Overview
Nathalie syndrome is an extremely rare inherited condition that affects multiple body systems at the same time. It was first described in a small number of individuals and is named after one of the original patients. The condition is also sometimes referred to in medical literature simply by its Orphanet classification as a rare multiple congenital anomaly syndrome. The syndrome mainly affects the heart, muscles, and the body's ability to hear. People with Nathalie syndrome typically have a heart rhythm problem called a conduction defect, which means the electrical signals that control the heartbeat do not travel through the heart normally. They also tend to have muscle weakness (myopathy) and hearing loss that gets worse over time. Some individuals may also have cataracts, which are cloudy areas in the lens of the eye. Because Nathalie syndrome is so rare, there is very limited information about the best treatments. Care is focused on managing each symptom separately — for example, using a pacemaker for heart rhythm problems, hearing aids for hearing loss, and physical therapy for muscle weakness. There is currently no cure. A team of specialists working together gives patients the best chance of staying as healthy and independent as possible.
Also known as:
Key symptoms:
Abnormal heart rhythm (cardiac conduction defect)Muscle weaknessProgressive hearing lossCataracts (cloudy lens in the eye)Reduced exercise tolerance or easy fatiguePossible muscle wasting over time
Clinical phenotype terms (4)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Nathalie syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Nathalie syndrome at this time.
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Specialists
View all specialists →No specialists are currently listed for Nathalie syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Nathalie syndrome.
Community
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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 tests do I need to confirm the diagnosis and check my heart, hearing, and muscles?,Do I need a pacemaker now, or how will we know if I need one in the future?,How often should I have heart monitoring, and what warning signs should send me to the emergency room?,Should my family members be tested for this condition?,What type of hearing support is best for me, and will my hearing loss get worse over time?,Are there any clinical trials or research studies I could join?,What specialists should be part of my care team, and how often should I see each one?
Common questions about Nathalie syndrome
What is Nathalie syndrome?
Nathalie syndrome is an extremely rare inherited condition that affects multiple body systems at the same time. It was first described in a small number of individuals and is named after one of the original patients. The condition is also sometimes referred to in medical literature simply by its Orphanet classification as a rare multiple congenital anomaly syndrome. The syndrome mainly affects the heart, muscles, and the body's ability to hear. People with Nathalie syndrome typically have a heart rhythm problem called a conduction defect, which means the electrical signals that control the he
How is Nathalie syndrome inherited?
Nathalie syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Nathalie syndrome typically begin?
Typical onset of Nathalie syndrome is childhood. Age of onset can vary across affected individuals.