Some symptoms of internal organ diseases

Symptoms of Mobius syndrome

The symptoms of Mobius syndrome depend on which nerves are affected.
Whatever symptoms a person has experienced since birth. In most cases, the sixth and seventh cranial nerves are absent, although other cranial nerves may be affected. Common Symptoms The most common signs of Mobius syndrome include:

• Facial paralysis
• Lack of facial expressions; children with Möbius syndrome cannot smile or frown (the face is often described as "mask-like")
• Infants with Moebius syndrome cannot move their eyes to track an object. Instead, they will need to turn their head completely to follow the object.
• Eyelids that don't close completely, even while sleeping
• Dry and irritated eyes
• Small chin and mouth; many people with Mobius syndrome cannot close their mouth completely
• Dental problems associated with a small jaw, misaligned teeth, or open-mouth effect (increased risk of tooth decay)
• Drooling, feeding problems, poor sucking in infancy
• Cleft palate
• Head tilt back when swallowing
• Syndactyly
• Strabismus
• Short tongue
• Weak muscle tone (hypotonia)
• Abnormal curvature of the spine (scoliosis)
• Respiratory disorders
• Sleep problems
• Weakness of the upper body, which can lead to delayed motor function
• Ear abnormalities that may lead to frequent or persistent ear infections (otitis media)
• Hearing loss (due to damage to certain cranial nerves)
• Skeletal abnormalities of the arms, legs and limbs (clubfoot)
• Other speech, swallowing and vision disorders
• Underdeveloped chest wall muscles (which may also include breast tissue)

Mobius syndrome is a congenital facial palsy in children. Mobius syndrome in children

This is a rare, poorly studied disease. It is detected in one in 30,000 newborns. It was first described in the 19th century and has since been systematically studied, but the causes of the disease have not yet been fully identified.

In addition, even in the 21st century, the pathology is difficult to treat, even if it is started in a timely manner. A child with such a disease looks emotionless - due to improper development of the cranial nerves, he is incapable of facial reactions.

He expresses his feelings with sound, for example, crying, but without a characteristic grimace. Such crying (or laughter, in case of pleasure) sounds unnatural, because it is difficult for the baby to control the apparatus.

Today, the cause of the disease is usually listed as paralysis of the facial nerves, although it can also be associated with other processes in the body, such as a lack of oxygen inside the womb.

Anatomy of cranial nerves

There are twelve pairs of cranial nerves, of which the first two arise from the brain, the rest from the trunk. Nerves are either sensory, that is, they carry sensations to the brain. Motor – control muscle movements, or mixed, both sensory and motor.

They innervate the head and neck region, with the exception of the tenth (vagus) nerve and several fibers of the 11th, which supply the chest and abdomen.

The VI cranial nerve is a motor nerve and innervates the lateral rectus muscle, which causes the eyeball to move laterally, that is, to the outer corners of the eyes. VII - mixed nerve, carries both sensory and motor impulses. The sensory part carries taste sensations from the outer 2/3 of the tongue, the soft and hard palate, which form the roof of the mouth, to the brain. The motor portion of the facial nerve controls the muscles of the face.

When the facial muscles contract, various emotions are visible on the face, such as a smile or forehead wrinkles. In addition, the facial nerve carries parasympathetic nerve fibers that control the secretion of saliva, mucous glands of the mouth and nose, and the secretion of the lacrimal gland.

Based on the extent of the disease, the disorder can be classified as:

• Moebius syndrome in children - VII and VI nerves are completely paralyzed on both sides;
• Incomplete syndrome - here some movements are present on one side of the face;
• Mobius-like forms - one side of the face is paralyzed, other cranial nerves are working.

The exact cause of Mobius syndrome is unknown. There are genetic and environmental factors.

Congenital anomalies

Bone and muscle abnormalities of the arms and legs. Club feet, missing fingers, short fingers or even a split hand. Club feet, where the feet turn inward at the ankles, are one of the most common bone deformities.

The breasts on one side of the body may be underdeveloped. Muscle tone is weak.

A child may have a small chin, a condition called micrognathia. Teeth may be missing or misaligned. The mouth is small with a short or unusually shaped tongue. The palate is high, arched or cleft.

These features add problems with speech development and feeding. The outer ear may be absent or underdeveloped. Hearing loss occurs if the VIII nerve is affected.

