OBSOLETE: Sinus node disease-myopia syndrome

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ORPHA:3122
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Overview

Sinus node disease-myopia syndrome is an extremely rare condition that combines two main problems: a heart rhythm disorder called sinus node disease (also known as sick sinus syndrome) and nearsightedness (myopia). The sinus node is the heart's natural pacemaker, a small cluster of cells that sends electrical signals telling the heart when to beat. When the sinus node does not work properly, the heart may beat too slowly, too fast, or irregularly. This can cause symptoms like dizziness, fainting, fatigue, and shortness of breath. The myopia (nearsightedness) component means that affected individuals have difficulty seeing objects that are far away. This condition has been described in only a very small number of families in the medical literature, making it one of the rarest known genetic syndromes. Because of its rarity, the understanding of this disease is limited. The term is now listed as 'OBSOLETE' in Orphanet, which may mean it has been reclassified or merged with another condition as scientific understanding has advanced. Treatment is mainly focused on managing symptoms. Heart rhythm problems may require a pacemaker to keep the heart beating at a normal rate. Myopia is typically corrected with glasses or contact lenses. Regular monitoring by both a cardiologist and an eye doctor is important for people with this condition.

Key symptoms:

Slow heart rate (bradycardia)Irregular heartbeatFainting or near-fainting episodesDizziness or lightheadednessFatigue and low energyShortness of breathNearsightedness (difficulty seeing far away)Heart palpitationsExercise intolerance

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Sinus node disease-myopia syndrome.

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No actively recruiting trials found for OBSOLETE: Sinus node disease-myopia syndrome at this time.

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Search ClinicalTrials.gov ↗Join the OBSOLETE: Sinus node disease-myopia syndrome community →

No specialists are currently listed for OBSOLETE: Sinus node disease-myopia syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to OBSOLETE: Sinus node disease-myopia syndrome.

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Community

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Latest news about OBSOLETE: Sinus node disease-myopia syndrome

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

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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.Does my child need a pacemaker, and if so, when should it be placed?,How often should we have heart rhythm monitoring done?,Are there any physical activities or sports my child should avoid?,Is genetic testing available to confirm the diagnosis or identify the cause?,What should I do if my child faints or has an episode of very slow heartbeat?,How often should my child have eye exams for their nearsightedness?,Are other family members at risk and should they be screened?

Common questions about OBSOLETE: Sinus node disease-myopia syndrome

What is OBSOLETE: Sinus node disease-myopia syndrome?

Sinus node disease-myopia syndrome is an extremely rare condition that combines two main problems: a heart rhythm disorder called sinus node disease (also known as sick sinus syndrome) and nearsightedness (myopia). The sinus node is the heart's natural pacemaker, a small cluster of cells that sends electrical signals telling the heart when to beat. When the sinus node does not work properly, the heart may beat too slowly, too fast, or irregularly. This can cause symptoms like dizziness, fainting, fatigue, and shortness of breath. The myopia (nearsightedness) component means that affected indiv

How is OBSOLETE: Sinus node disease-myopia syndrome inherited?

OBSOLETE: Sinus node disease-myopia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does OBSOLETE: Sinus node disease-myopia syndrome typically begin?

Typical onset of OBSOLETE: Sinus node disease-myopia syndrome is childhood. Age of onset can vary across affected individuals.