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.
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Resource(s) for Medical Professionals and Scientists on This Disease:
Orphanetprovides GARD with information for this disease.
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:GARD is not currently aware of organizations specific to this disease.
Categories:Neurological Diseases
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 from some diseases may begin at any age. Knowing when symptoms began to appear 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, and you should consult your primary care provider (PCP) for more information.
This list does not include all possible symptoms related to this disease, but they may include:
Musculoskeletal System Musculoskeletal System
7 Symptoms
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Body Systems
Symptoms related to this disease may affect different systems of the body. Use the 'Filter and Sort' function to learn more about which body system(s) are affected by this disease and their associated symptom(s).
Medical Term
Abnormal thumb morphology
Frequency
Uncommon
Very frequent
Very frequent
Always
Description
An abnormal structure of the first digit of the hand.
An abnormal structure of the first digit of the hand.
Synonym
Abnormality of the thumb; Abnormality of the thumbs; Thumb deformity
Abnormality of the thumb; Abnormality of the thumbs; Thumb deformity
7 Symptoms
Causes
This section is currently in development.
Advocacy and Support Groups
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. Please contact an organization directly if you have questions about the information or resources it provides.
Clinical studies are part of clinical research and at the heart of all medical advances, including rare diseases. Participating in research helps researchers 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.
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 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.
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 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.
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.
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 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.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 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.
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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 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.
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.
Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. Note, 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.
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.
Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. Note, GARD cannot enroll individuals in clinical studies.
Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.
Data collected from Orphanet and Online Mendelian Inheritance in Man (OMIM) are used to interpret and provide information on rare diseases. This includes names, synonyms, genes, symptom frequency, population estimates and more.
Human Phenotype Ontology (HPO) provides standard terminology that was used by Orphanet and OMIM to represent a disease's phenotypic features. HPO provides information on describing these clinical features.
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