Symptoms

Patients with Marden-Walker syndrome have a variety of facial features, including abnormalities in the jaw, drooping eyelids, a flat bridge of the nose, low ears, and a fixed facial expression. Other manifestations of this disorder include curvature of the spine resulting in a hump, joint contractures, cleft or high arched palate, delayed growth and slow muscle movement.

Other symptoms of Marden-Walker syndrome may include a small head circumference, heart abnormalities, abnormalities in the urinary system, decreased bone mass, abnormally small eyes, a short neck, a small mouth, and/or a low hairline.

A small number of patients with this condition may also have additional tissue causing small intestinal obstruction, a narrowing of the ring separating the stomach from the first part of the small intestine that causes a blockage in the flow of partially digested food (pyloric stenosis); and/or loss of appetite, inability of the body to absorb nutrients properly, stomach pain and weight loss.

The disease is in the nature of a neurological disorder when the child is unable to move the facial muscles and eyes from side to side. This symptom is the main one in the nature of the disease, but not the only one.

Other symptoms characteristic of this disease include:

• visual impairment;
• weakening of tongue function;
• anomalies in the anatomical structure;
• deformed feet;
• sensory processing disorder;
• violation of swallowing and sucking reflexes;
• facial skin tension;
• lack of tear secretion;
• disturbances in the functioning of the vestibular apparatus.

Möbius syndrome is a fairly rare disease, so diagnosing this disease in newborns is often difficult, which often leads to an incorrect diagnosis, which carries a certain risk for the baby’s health. A newborn may be diagnosed with cerebral palsy, blindness or deafness, which in itself is not true. Treatment, accordingly, will be carried out based on an incorrect diagnosis.

Diagnosis of Möbius syndrome in a newborn

Timely diagnosis of the disease is very important, as this will allow timely detection of various forms of developmental deviations, but will also reveal the psychological and clinical mechanisms of the disorders.

The most characteristic symptom of Mobius syndrome is the absence of facial expressions.

Other symptoms that help clarify the diagnosis include:

• abnormalities of body structure;
• complete or partial dysphagia (inability to swallow), difficulty sucking;
• Often, reduced intelligence is added to the symptoms; however, intelligence in patients with Mobius syndrome may be normal.

Babies with the syndrome are difficult to feed and care for, since their wishes often have to be guessed. They require additional care in a hospital setting until the symptoms of the disease are eliminated.

The disorder is diagnosed, as a rule, within a short time after birth. The diagnosis can only be made by a doctor based on available data on the symptoms of the disease. Usually no additional procedures are required to make a diagnosis.

Source: https://nevrolog-info.ru/sindrom-mebiusa/

Other symptoms of Mobius syndrome

In some cases, underdeveloped chest muscles are associated with another condition called Poland syndrome (or Poland anomaly).
People with Polish syndrome are missing part of one of the large muscles of the chest (the pectoralis major). This abnormal development can give the breasts a concave appearance and typically causes upper body weakness and sometimes chest wall abnormalities. These missing muscles typically only affect appearance, and people with this condition do not experience any health problems directly related to the condition. However, people who also have Mobius syndrome may have other symptoms that affect movement. Some studies report that up to 20-30% of children with Möbius syndrome have also been diagnosed with autism spectrum disorder, although this association may be overestimated. Because people with Möbius syndrome are physically unable to demonstrate facial expression and may struggle to look people in the eye, these features may be interpreted as autistic behavior even if they are due to physical limitations.

Some children with Mobius syndrome may have motor, speech, or other delays. Most people with this condition do not have an intellectual disability, although assumptions may be made due to their physical struggle with speech and unique facial features.

Mobius syndrome: causes, symptoms and treatments

Möbius syndrome, also known as Möbius syndrome , is a rare neurological disorder whose symptoms already appear in newborns. It is a pathology that affects the movement and control of various facial muscles and also causes other important problems in other parts of the body.

Below we will see what is known about the causes of Mobius syndrome, what its main symptoms are, and what types of treatments are recommended to treat patients with this neurological disease.

• Maybe you are interested: "15 Most Common Neurological Disorders"

What is Mobius syndrome?

This is known as Moebius syndrome , a congenital neurological disorder that is considered very rare due to the rarity of known cases of patients with symptoms that meet diagnostic criteria.

The main effect of this pathology is the absence or underdevelopment of nerves associated with certain facial muscles, which usually results in partial or complete facial paralysis and, in some cases, deformities in various parts of the body.

