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Questions about rare diseases?
Questions about rare diseases?
Disease Information
Summary
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.
Summary
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.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.
Resource(s) for Medical Professionals and Scientists on This Disease:
This section is currently in development.
About Foix chavany Marie syndrome
Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:
- Population Estimate:Fewer than 1,000 people in the U.S. have thisdisease.
- Symptoms:May start to appear at any time in life.
- Cause:GARD does not currently have information about the cause of this disease.
- Organizations:Contact GARD Information Specialist to help search for patient organizations dedicated to this rare disease.
- Categories:Neurologicaldiseases
Causes
GARD does not currently have information about the cause of this disease.
When Do Symptoms of Foix chavany Marie syndrome Begin?
Symptoms of this disease may start to appear at any time in life.
The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms of some diseases may begin at any age. Knowing when symptoms may have appeared can help medical providers find the correct diagnosis.
The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms of some diseases may begin at any age. Knowing when symptoms may have appeared can help medical providers find the correct diagnosis.
Prenatal Selected
Before Birth
Newborn Selected
Birth-4 weeks
Infant Selected
1-23 months
Child Selected
2-11 years
Adolescent Selected
12-18 years
Adult Selected
19-65 years
Older Adult Selected
65+ years
Symptoms may start to appear at any time in life.
Symptoms
The types of symptoms experienced, and their intensity, may vary among people with this disease. Your experience may be different from others. Consult your health care team for more information.
The following describes the symptom(s) associated with this disease along with the corresponding body system(s), description, synonyms, and frequency (Note: Not all possible symptoms may be listed):
The following describes the symptom(s) associated with this disease along with the corresponding body system(s), description, synonyms, and frequency (Note: Not all possible symptoms may be listed):
Musculoskeletal System Musculoskeletal System
7 Symptoms
7 Symptoms
Musculoskeletal System
The musculoskeletal system is made up of the bones, muscles, and joints. Common symptoms of problems in the musculoskeletal system include pain, weakness, stiffness, noises in the joints, inflammation, and decreased range of motion. Diseases affecting the musculoskeletal system may be diagnosed and treated by an orthopedist, rheumatologist, or neuromuscular specialist.
7 Symptoms
Diagnostic Journey
- Find disease-specific information to discuss with your healthcare providers.
- Ask for diagnostic tests.
- Request referrals to specialists.
Knowing where to start your diagnostic journey and how to navigate the next steps are critical to speeding your time to diagnosis
Your Diagnostic Team
How can a diagnostic team help?
Establishing care with a dedicated primary care provider (PCP) is an important early step in your rare disease journey. A PCP can help improve care and shorten the time to diagnosis by providing referrals to the appropriate specialists. These specialists, with advanced training in different body systems or types of diseases, can offer the specialized diagnostic procedures you need.
Use this tool by Medicare to find a PCP in your area by inputting your location and keyword "Primary Care Provider."
A PCP that specializes in the care of children is called a pediatrician. Use this tool by the American Academy of Pediatrics to find a pediatrician in your area by inputting your location.
Diagnostic teams for Foix chavany Marie syndrome may include:
Multidisciplinary Care Centers
Is it time to find a multidisciplinary care center?
If you've visited your PCP, met with specialists, and undergone the recommended tests, but still do not have a confirmed diagnosis, it may be time to visit a multidisciplinary care center. Multidisciplinary care centers are usually teaching, university, or research hospitals that have teams of medical experts and specialists working together in the same location. This means a wide range of diagnostic tests and clinical knowledge are available at one facility, which can help increase communication and collaboration among your care team. The additional resources often available at multidisciplinary centers may help speed the time to diagnosis for rare diseases.
Use this tool to find hospitals that may partner with medical schools and programs in your area.
Some multidisciplinary care centers focus on the care and treatment of children. Use this tool to find children's multidisciplinary care centers by searching for university or research hospitals in your area.
Multidisciplinary Care Centers
Is it time to find a multidisciplinary care center?
If you've visited your PCP, met with specialists, and undergone the recommended tests, but still do not have a confirmed diagnosis, it may be time to visit a multidisciplinary care center. Multidisciplinary care centers are usually teaching, university, or research hospitals that have teams of medical experts and specialists working together in the same location. This means a wide range of diagnostic tests and clinical knowledge are available at one facility, which can help increase communication and collaboration among your care team. The additional resources often available at multidisciplinary centers may help speed the time to diagnosis for rare diseases.
Use this tool to find hospitals that may partner with medical schools and programs in your area.
Some multidisciplinary care centers focus on the care and treatment of children. Use this tool to find children's multidisciplinary care centers by searching for university or research hospitals in your area.
Rare Disease Experts
How can you find a rare disease expert?
