Symmetrical thalamic calcifications

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ORPHA:1314G93.8
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Overview

Symmetrical thalamic calcifications is a very rare neurological condition in which calcium deposits build up in both thalami — two egg-shaped structures deep in the center of the brain. The thalamus acts as a relay station, sending sensory and motor signals to the rest of the brain, so damage or abnormalities in this area can affect many body functions. This condition may also be referred to as bilateral symmetrical thalamic calcifications or may overlap with broader conditions involving brain calcifications. Patients with symmetrical thalamic calcifications may experience a range of neurological symptoms including movement difficulties, intellectual disability, seizures, speech problems, and developmental delays. The severity can vary widely from person to person. In some cases, the calcifications are discovered incidentally on brain imaging done for other reasons, while in other cases they are found during evaluation of neurological symptoms. The underlying cause is not always clear. Some cases appear to be genetic, while others may be related to metabolic disorders, infections, or other conditions that lead to abnormal calcium deposition in the brain. Treatment is mainly supportive and focused on managing symptoms such as seizures and developmental challenges. There is currently no cure or treatment that can reverse the calcifications once they have formed. A multidisciplinary team of specialists is usually needed to provide the best care.

Also known as:

Key symptoms:

Seizures or epilepsyIntellectual disabilityDelayed development in childhoodDifficulty with speech and languageMovement problems such as stiffness or tremorsDifficulty with coordination and balanceBehavioral changesMuscle weaknessVision problemsDifficulty swallowingHeadachesLearning difficulties

Clinical phenotype terms (16)— hover any for plain English
Weak cryHP:0001612
Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Symmetrical thalamic calcifications.

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No actively recruiting trials found for Symmetrical thalamic calcifications at this time.

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No specialists are currently listed for Symmetrical thalamic calcifications.

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 Symmetrical thalamic calcifications.

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Community

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Questions for your doctor

Bring these to your next appointment

  • Q1.What is the most likely cause of the thalamic calcifications in my case or my child's case?,Should we pursue genetic testing, and what would the results mean for our family?,What treatments are available to manage the symptoms?,How often should brain imaging be repeated to monitor the calcifications?,What therapies (physical, speech, occupational) would be most helpful?,Are there any clinical trials or research studies we could participate in?,What is the expected long-term outlook, and how might symptoms change over time?

Common questions about Symmetrical thalamic calcifications

What is Symmetrical thalamic calcifications?

Symmetrical thalamic calcifications is a very rare neurological condition in which calcium deposits build up in both thalami — two egg-shaped structures deep in the center of the brain. The thalamus acts as a relay station, sending sensory and motor signals to the rest of the brain, so damage or abnormalities in this area can affect many body functions. This condition may also be referred to as bilateral symmetrical thalamic calcifications or may overlap with broader conditions involving brain calcifications. Patients with symmetrical thalamic calcifications may experience a range of neurolog