, people with Moebius syndrome improve their social communication skills. The purpose of the training is to enhance the paralinguistic means of communication using intonation and various gestures.
The effectiveness of the studies was repeatedly proved by experiments and observations; during the dialogue, patients cease to feel nervous, do not fuss and become more relaxed. According to the results of the patients themselves, many do not feel any improvement.
The project is co-authored by Kathleen Bogar, who was diagnosed with Moebius syndrome. Having built a career and become a successful doctor, she pursues the main goal in her work - to develop a program that will help people with Mobius syndrome adapt in society.