Diseases

Foix-Chavany-Marie Syndrome – Causes, Symptoms & Treatment

Foix-Chavany-Marie-Syndrome

The Foix-Chavany-Marie syndrome refers to bilateral paralysis of the facial, chewing and swallowing muscles. It is caused by damage to the cerebral cortex and leads to speech and eating disorders. Therapy can improve the patient’s condition, but full recovery is not possible.

What is Foix-Chavany-Marie Syndrome?

Foix-Chavany-Marie syndrome is a rare neurological syndrome. There is less than one patient with the syndrome for every million patients. So far, only about 150 affected patients have been recorded.

The disease was named after its discoverers Charles Foix, Jean AE Chavany and Julien Marie. The terms faciopharyngoglossomasticatory diplegia and bilateral anterior operculum syndrome (AOS) are different names for the same condition. Foix-Chavany-Marie syndrome is the result of bilateral damage to the cerebral cortex, i.e. the operculum.

It results in patients having no control over their facial, swallowing, and chewing muscles. Accordingly, one speaks of a dissociation of voluntary motor functions. In the ICD-10 classification, it is listed under the abbreviation G12.2 as a motor neuron disease.

causes

Bilateral damage to the cerebral cortex in the central region of the brain is the cause of Foix-Chavany-Marie syndrome. Cranial nerves V, VII, IX, X, XII are particularly affected. Their dysfunctions are the reason for the symptoms of affected patients. The damage to the cerebral cortex can either be congenital or occur as a result of other medical problems.

Age has no influence on the onset of the disease. Although familial cases have been described, it cannot be assumed that the syndrome is hereditary. Unless the Foix-Chavany-Marie syndrome is caused by a congenital malformation, it can also be due to other conditions such as encephalitis , seizures such as in epilepsy , head trauma or stroke .

In the course of an illness as a result of a stroke, no case has been documented in which the Foix-Chavany-Marie syndrome occurred after the first stroke. So far, at least two or three strokes have always been assumed. If it occurs suddenly in adulthood, vascular changes are often the cause of damage to the cerebral cortex. In rare cases, sudden illness can also be caused by brain tumors .

Symptoms, Ailments & Signs

In the course of an illness, bilateral paralysis of the facial, chewing and swallowing muscles develops. This paralysis causes patients to suffer from speech difficulties and eating disorders. The reason for this is the lack of control over the required muscles.

Excluded from the paralysis are emotional impulses. People affected by Foix-Chavany-Marie syndrome can still smile or cry. Only a planned strain on the muscles is not possible for them. Patients with this syndrome usually have a toneless face.

The mouth is slightly open and cannot be closed on its own. Uncontrolled salivation occurs due to the open mouth and dysfunctions . Exceptions are cases where the swallowing reflex is sufficient.

The muscular dysfunctions are also the reason that most patients are mute. For example, the tongue is almost immobile, although there is no muscle atrophy or fibrillation. Trismus can occasionally occur as a result of an increased jaw reflex.

Diagnosis & History

A suspicion of the Foix-Chavany-Marie syndrome can be determined by anamnesis or a clinical finding. Certain comorbidities that often occur together with the syndrome serve as clues. This includes all syndromes associated with bulbar paralysis .

In children, motor development disorders or epilepsy-like seizures are considered signs. Foix-Chavany-Marie syndrome also often occurs together with polymicrogyria or worst-drought syndrome. An actual damage to the cerebral cortex on both sides can be detected by means of a nuclear spin tomography or an MRI .

Overall, those affected are divided into five patient groups. The classification is based on the applicable causes of the disease. The course of the disease is stationary and intermittent. A reversible development of the disease is also conceivable. Especially if the syndrome occurs in childhood as a concomitant disease to epilepsy.

In general, the Foix-Chavany-Marie syndrome has no effect on life expectancy, but only limits the quality of life. Patients can become silent or lose the ability to eat independently. Since the affected brain center is also responsible for the ability to write, this can also be impaired in some cases.

complications

The Foix-Chavany-Marie syndrome, in particular, severely restricts motor skills. However, the effects of the syndrome are different for all patients. In most cases, there are restrictions in the facial muscles. As a result, certain natural movements, such as laughing, are not readily possible.

The Foix-Chavany-Marie syndrome can also lead to swallowing disorders , so that those affected suffer from an increased risk of aspiration. The movement of the facial muscles is severely restricted. Involuntary movements occur in most patients, which can lead to bullying and teasing, especially in children.

In some cases, the jaw muscles are also affected and cannot be moved properly. The lack of a pronounced swallowing reflex also leads to an uncontrolled flow of saliva. In addition, food intake is disrupted by Foix-Chavany-Marie syndrome, so treatment is primarily aimed at reconstructing food intake and the ability to speak.

In most cases, the treatment is successful without further complications occurring. However, the malformations cannot be completely treated, so that minor speech disorders or swallowing disorders remain. Life expectancy is not reduced by Foix-Chavany-Marie syndrome.

When should you go to the doctor?

Although there is no complete cure for Foix-Chavany-Marie Syndrome, sufferers should always see a doctor as it can help relieve some symptoms. Self-healing does not occur in this disease. A doctor must be consulted if the person concerned suffers from eating disorders or speech disorders.

