The Foix-Chavany-Marie syndrome is a 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. Although therapy can improve the patient’s condition, full recovery is not possible.
What is Foix-Chavany-Marie Syndrome?
According to HOWSMB.COM, Foix-Chavany-Marie syndrome is a rare, neurologically caused 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 the discoverers Charles Foix, Jean AE Chavany and Julien Marie. The terms faciopharyngoglossomasticatory diplegia and bilateral anterior operculum syndrome (AOS) are other names for the same disorder. The 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 skills. In the ICD-10 classification, it is listed under the abbreviation G12.2 as a motor neuron disease.
Causes
Two-sided damage to the cerebral cortex in the central region of the brain is the cause of Foix-Chavany-Marie syndrome. The cranial nerves V, VII, IX, X, XII are particularly affected. Their dysfunction is what causes symptoms in affected patients. The damage to the cerebral cortex can either be congenital or result from other medical problems.
Age has no influence on the onset of the disease. Although familial cases have already been described, the syndrome cannot be assumed to be hereditary. Unless the Foix-Chavany-Marie syndrome is caused by a congenital deformity, it can also be due to other diseases such as encephalitis, seizures such as epilepsy, head trauma or a stroke.
In the course of an illness as a consequence 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 the onset 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, paralysis of the facial, chewing and swallowing muscles occurs on both sides. This paralysis results in patients suffering from speech difficulties and eating disorders. The reason for this is the lack of control over the muscles required.
Emotional impulses are exempt from paralysis. People affected by Foix-Chavany-Marie syndrome can still smile or cry. Just 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. Due to the open mouth and the dysfunction, there is uncontrolled flow of saliva. Exceptions are cases in which the swallowing reflex is sufficient.
The muscular dysfunction is also the reason why most patients are silent. The tongue, for example, is almost immobile, although there is no muscular atrophy or fibrillation. An increased jaw reflex can occasionally lead to trismus.
Diagnosis & course
Foix-Chavany-Marie syndrome can be suspected by history or clinical findings. Certain concomitant diseases that often occur together with the syndrome serve as a guide. This includes all syndromes that are associated with bulbar paralysis.
In children, motor development disorders or epilepsy-like seizures are considered signs. Foix-Chavany-Marie syndrome often occurs together with polymicrogyria or Worster-Drought syndrome. An actual bilateral damage to the cerebral cortex can be proven by magnetic resonance imaging or an MRI.
In total, those affected are divided into five patient groups. The classification is based on the applicable causes for the disease. The course of the disease takes place in an inpatient and intermittent manner. Reversible disease development is also conceivable. Especially if the syndrome occurs as a disease accompanying epilepsy in childhood.
In general, the Foix-Chavany-Marie syndrome has no influence on life expectancy, but only restricts the quality of life. Patients can fall 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 easily 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. Most patients experience involuntary movements that can lead to bullying and teasing, especially in children.
In some cases, the jaw muscles are also affected and cannot move properly. The lack of a pronounced swallowing reflex also leads to an uncontrolled flow of saliva. In addition, food intake is disturbed by Foix-Chavany-Marie syndrome, so that treatment is primarily aimed at reconstructing food intake and language skills.
In most cases, the treatment will be successful without further complications. 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 a complete cure of Foix-Chavany-Marie syndrome is not possible, sufferers should always see a doctor as this may relieve some symptoms. Self-healing does not occur with this disease. A doctor must then be seen if the person suffers from eating disorders or speech disorders.
The reason for these disorders is a lack of control over the muscles that are responsible for these processes. Various paralysis of the face or other parts of the body can also indicate Foix-Chavany-Marie syndrome and are always an occasion for an examination.
An uncontrolled flow of saliva also indicates the syndrome. Swallowing is also often difficult for those affected. The muscles are regressed and cannot be tensed. First and foremost, a pediatrician or general practitioner can be seen in the case of Foix-Chavany-Marie syndrome. For 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 complaints, psychological treatment for Foix-Chavany-Marie syndrome is also advisable. This can usually be carried out by a psychologist.
