OBSOLETE: Infantile symmetrical thalamic degeneration

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ORPHA:3311
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Overview

Infantile symmetrical thalamic degeneration is an extremely rare neurological condition that was historically described in infants and involves the progressive breakdown (degeneration) of the thalamus on both sides of the brain. The thalamus is a key relay station deep in the brain that helps process sensory information, movement signals, and consciousness. When this area degenerates symmetrically in infancy, it can lead to severe neurological problems including developmental regression, seizures, movement abnormalities, and progressive loss of previously acquired skills. This condition is now classified as 'OBSOLETE' in medical databases, meaning that with advances in genetic testing and neuroimaging, cases previously grouped under this name have likely been reclassified into more specific diagnoses, such as particular mitochondrial disorders, organic acidemias, or other metabolic conditions that can cause thalamic damage in infants. Because of this reclassification, very little current medical literature uses this specific term. Families who were given this diagnosis in the past are encouraged to seek updated genetic evaluation, as modern testing may identify a more precise underlying cause, which could open doors to more targeted management and genetic counseling.

Key symptoms:

Developmental regression (losing skills the baby had already learned)SeizuresAbnormal muscle tone (too stiff or too floppy)Difficulty feeding or swallowingInvoluntary abnormal movementsProgressive loss of awareness or responsivenessVision problems or loss of visual trackingIrritability or excessive cryingFailure to reach developmental milestonesBreathing difficulties

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Infantile

Begins in infancy, roughly 1 month to 2 years old

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Infantile symmetrical thalamic degeneration.

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No actively recruiting trials found for OBSOLETE: Infantile symmetrical thalamic degeneration at this time.

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No specialists are currently listed for OBSOLETE: Infantile symmetrical thalamic degeneration.

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: Infantile symmetrical thalamic degeneration.

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Community

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Latest news about OBSOLETE: Infantile symmetrical thalamic degeneration

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Caregiver Resources

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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.Has modern genetic testing been done to identify a specific underlying cause for the thalamic degeneration?,Are there any treatable metabolic conditions that could explain my child's symptoms?,What is the best plan for managing my child's seizures?,Should we consider whole exome or whole genome sequencing if it hasn't been done?,What supportive therapies (physical therapy, feeding support) would benefit my child?,Are there any clinical trials or research studies that might be relevant?,What palliative care resources are available to help our family?

Common questions about OBSOLETE: Infantile symmetrical thalamic degeneration

What is OBSOLETE: Infantile symmetrical thalamic degeneration?

Infantile symmetrical thalamic degeneration is an extremely rare neurological condition that was historically described in infants and involves the progressive breakdown (degeneration) of the thalamus on both sides of the brain. The thalamus is a key relay station deep in the brain that helps process sensory information, movement signals, and consciousness. When this area degenerates symmetrically in infancy, it can lead to severe neurological problems including developmental regression, seizures, movement abnormalities, and progressive loss of previously acquired skills. This condition is now

At what age does OBSOLETE: Infantile symmetrical thalamic degeneration typically begin?

Typical onset of OBSOLETE: Infantile symmetrical thalamic degeneration is infantile. Age of onset can vary across affected individuals.