Introduction

Clinical Information

Core Characteristics

• Etiology: Infarction
• Pathology: Variable
• Rarity Classification: Ultra-Orphan
• Typical Onset: Any Age
• Gender Impact: Either Gender
• Seizure Prevalence: Variable (Subtype)
• Population Trend: Unknown

Pathophysiology

Ideopathic cerebral lesion growth

AAC Considerations

Additional Clinical Notes

Facial paralysis secondary to poor brain oxygenation secondary to multiple possible pathologies

Quick Reference

| Metric | Value | |--------|-------| | Incidence | Unknown (ultra-rare, <150 cases in literature) | | Prevalence | Rare (<40 cases from ischemic stroke) | | Age of Onset | Variable (acquired, typically adult onset) | | AT Required | Nearly 100% require AAC due to severe dysarthria and dysphagia |

Foix-Chavany-Marie Syndrome

Demographic Information

• Incidence: Rare, with fewer than 1,000 cases reported globally.
• Prevalence: Extremely rare, exact prevalence unknown.
• Gender: Affects both males and females equally.
• Onset Age: Can present at any age, from childhood to adulthood.

Coding

• ICD-11: 8A82.1
• ICD-10-CM: G12.29
• OMIM: 304020
• UMLS: C0268463
• MeSH: Not specifically coded
• GARD: 7346

Medical Features and Pathophysiology

• Etiology: Foix-Chavany-Marie Syndrome (FCMS) is caused by bilateral lesions in the anterior opercular region of the brain. These lesions typically result from strokes, infections, traumatic brain injury, or neurodegenerative diseases. The syndrome is characterized by damage to cranial nerves V (trigeminal), VII (facial), IX (glossopharyngeal), X (vagus), and XII (hypoglossal), which leads to both motor and sensory deficits in the face, pharynx, and jaw.
• Pathology: FCMS presents with severe dysarthria and dysphagia due to the paralysis of masticatory, facial, pharyngeal, and lingual muscles. This paralysis occurs alongside preserved automatic movements such as emotional smiling, laughing, and crying, indicating an automatic-voluntary dissociation. The patients typically have a slack jaw, are unable to voluntarily close their mouths, and display pseudo-peripheral bilateral facial paresis. The syndrome also often includes severe speech impairments, with many patients being anarthric or mute but retaining the ability to communicate through writing or gestures.

• Symptoms:

- Speech and Swallowing Impairments: Severe dysarthria, often progressing to complete mutism (anarthria); dysphagia necessitating tube feeding. - Automatic Movements: Preservation of involuntary movements such as emotional expressions and yawning. - Additional Symptoms: Sialorrhea (excessive drooling), hyperactive jaw jerk, absent or depressed gag reflex, and potentially severe developmental delays in congenital cases.

• Diagnosis: Diagnosis is primarily clinical, supported by neuroimaging studies such as MRI and CT scans that reveal bilateral lesions in the anterior opercular region. Differential diagnosis includes conditions such as pseudobulbar palsy, bulbar palsy, Guillain-Barré syndrome, myasthenia gravis, and brainstem strokes.

Assistive Suggestions and Requirements

• Requirement Percentage for Assistive Technology: Nearly 100% of individuals with FCMS require assistive technology due to the severe impairments in speech and swallowing.
• Assistive Technology Suggestions:

- Feeding Aids: Gastrostomy tubes for feeding due to severe dysphagia. - Mobility Aids: Customized wheelchairs and support for those with associated motor impairments.

• Access Modalities:

- Eye-Gaze Technology: Enables control of communication devices through eye movements, ideal for those with severe limb and facial motor deficits. - Touchscreen Devices: Beneficial for those who retain some hand function, allowing them to use AAC apps and other educational tools.

Care Management and Therapeutic Techniques

• Aims:

- Ensure Safe Feeding: Manage dysphagia to prevent aspiration and provide adequate nutrition through alternative feeding methods. - Support Daily Living: Assist with activities of daily living through adaptive equipment and technologies. - Family and Caregiver Support: Provide education, resources, and emotional support to families.

• SLP Suggestions:

- Swallowing Therapy: Implement strategies to improve safe swallowing and reduce the risk of aspiration. - Communication Training: Educate family members and caregivers on effective communication techniques using AAC devices.

• Special Educator Suggestions:

- Inclusive Strategies: Use visual supports, structured routines, and differentiated instruction to create an inclusive educational environment. - Sensory Integration: Incorporate sensory activities to help with sensory processing issues.

• Occupational Therapist Suggestions:

- Motor Skill Development: Implement exercises to improve fine and gross motor skills. - Positioning and Mobility: Ensure proper positioning and support in wheelchairs and other seating systems.

• Recommendations on AAC:

- Text-Based Communication: Provide text-based AAC devices for those who can read and write. - Ongoing Assessment: Regularly reassess communication needs to ensure the AAC system remains effective.

Comprehensive Management and Care Strategies

• Medical Management:

- Infection Control: Monitor and treat any infections promptly, especially those affecting the brain. - Neuroimaging: Regular imaging to monitor the progression of lesions and guide treatment plans.

• Behavioral and Psychological Support:

- Psychological Support: Provide counseling and support groups for individuals and their families. - Reinforcement Strategies: Use positive reinforcement to encourage desired behaviors.

• Therapies and Interventions:

- Occupational Therapy: Assist with daily living skills and sensory processing. - Speech and Language Therapy: Develop communication skills using AAC and non-verbal methods.

• Educational Strategies:

- Inclusion Strategies: Promote inclusion in mainstream classrooms with appropriate supports. - Use of Technology: Integrate technology in education to aid learning and engagement.

• Family and Community Support:

- Respite Care: Provide access to respite care services for caregivers. - Advocacy and Resources: Educate families about available resources and advocacy organizations.

Future Directions and Research

• Genetic Research: Explore genetic mechanisms underlying FCMS for potential treatments.
• Clinical Trials: Encourage participation in clinical trials to discover new therapies.
• Therapeutic Innovations: Develop new therapeutic approaches to improve quality of life.

Comprehensive References

1. MedLink Neurology: Overview of clinical presentation and pathophysiology of Foix-Chavany-Marie Syndrome. MedLink Neurology 2. Radiopaedia: Detailed description of the anatomical and clinical aspects of the syndrome. Radiopaedia 3. Genetic and Rare Diseases Information Center (GARD): Information on symptoms, causes, and diagnosis. GARD 4. CheckOrphan: Comprehensive details on symptoms, causes, and treatment options. CheckOrphan 5. Karger Publishers: Case reports and imaging studies related to Foix-Chavany-Marie Syndrome. Karger

This handout provides an extensive overview of Foix-Chavany-Marie Syndrome, covering essential medical details, assistive technology recommendations, therapeutic interventions, and future research directions. It serves as a valuable resource for clinicians, caregivers, and educators, helping to enhance the quality of life for individuals affected by this rare disorder.

References

Additional Resources

1. , et al. (2013). Foix–Chavany–Marie syndrome after unilateral anterior opercular contusion: A case report. Clinical Neurology and Neurosurgery. https://doi.org/10.1016/j.clineuro.2012.12.036 Link [PDF]

Epidemiology and Demographics

Etiology and Pathophysiology

Clinical Features and Stages

Diagnosis

Clinical Recommendations

Care Management

Transition Planning