What is TomÚ-Brunet-Fardeau syndrome?
TomÚ-Brunet-Fardeau syndrome does not yet have FDA-approved treatments tracked on UniteRare.
Key symptoms:
Muscle weakness in the arms and legsLoss of muscle bulk (muscle wasting)Reduced or absent reflexesNumbness or tingling in the hands and feetDifficulty walking or unsteady gaitJoint stiffness or contracturesFoot deformities such as high arches or curled toesFatigue with physical activityDifficulty with fine motor tasks like buttoning clothesProgressive loss of strength over time
- Inheritance
- Autosomal recessive
- Passed on when both parents carry the same gene change; often skips generations
- Age of Onset
- Variable
- Can begin at different ages, from infancy through adulthood
Treatments
Source: openFDA + DailyMed · NDA / BLA labels with structured indications · refreshed weekly
No FDA-approved treatments are currently listed for TomÚ-Brunet-Fardeau syndrome.
View clinical trials →Clinical Trials
View all trials with filters →Source: ClinicalTrials.gov · synced daily · phases, status, and PI names normalized at ingest
No actively recruiting trials found for TomÚ-Brunet-Fardeau syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →Source: NPI Registry + PubMed · trial PI roles cross-referenced with ClinicalTrials.gov · ranked by match score (publications + PI activity + community signal)
No specialists are currently listed for TomÚ-Brunet-Fardeau syndrome.
Treatment Centers
8 centersSource: NORD Rare Disease Centers + NIH Undiagnosed Diseases Network (UDN) · centers verified active within last 12 months
Children's Hospital Colorado Rare Disease Program ↗
Children's Hospital Colorado
📍 Aurora, CO
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDBoston Children's Hospital Rare Disease Program ↗
Boston Children's Hospital
📍 Boston, MA
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
🏨 Children'sAnn & Robert H. Lurie Children's Hospital Genetics ↗
Lurie Children's Hospital
📍 Chicago, IL
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDCincinnati Children's Hospital Medical Center ↗
Cincinnati Children's
📍 Cincinnati, OH
👤 Boston Children's Hospital Rare Disease Program
🏨 Children'sNationwide Children's Hospital Rare Disease Center ↗
Nationwide Children's Hospital
📍 Columbus, OH
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
Travel Grants
No travel grants are currently matched to TomÚ-Brunet-Fardeau syndrome.
Community
No community posts yet. Be the first to share your experience with TomÚ-Brunet-Fardeau syndrome.
Start the conversation →Latest news about TomÚ-Brunet-Fardeau syndrome
Source: PubMed + NIH RePORTER + openFDA + clinical-journal RSS · last 30 days · disease-tagged at ingest by AI extraction with human QC
No recent news articles for TomÚ-Brunet-Fardeau syndrome.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific tests will help confirm the diagnosis?,How quickly might symptoms progress in my case or my child's case?,What physical therapy or rehabilitation program do you recommend?,Should we pursue genetic testing, and what might it tell us?,Are there any clinical trials or research studies we could participate in?,What signs should prompt us to seek urgent medical attention?,How often should follow-up appointments be scheduled?
Common questions about TomÚ-Brunet-Fardeau syndrome
What is TomÚ-Brunet-Fardeau syndrome?
Tomé-Brunet-Fardeau syndrome is an extremely rare inherited condition that primarily affects the muscles and nervous system. It was first described in the medical literature and is characterized by a combination of muscle weakness (myopathy) and nerve damage (neuropathy), which together can cause progressive difficulty with movement and daily activities. Patients may experience weakness in the arms and legs, reduced muscle bulk, and problems with sensation or reflexes due to involvement of the peripheral nerves. The condition may also be associated with additional features such as joint contra
How is TomÚ-Brunet-Fardeau syndrome inherited?
TomÚ-Brunet-Fardeau syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Frequently asked questions about TomÚ-Brunet-Fardeau syndrome
Auto-generated from canonical disease facts (Orphanet, OMIM, ClinicalTrials.gov, openFDA, NPPES). Not a substitute for clinical guidance.
What is TomÚ-Brunet-Fardeau syndrome?
TomÚ-Brunet-Fardeau syndrome is a rare disease catalogued in international rare-disease ontologies (Orphanet ORPHA:3336). It is typically inherited as autosomal recessive. Age of onset is generally variable. For verified primary sources, see the UniteRare TomÚ-Brunet-Fardeau syndrome page.
How is TomÚ-Brunet-Fardeau syndrome inherited?
TomÚ-Brunet-Fardeau syndrome follows autosomal recessive inheritance. Genetic counseling is recommended for affected families to understand recurrence risk in offspring and the likelihood of unaffected siblings being carriers. Variants in the underlying gene(s) may be identified via clinical genetic testing.
Are there FDA-approved treatments for TomÚ-Brunet-Fardeau syndrome?
Approved treatments for TomÚ-Brunet-Fardeau syndrome are tracked from openFDA and DailyMed primary sources. Many rare diseases have no specific FDA-approved therapy; for those, supportive care and management of complications form the basis of clinical care. Orphan-drug-designation status is noted where applicable.
Are there clinical trials for TomÚ-Brunet-Fardeau syndrome?
Active clinical trials for TomÚ-Brunet-Fardeau syndrome are tracked daily from ClinicalTrials.gov. Trial availability changes frequently; check the UniteRare trial listings for the current count and recruitment status. Sponsors of rare-disease research often welcome inquiries even when a trial is not actively recruiting at a given moment.
How do I find a specialist for TomÚ-Brunet-Fardeau syndrome?
Verified TomÚ-Brunet-Fardeau syndrome specialists are identified through ClinicalTrials.gov principal-investigator records, peer-reviewed publication authorship (via PubMed), and the NPPES NPI registry. NORD-designated Centers of Excellence and NIH-affiliated rare-disease clinics are also tracked. UniteRare's specialist directory is updated continuously as new evidence becomes available.
See full TomÚ-Brunet-Fardeau syndrome page for complete clinical details, sources, and verified-specialist listings.
Cite this page
Select a citation format above to view and copy.