The reason for these disorders is a lack of control over the respective muscles that are responsible for these processes. Various forms of paralysis on the face or other parts of the body can also indicate Foix-Chavany-Marie syndrome and are always a reason for an examination.

Likewise, an uncontrolled flow of saliva indicates the syndrome. Swallowing is also often difficult for those affected. The muscles are atrophied and cannot be contracted. First and foremost, a pediatrician or a general practitioner can be consulted for Foix-Chavany-Marie syndrome . In the further treatment, however, the use of other specialists is necessary.

Some complaints can be treated with the help of exercises or therapies. Since many relatives and patients also suffer from psychological problems, psychological treatment for Foix-Chavany-Marie syndrome is also advisable. This can usually be done by a psychologist .

Treatment & Therapy

The care of affected patients is chosen depending on the severity of the speech and eating disorder. The aim of the treatment measures is for the patient to be able to eat independently again and to be able to articulate himself in an understandable way. The treatment takes the form of exercises designed to strengthen the affected muscles.

A central role is played by the visual reinforcement of the patient’s efforts. A mirror is used so that the patient can see progress. Writing is also constantly practiced with patients so that the ability to express oneself in writing is maintained. A full recovery is not possible.

Regaining the ability to speak and swallow is also considered unlikely. Nevertheless, successes were also recorded. In this way, artificial nutrition could be dispensed with in patients after therapy.

Outlook & Forecast

In the case of Foix-Chavany-Marie syndrome, complete healing is usually not possible. Even with proper and early treatment, the paralysis cannot be completely removed. If the syndrome is not treated, the patient’s life will be severely restricted and, in most cases, life expectancy will be reduced.

Because treatment can only come in the form of exercises, progression in Foix-Chavany-Marie syndrome is relatively small and slow. Those affected can only act independently again in some areas of life through constant practice. However, they are still dependent on the help of other people in their lives and cannot easily cope with everyday life on their own.

Independent writing can also be encouraged again in Foix-Chavany-Marie syndrome. In many cases, artificial nutrition can be dispensed with as a result of the therapy, so that the person concerned can eat and drink independently again. There are no other treatment options for Foix-Chavany-Marie syndrome.

In many cases, the syndrome also leads to psychological problems or depression , so that psychological counseling is also necessary. The patient’s relatives are often affected as well.

prevention

Specific ways to prevent Foix-Chavany-Marie syndrome are currently unknown. The prevention of damage to the cerebral cortex can serve as the only approach. Preventative measures to prevent diseases that promote the syndrome or occur parallel to it are also helpful.

aftercare

The severity of the Foix-Chavany-Marie syndrome requires permanent care, as it involves serious damage to the cerebral cortex. As a result, paralysis of the facial muscles as well as the chewing and swallowing muscles occurs on both sides. Although this damage can be mitigated with medical measures, it cannot be eliminated.

Foix-Chavany-Marie syndrome, which occurs rarely, requires monitoring by a neurologist. It can be congenital or occur as a result of neurological diseases. For example, several severe strokes, epilepsies or craniocerebral trauma come into question. The treatment as well as the aftercare of Foix-Chavany-Marie syndrome are largely based on the main problem.

So far, only 150 cases of Foix-Chavany-Marie syndrome are known. Therefore, only a few specialists know about this syndrome. This makes treatment and aftercare equally difficult. Damage to the cerebral cortex is also known as aciopharyngoglossomasticatory diplegia and bilateral anterior operculum syndrome (AOS). Rarely, Foix-Chavany-Marie syndrome resolves in children with epilepsy.

In most cases, lifelong treatment, multiple hospital visits, and intensive follow-up care are required. The serious underlying disease is one reason for this. However, other disorders often occur as a result of the Foix-Chavany-Marie syndrome. Worster-Drought syndrome or polymicrogyria can also occur, for example.

Follow-up care can improve quality of life. Survival time is not affected by Foix-Chavany-Marie syndrome except by the severity of the underlying disease.

You can do that yourself

In the case of Foix-Chavany-Marie syndrome, the particular challenge is to achieve a good quality of life with the symptoms of the disease. Maintaining an optimistic mindset is conducive to health.

Due to the numerous impairments, it is important to find a way of communicating and exchanging ideas with family members, friends or your partner. Techniques such as sign language or sign language are helpful. With various technologies, there is a possibility of successful communication in everyday life, which contributes to an improvement in the quality of life.

Despite the eating disorders, it is important to ensure that you have an adequate and balanced diet . This should contain all vital nutrients so that an undersupply of the organism can be ruled out. It is therefore advisable to optimize the meals, which should be worked out in cooperation with the doctor. Social exchange is important to improve well-being. Contacts with other people should be encouraged by relatives. In addition, recreational activities should be geared to the patient’s possibilities.

The promotion of joie de vivre can also be implemented with the Foix-Chavany-Marie syndrome. At the same time, close relatives are called upon to make sufficient effort to look after their own needs. In addition to caring for or caring for the patient, they also need help in dealing with the situation and should pay sufficient attention to their own well-being.

Lisa Newlon
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Hello! I am Lisa Newlon, and I am a medical writer and researcher with over 10 years of experience in the healthcare industry. I have a Master’s degree in Medicine, and my deep understanding of medical terminology, practices, and procedures has made me a trusted source of information in the medical world.