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 results in speech and eating disorders. Therapy can improve the patient’s condition, but complete recovery is not possible.
What is Foix-Chavany-Marie syndrome?
Foix-Chavany-Marie syndrome is the name given to a rare syndrome caused by neurological conditions. There is less than one patient with the syndrome for every million patients. Thus, only about 150 affected patients have been logged to date. The disorder received its name in reference to its discoverers Charles Foix, Jean A.E. Chavany, and Julien Marie. The terms faciopharyngoglossomasticatory diplegia and bilateral anterior operculum syndrome (AOS) are other names for the same disorder. Foix-Chavany-Marie syndrome is the effect of bilateral damage to the cerebral cortex, or operculum. It results in patients having no control over their facial, swallowing and masticatory muscles. Accordingly, it is referred to as dissociation of voluntary motor function. In the ICD-10 classification, it is listed as motor neuron disease under the abbreviation G12.2.
Causes
Bilateral 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 dysfunctions are the reason for the symptoms of affected patients. Damage to the cerebral cortex can be either 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 Foix-Chavany-Marie syndrome is caused by a congenital malformation, it may also be due to other conditions such as encephalitis, seizures as in epilepsy, head trauma, or stroke. In the course of disease secondary to stroke, no case has yet been documented in which Foix-Chavany-Marie syndrome occurred after the first stroke. To date, at least two or three strokes have always been assumed. When sudden onset occurs in adulthood, vascular changes are often the cause of damage to the cerebral cortex. In rare cases, sudden onset may also be caused by brain tumors.
Symptoms, complaints, and signs
In the course of disease, 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. Emotional movements are excluded from the paralysis. Thus, people affected by Foix-Chavany-Marie syndrome can still smile or cry. Only planned use of the muscles is not possible for them. Patients with this syndrome have a mostly toneless face. The mouth is open a crack and cannot be closed under its own power. Due to the open mouth and dysfunction, uncontrolled salivation occurs. Exceptions are cases in which the swallowing reflex is sufficient. The muscular dysfunctions are also the reason why most patients are mute. For example, the tongue is almost immobile, although there is no muscular atrophy or fibrillation. Increased jaw reflex may occasionally cause trismus.
Diagnosis and course
History or clinical findings may establish a suspicion of Foix-Chavany-Marie syndrome. Certain concomitant diseases that often occur together with the syndrome serve as clues. These include all syndromes associated with bulbar paralysis. In children, motor development disorders or epilepsy-like seizures are considered signs. Likewise, Foix-Chavany-Marie syndrome often occurs together with polymicrogyria or Worster-Drought syndrome. Actual bilateral damage to the cerebral cortex can be demonstrated by MRI or magnetic resonance imaging. In total, affected patients are divided into five patient groups. The classification is based on the respective causes of the disease. The course of the disease is stationary and intermittent. Reversible disease development is also conceivable.Especially if the syndrome occurs in childhood as a concomitant disease to epilepsy. In general, Foix-Chavany-Marie syndrome does not affect life expectancy, but only limits quality of life. For example, patients may become mute or lose the ability to eat independently. Since the affected brain center is also responsible for writing ability, this can also be affected in some cases.
Complications
Foix-Chavany-Marie syndrome severely limits motor skills in particular. However, the effects of the syndrome are different in all patients. In most cases, limitations occur in the facial muscles. As a result, certain natural movements, such as laughing, are not readily possible. Foix-Chavany-Marie syndrome can also cause dysphagia, so that affected individuals 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 move properly. The failure to develop the swallowing reflex also results in uncontrolled salivation. In addition, food intake is disturbed by Foix-Chavany-Marie syndrome, so treatment is primarily aimed at reconstructing food intake and speech. In most cases, treatment is successful without further complications. However, the malformations cannot be completely treated, so minor speech disorders or swallowing difficulties remain. Foix-Chavany-Marie syndrome does not reduce life expectancy.
When should you see a doctor?