Treatment & Therapy
The care of affected patients is chosen depending on the severity of the language and eating disorder. The aim of the treatment measures is that the patient can sometimes take up food independently again and can articulate himself in an understandable manner. The treatment takes the form of exercises that are intended to strengthen the affected muscles.
The visual reinforcement of efforts on the part of the patient plays a central role in this. A mirror is used so that the patient can see progress. Writing is also constantly practiced with patients in order to maintain the ability to express themselves in writing. 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 it was possible to dispense with artificial nutrition in patients after therapy.
Outlook & forecast
In the case of Foix-Chavany-Marie syndrome, there is usually no complete cure. Even with correct and timely treatment, the paralysis cannot be completely removed. If the syndrome is not treated, there will be considerable restrictions in the patient’s life and, in most cases, also a reduced life expectancy.
Since treatment can only be in the form of exercises, progress in Foix-Chavany-Marie syndrome is relatively small and slow. Those affected can only act independently again in some areas of life through constant exercises. 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 with Foix-Chavany-Marie syndrome. In many cases, the therapy means that artificial nutrition can be dispensed with, so that the person affected can eat and drink independently again. No other treatment options are available for Foix-Chavany-Marie syndrome.
In many cases, the syndrome also leads to psychological complaints or depression, so that psychological counseling is also necessary. The relatives of the patient are often also affected.
Prevention
Specific options for preventing Foix-Chavany-Marie syndrome are currently not known. The only approach that can be used is the prevention of damage to the cerebral cortex. Preventive measures to prevent diseases that favor the syndrome or occur in parallel are also helpful.
Aftercare
The severity of the Foix-Chavany-Marie syndrome requires permanent care, as it is a 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. Medical measures can alleviate this damage, but not remedy it.
The rarely occurring Foix-Chavany-Marie syndrome requires surveillance by a neurologist. It can be congenital or as a result of neurological disorders. For example, several severe strokes, epilepsy or traumatic brain injuries are possible. Treatment and follow-up for Foix-Chavany-Marie syndrome largely depend on the main problem.
So far, only 150 cases of Foix-Chavany-Marie syndrome are known. Therefore, only a few specialists are familiar with this syndrome. This makes treatment and aftercare equally difficult. The damage to the cerebral cortex is also known as aciopharyngoglossomasticatory diplegia and bilateral anterior operculum syndrome (AOS). In rare cases, Foix-Chavany-Marie syndrome resolves in children with epilepsy.
In most cases, lifelong treatment, multiple hospital stays and intensive follow-up measures are necessary. The serious underlying disease is one reason for this. Often, however, other disorders occur as a result of the Foix-Chavany-Marie syndrome. For example, Worster Drought syndrome or polymicrogyria can also occur.
Follow-up care can improve the quality of life. Survival time is not influenced by Foix-Chavany-Marie syndrome, except by the severity of the underlying disease.
You can do that yourself
With Foix-Chavany-Marie syndrome, there is the particular challenge of achieving a good quality of life with the symptoms of the disease. Maintaining an optimistic mindset is beneficial to health.
Due to the numerous impairments, it is important to find a way of communicating and exchanging ideas with family members, friends or the partner. Techniques such as sign language are helpful. With various technologies there is the possibility of successful communication in everyday life, which contributes to an improvement in the quality of life.
Despite the eating disorders, a sufficient and balanced diet should be ensured. This should contain all essential nutrients so that an undersupply of the organism can be excluded. It is therefore advisable to optimize the meals, which should be worked out in cooperation with the doctor. Social exchange is important to improve wellbeing. Relatives should encourage contact with other people. In addition, leisure activities should be geared towards the patient’s capabilities.
The promotion of the joy of life can also be implemented with the Foix-Chavany-Marie syndrome. At the same time, the close relatives are asked to take sufficient care of their own needs. In addition to caring for or looking after the patient, they also need help in dealing with the situation and should take sufficient care of their own well-being.
