Fahr's Syndrome

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What is Fahr's syndrome?

Fahr's syndrome, also called Fahr’s disease, is a rare brain disorder. It’s caused by a buildup of the mineral calcium mainly in areas of the brain that control movement, but it can also affect other parts of the brain.      

The extra calcium comes from the body’s own blood and tissues. Because of a problem in how the brain handles minerals, calcium that should stay dissolved in the bloodstream gradually builds up in certain areas of the brain. In people with Fahr’s syndrome, the extra calcium affects how brain cells work and can gradually damage brain tissue.

Variants (also called mutations) in at least four different genes cause Fahr’s syndrome. Fahr’s syndrome is inherited in an autosomal dominant pattern. A person only needs to inherit one copy of the affected gene from either parent to have the disease. 

Symptoms of Fahr’s syndrome

People usually start to show symptoms of Fahr’s syndrome in their 40s or 50s. Fahr’s syndrome symptoms can include:

  • Trouble moving
  • Dementia
  • Seizures
  • Headache
  • Trouble speaking
  • Depression
  • Stiffness of the limbs
  • Painful body positions that are difficult to change
  • Eye problems
  • Uncontrolled movements such as rapid, jerky, or twisting movements
  • Tremors (shaking movements)
  • Tight, rigid muscles
  • A facial expression that appears stiff
  • Walking with short, dragging steps
  • A “pill-rolling” motion of the fingers, where the thumb and fingers rub together

How is Fahr’s syndrome diagnosed and treated?

Diagnosing Fahr’s syndrome

Doctors use brain scans to diagnose Fahr’s syndrome. CT scans show calcium deposits as bright areas in specific parts of the brain, while MRI scans provide detailed images of the brain that helps rule out other conditions. Genetic testing can also be done to identify gene variants that cause Fahr’s syndrome.

Learn more about neurological diagnostic tests and procedures.

Treating Fahr’s syndrome

Currently, there is no cure for Fahr's syndrome. Instead, doctors treat symptoms of the disorder. They may use pain medicines for headaches, medicines to control seizures, and medicines for depression. Physical therapy can also help people with the condition move more easily and perform daily tasks.

What are the latest updates on Fahr's syndrome?

The National Institutes of Health (NIH), which includes NINDS, is the leading federal funder of research on the brain and nervous system, including disorders such as Fahr’s syndrome. NIH supports new research to better understand, diagnose, and treat Fahr’s syndrome.

For more information on research about Fahr’s syndrome, check NIH RePORTER, a searchable database of current and past research projects funded by NIH and other federal agencies. RePORTER also has links to publications and resources from these projects.

For research articles and summaries on Fahr’s syndrome, search PubMed, which contains citations from medical journals and other sites.     

 
Learn About Clinical Trials

Clinical trials are studies that allow us to learn more about disorders and improve care. They can help connect patients with new and upcoming treatment options.

How can I or my loved one help improve care for people with Fahr's syndrome?

Consider participating in a clinical trial so clinicians and scientists can learn more about Fahr's syndrome and related disorders. Clinical research with human study participants helps researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of participants are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities. This helps make sure that study results apply to as many people as possible and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research, visit the NINDS Clinical Trials site and NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with Fahr's syndrome at ClinicalTrials.gov, a searchable database of current and past clinical studies and research results.

Where can I find more information about Fahr's syndrome?

Information may be available from the following organizations and sources:

MedlinePlus

National Institute of Mental Health (NIMH)
301-443-4513 or 866-615-6464
nimhinfo@nih.gov

National Organization for Rare Disorders (NORD)
203-744-0100

Order publications from the NINDS Catalog
The NINDS Publication Catalog offers printed materials on neurological disorders for patients, health professionals, and the general public. All materials are free of charge, and a downloadable PDF version is also available for most publications.