Although a complete cure for Foix-Chavany-Marie syndrome is not possible, affected individuals should still always see a doctor, as this may relieve some symptoms. Self-cure does not occur with this condition. A doctor must be consulted if the affected person 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 paralyses of the face or other parts of the body can also indicate Foix-Chavany-Marie syndrome and are always a reason for an examination. Likewise, uncontrolled salivation is indicative of the syndrome. Swallowing is also often difficult for those affected. The muscles are degenerated and cannot be tensed. In the first instance, a pediatrician or general practitioner can be consulted for Foix-Chavany-Marie syndrome. However, further treatment requires the involvement of other specialists. 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 done with a psychologist.
Treatment and therapy
The care of affected patients is chosen according to the severity of the speech and eating disorder. The goal of the treatment measures is for the patient to be able to partially resume eating independently and to articulate himself intelligibly. The treatment takes the form of exercises designed to strengthen the affected muscles. Visual reinforcement of the patient’s efforts plays a central role. For example, a mirror is used so that the patient can see progress. Writing is also constantly practiced with patients so that the ability to express themselves in writing is maintained. Complete recovery is not possible. Regaining the ability to speak and swallow is also considered unlikely. Nevertheless, successes have also been recorded. For example, patients have been able to avoid artificial feeding after therapy.
Outlook and prognosis
Foix-Chavany-Marie syndrome usually does not result in complete recovery. Even with proper and early treatment, the paralysis cannot be completely removed. If the syndrome is not treated, there will be significant limitations in the patient’s life and, in most cases, a reduced life expectancy. Because treatment can only take the form of exercise, progress in Foix-Chavany-Marie syndrome is relatively slow.Only through permanent exercises can the affected persons act independently again in some areas of life. However, they are still dependent on the help of other people in their lives and cannot easily cope with complete everyday life on their own. Independent writing can also be encouraged again in Foix-Chavany-Marie syndrome. In many cases, therapy can eliminate the need for artificial feeding, allowing the affected person to 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. This often involves the patient’s family members as well.
Prevention
Specific ways to prevent Foix-Chavany-Marie syndrome are currently unknown. Prevention of damage to the cerebral cortex may serve as the only approach. Preventive measures to prevent diseases that favor or parallel the syndrome are also helpful.
Follow-up
The severity of Foix-Chavany-Marie syndrome requires ongoing care because it is a serious cerebral cortex injury. As a result, paralysis of the facial muscles and the chewing and swallowing muscles occurs on both sides. Medical measures can mitigate this damage, but not correct it. Foix-Chavany-Marie syndrome, which occurs rarely, requires monitoring by a neurologist. It may be congenital or occur as a result of neurological disease. Examples include multiple severe strokes, epilepsies, or traumatic brain injury. Treatment as well as follow-up of Foix-Chavany-Marie syndrome are largely based on the main problem. To date, only 150 cases of Foix-Chavany-Marie syndrome have been reported. Therefore, only a few specialists are familiar with this syndrome. This makes treatment and follow-up 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 regresses in children with epilepsy. In most cases, lifelong treatment, multiple hospitalizations, and intensive follow-up are required. The severe underlying disease is one reason for this. However, other disorders often occur as a result of Foix-Chavany-Marie syndrome. For example, Worster-Drought syndrome or polymicrogyria may occur in addition. Follow-up care can improve quality of life. Survival is not affected by Foix-Chavany-Marie syndrome except by the severity of the precipitating underlying disease.
Here’s what you can do yourself
With 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 good health. Because of the many impairments, it is important to find a way to communicate and interact with family members, friends or a partner. Techniques such as sign or 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 eating disorders, care should be taken to ensure a sufficient and balanced diet. This should contain all vital nutrients, so that an undersupply of the organism can be excluded. Therefore, it is recommended to optimize the meals, which should be worked out in cooperation with the doctor. To improve the well-being, social exchange is important. Contacts with other people should be encouraged by relatives. In addition, leisure activities should be geared to the patient’s possibilities. The promotion of joie de vivre is also feasible with Foix-Chavany-Marie syndrome. At the same time, close relatives are encouraged to make sufficient efforts to meet their own needs. In addition to caring for or looking after the patient, they also need help in dealing with the situation and should pay sufficient attention to their own well-being.