• You may be interested in: “Duchenne muscular dystrophy: what is it, causes and symptoms”

Symptoms of Mobius syndrome

As we have already seen, the main symptoms of this pathology are related to poor control of the facial muscles , although they are not the only manifestations of the disease. This is a more detailed explanation of the signs of pathology:

Problems when trying to move facial muscles

Deterioration of cranial nerves, especially VI and VII, means that eyelid movement cannot be well controlled. limit the repertoire of facial expressions . The face appears to have been “frozen.”

Hypotension

Problems with the motor nerves mean that many muscles deteriorate due to lack of use .

Eye coordination problems

To work well, the eyes need a high degree of coordination in the small muscles of the face, so slight defects in these movements are noticeable in this part of the body. Additionally, deterioration of the VI cranial nerve can lead to strabismus .

Difficulty coordinating lips and tongue

Another typical symptom of Mobius syndrome, which also usually causes dysarthria (difficulty with pronunciation and speech in general.

Foot malformations

Many people with Mobius syndrome lose their legs when walking , orienting plants inward, which leads to developmental defects.

Socialization problems

This consequence arises from difficulties in moving the facial muscles, something that has a great impact on social life without using normal facial expressions.

Changes in swallowing

Swallowing costs due to problems with tongue movement. Choking and coughing are common.

Dry mouth and oral diseases

Without closing the mouth, it dries out and germs multiply . This, for example, can cause infections, malformations or tooth decay and other problems with teeth and gums.

Breathing problems

Malformations of the jaw and the inability to close the mouth well lead to some breathing complications, especially during sleep.

Causes of this pathology

Möbius syndrome is known to particularly affect cranial nerves VI and VII , although it can also damage other cranial nerves that leave the brainstem. However, the exact biological mechanism causing this degradation is unknown (in part because it is a rare pathology).

However, there are some theories about what may be going on in the health of patients with this neurological disorder.

For example, although the heritability of this syndrome is low, meaning that it usually occurs in children of fathers and mothers who do not have symptoms, or in fathers or mothers who express them, the REV3L and PLXND genes may be involved .

It is also claimed that Möbius syndrome may be caused by problems during fetal development related to environmental or genetic changes, such as the cessation of blood flow to the fetal brain.

treatment

There is currently no known intervention that guarantees a definite cure for Mobius syndrome with a good margin of probability. Thus, the treatment used in patients with this pathology is not aimed at cure, but at mitigating the negative impact of symptoms and helping with socialization and employment.

In this sense, interdisciplinary work is necessary between various health professionals, such as neuropsychologists, neurologists, speech therapists, pediatricians and clinical and health psychologists, among others.

In psychotherapy, you can work through cognitive behavioral therapy to change limiting beliefs and improve patients' self-esteem, as well as teach them social skills, which, along with the work of speech therapists, will help break the isolation that these people often suffer.

You can also resort to surgery to correct any malformations that occur, although you always try to correct bad postures so they don't reoccur in the future.

Neonatologist, neurologist Answers to questions: “Neuropathy of the facial nerve of central origin.” (September 2020)

Source: https://ru.yestherapyhelps.com/moebius-syndrome-causes-symptoms-and-treatments-12859

Causes of Mobius syndrome

The exact cause of Mobius syndrome is not known.
Researchers suspect that, like many other rare conditions, it is likely caused by many different factors (multifactorial). Environmental exposure and genetics have been implicated in some studies, but more research is needed. Rarely, Möbius syndrome occurs in families (less than 2 percent of cases), suggesting that there may be a genetic component in some cases. Most cases of Mobius syndrome develop randomly (sporadic) in people with no family history.

Moebius syndrome is extremely rare. Although the exact number of cases worldwide is unknown, it is estimated to occur in every two to twenty people per million. Men and women suffered equally.

Diagnosis of Mobius syndrome

There is no specific test to diagnose Moebius syndrome.
Because this condition is present at birth, it can usually be diagnosed during a thorough examination of the newborn. Although the specific manifestations depend on underdeveloped or absent cranial nerves, there are three diagnostic criteria for making a diagnosis of Mobius syndrome. Diagnostic criteria:

• Paralysis or weakness of at least one side of the face (usually both)
• Lateral eye movement is paralyzed
• Vertical eye movement is intact

Health care providers may do more specialized testing (such as neurological or ophthalmological tests) to rule out other conditions that may cause facial palsy and other symptoms of Moebius syndrome.
It is very important that the correct diagnosis is made soon after birth. Children with Mobius syndrome typically need to work with a team of health care professionals, but the earlier intervention and care teams are assembled, the better long-term outcomes for patients.

