Foix-Chavany-Marie syndrome (ORPHA:2048)
A rare cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved.
Epidemiology
Less than 150 cases have been described in the literature so far.
Clinical description
Foix-Chavany-Marie syndrome (FCMS) can occur at any age and patients present with acute-onset bilateral paresis of the facial, lingual, pharyngeal and masticatory muscles (innervated by the V, VII, IX, X and XII cranial nerves). However, the reflexive, emotional and automatic innervations of these muscles are preserved and smiling, crying or yawning under natural circumstances is possible. Facial appearance is atonic and the mouth is half open. Patients with FCMS have severe speech disturbances and most are mute. Chewing and swallowing are severely impaired. The oral stage of swallowing is severely disturbed in most patients, but the swallowing reflex can be adequate if the bolus is delivered into the pharynx. The tongue is almost immobile and does not show muscular atrophy and fibrillation. The jaw reflex is exaggerated (sometimes leading to trismus). In children, FCMS is usually associated with delayed psychomotor milestones and epilepsy.
Etiology
FCMS is caused by developmental or acquired bilateral lesions of the anterior opercula. In children, it presents congenitally (bilateral opercular polymicrogyria) or as an acquired disorder due to encephalitis, epilepsy and neurodegenerative disorders. The syndrome is generally sporadic but some familial cases have been described. In adults, FCMS is associated with vascular events (generally ischemic), infections of the central nervous system, neoplasms, trauma and epileptic disorders.
Diagnostic methods
Diagnosis is based on patient history, clinical examination and magnetic resonance imaging (showing bilateral opercular lesions).
Differential diagnosis
Differential diagnoses include syndromes that present with bulbar palsy (amyotrophic lateral sclerosis, myasthenia gravis and Brown-Vialetto-van Laere syndrome; see these terms). Clinical overlap of FCMS with congenital bilateral perisylvian polymicrogyria and Worster-Drought syndrome (see these terms) has been noted, suggesting a possible continuum of these conditions.
Management and treatment
Management depends on the degree of feeding difficulties and speech problems, and requires a multidisciplinary therapeutic approach. It aims at improving the patient's ability to return to oral feeding. Early percutaneous endoscopic gastrostomy and use of modified feeding techniques and postures may be of benefit.
Prognosis
The disease may have a persistent or intermittent course. Reversible forms have also been described. The prognosis for life expectancy is usually good, but usually patients do not recover voluntary swallowing and speech ability.

                            Last update: 
                            October 2009


                            - Expert reviewer(s): 
                            Pr Jaime CAMPOS-CASTELLÓ