If a diagnosis remains unknown despite extensive efforts by your PCP and specialists, it can be challenging to know what kind of expert you may need or where to find one. A rare disease expert is a care provider that has knowledge or training on specific disease(s), but there may only be a few experts in your state, region, or country. Rare disease experts may work at large research or teaching hospitals. In complex cases, coordinating with a network of experts can help your care provider find the right diagnosis.
Contact a GARD Information Specialist for help finding an expert.
You can ask your care providers for help finding an expert or use directory tools to search for experts near you. The National Organization for Rare Disorders (NORD) maintains a list of rare disease centers with experts that work together to find treatments and cures for a broad range of rare diseases. Search NORD's Center Directory to find experts near you.
Rare Disease Experts
How can you find a rare disease expert?
If a diagnosis remains unknown despite extensive efforts by your PCP and specialists, it can be challenging to know what kind of expert you may need or where to find one. A rare disease expert is a care provider that has knowledge or training on specific disease(s), but there may only be a few experts in your state, region, or country. Rare disease experts may work at large research or teaching hospitals. In complex cases, coordinating with a network of experts can help your care provider find the right diagnosis.
Contact a GARD Information Specialist for help finding an expert.
You can ask your care providers for help finding an expert or use directory tools to search for experts near you. The National Organization for Rare Disorders (NORD) maintains a list of rare disease centers with experts that work together to find treatments and cures for a broad range of rare diseases. Search NORD's Center Directory to find experts near you.
Find Your Community
How Can Patient Organizations Help?
Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.
Services of patient organizations differ, but may include:
- Ways to connect to others and share personal stories
- Easy-to-read information
- Up-to-date treatment and research information
- Patient registries
- Lists of specialists or specialty centers
- Financial aid and travel resources
Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Contact a GARD Information Specialist for more information on organizations that may be dedicated to this disease. Please contact an organization directly if you have questions about the information or resources it provides.
View GARD's criteria for including patient organizations, which can be found under the FAQs on our About GARD page. Request an update or to have your organization added to GARD.
Patient Organizations
4 Organizations
Organization Name
Who They Serve
Helpful Links
Country
Participate in Research
Clinical studies are a part of clinical research and play an important role in medical advances for rare diseases. Through clinical studies, researchers may ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.
What Are Clinical Studies?
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
- Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
- Observational studies involve recording changes over time among a specific group of people in their natural settings.
Why Participate in Clinical Studies?
People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or a similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.
To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
What if There Are No Available Clinical Studies?
ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.
Join the All of Us Research Program!
The All of Us Research Program is inviting 1 million people from all backgrounds across the U.S. to help build one of the most diverse health databases in history. Researchers will use the data to learn how our biology, lifestyle, and environment affect health. This may one day help them find ways to treat and prevent diseases.
What Are Clinical Studies?
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
- Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
- Observational studies involve recording changes over time among a specific group of people in their natural settings.
Why Participate in Clinical Studies?
People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or a similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.
To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
What if There Are No Available Clinical Studies?
ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.
Join the All of Us Research Program!
The All of Us Research Program is inviting 1 million people from all backgrounds across the U.S. to help build one of the most diverse health databases in history. Researchers will use the data to learn how our biology, lifestyle, and environment affect health. This may one day help them find ways to treat and prevent diseases.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
GARDGenetic and Rare Diseases
Information Center
Information Center
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies.
Available Monday through Friday 12 p.m. to 6 p.m. Eastern Time
(Except: Federal Holidays)
(Except: Federal Holidays)
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
GARDGenetic and Rare Diseases
Information Center
Information Center
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies.
Use the contact form to send your questions to a GARD Information Specialist.
Please allow 2 to 10 business days for us to respond.
Please allow 2 to 10 business days for us to respond.
GARD collects data from a variety of sources to populate its website and provide accurate and reliable information on rare diseases.
GARD uses data collected from Orphanet, Online Mendelian Inheritance in Man (OMIM) , and Mondo Disease Ontology to interpret and provide information on rare diseases. This includes names, synonyms, genes, symptom frequency, population estimates and more.
- Orphanet is an online database of rare diseases and orphan drugs that provides aggregated data coordinated by INSERM-US14 in Paris.
- OMIM is a database of human genes and genetic phenotypes authored and edited at the McKusick-Nathans Institute of Genetic Medicine , Johns Hopkins University School of Medicine.
- Mondo Disease Ontology provides a logic-based structure unifying multiple disease resources in coordination with the Human Phenotype Ontology (HPO) and support from the NIH National Human Genome Research Institute Phenomics First Resource.
GARD uses the Human Phenotype Ontology (HPO) for standard terminology to represent a disease's phenotypic and clinical features.
GARD uses information gathered from the National Center for Biotechnology Information's MedGen to help in explaining genetic and rare diseases.
GARD uses the National Library of Medicine for a variety of resources on health information.
- Learn about the Newborn Screening Coding and Terminology Guide
- Find health information from MedlinePlus
- Learn about the Unified Medical Language System
GARD uses additional resources when developing content.
Last Updated: February 2025