Although Möbius syndrome is not progressive, the pattern of symptoms can be problematic for each patient individually depending on the specific nerves affected, the severity of the condition, and the availability of prompt diagnosis, treatment, and supportive resources.

What can modern medicine do?

The disease is difficult to treat and cannot be completely cured, since even now its mechanism has not been studied in sufficient detail. Nevertheless, in the conditions of modern healthcare, it is possible to partially reduce the symptoms and greatly alleviate the fate of the patient.

Both symptomatic treatment of Moebius syndrome and surgical intervention are carried out. To reduce the severity of symptoms, correction of strabismus is used, speech therapy is carried out to improve pronunciation.

Surgery helps to significantly reduce the severity of the pathology. For treatment, the patient's muscles are taken (usually the thigh muscles) and transplanted to the face. After such an operation, the patient is able to partially express his emotions through facial expressions and completely close his lips.

With the support of charitable organizations, treatment is provided free of charge.

Treatment of Mobius syndrome

Each person with Mobius syndrome will have different needs.
Although there is no specific treatment or cure for this condition, a team of specialists can help coordinate care for people with Mobius syndrome. Because the diagnosis can usually be made at birth or shortly thereafter, early interventions such as physical, occupational, and speech therapy can be done early. A thorough eye examination and ongoing support from an ophthalmologist can help resolve vision problems. If your hearing is impaired, you can contact an audiologist.

Other professionals who may be involved in care include:

• Pediatricians and pediatric surgeons
• War, nose and throat specialists
• Respiratory specialists
• Neurologists
• Maxillofacial surgeons
• Plastic surgeons
• Psychiatrists
• orthopedists

Surgery for Mobius syndrome

If symptoms are severe, surgery may be required.
In some cases, nerve grafts from other parts of the body can be used to replace missing cranial nerves. Other surgical procedures that may be necessary include:

• Surgery on the eye or eyelid to improve vision and correct squint
• Oral surgery to solve dental problems
• Orthopedic procedures (or non-surgical interventions such as splinting) to improve mobility
• Braces or surgery to correct scoliosis

Surgery for Mobius syndrome

One fairly recent surgical innovation is known as “smile surgery.”
The procedure involves removing a nerve from the thigh and grafting it to the face, specifically to the muscles that help a person chew (massager). The surgery has improved facial mobility and speech in some patients with Mobius syndrome, including successfully restoring the ability to make certain facial expressions, such as smiling. For patients diagnosed with Polish syndrome, cosmetic surgery procedures are available in many cases to correct structural abnormalities of the chest wall, including breast tissue.

Signs and symptoms

The impairment and severity of Moebius syndrome varies greatly among individuals. Classically accepted diagnostic criteria include:

1. facial paralysis or weakness affecting at least one, but usually both sides of the face (7th cranial nerve);
2. lateral eye movement palsy (6th cranial nerve);
3. maintaining vertical eye movements.

Less commonly, other cranial nerves may be affected, including the 5th, 8th, 9th, 10th, 11th, and 12th.

Children with Mobius syndrome may drool excessively and have cross-eyed eyes. Because the eyes do not move from side to side (laterally), the child is forced to turn his head to follow objects. Babies who lack facial expression are often described as wearing a "mask" (see photo below), which is especially noticeable when laughing or crying.

Living with Mobius syndrome

Although the condition is not considered genetic, if Mobius syndrome runs in the same family, genetic counseling may be helpful.
While children with Mobius syndrome often catch up with any developmental or motor delays they experience and have normal intellectual functioning, they may still have difficulty socially with peers or in school due to their uniqueness. condition. Supportive counseling and educational resources may be helpful for families.

If children do have learning difficulties, for example due to physical limitations such as poor eyesight, special education programmes, tutoring or home schooling may be considered.

Because Möbius syndrome is so rare, some parents may send a letter or brief explanation to their child's teacher before they start school. The Mobius Syndrome Foundation has a template that families can use to start this conversation with caregivers, educators and health care professionals who may be unfamiliar with the condition.

A word from Health-Ambulance

Möbius syndrome is usually diagnosed at birth, and prompt diagnosis and treatment is important to ensure that a person with the condition receives the support they need.
While some children with Moebius syndrome may experience motor or speech delays, these are usually the result of physical symptoms related to the mouth or limb muscles. Most people with Möbius syndrome do not have any intellectual delays, although some studies have shown that children with Möbius syndrome may be more likely to have autism spectrum disorder. Although there is no definitive cure or cure, there are many treatment options, including occupational and physical therapy and specialized surgery.