What Is Basal Ganglia Calcification?

Basal ganglia calcification is a very rare condition that happens when calcium builds up in your brain, usually in the basal ganglia, the part of your brain that helps control movement. Other parts of your brain can be affected as well.

This can also be called familial idiopathic basal ganglia calcification or primary familial brain calcification, and it used to be called Fahr’s disease or Fahr’s syndrome.

You're most likely to get basal ganglia calcification between the ages of 30 and 60, though it can happen any time. Most people who develop it are in good health before they find out they have it.

Causes

Basal ganglia calcification sometimes happens when you age, but many times comes from genes passed to you by your parents. You only need one faulty gene from one parent to get the illness. Your parents may have symptoms of it, but sometimes they don’t.

Calcium build-up in your basal ganglia can also happen because of infection, problems with your parathyroid gland, and for other reasons. When it happens this way, it is also known as basal ganglia calcification, but is different from the genetic form of the disease.

Symptoms

You may have no symptoms at all. But if you do, there are usually two types: either movement-related or psychiatric. The exact symptoms depend on which part of your brain is affected.

Movement symptoms:

  • Clumsiness
  • Walking unsteadily
  • Talking more slowly than usual, or slurring your words
  • Difficulty swallowing
  • Involuntary movement of arms or legs
  • Cramped muscles
  • Stiff arms and legs (called spasticity)
  • Tremors, muscle stiffness, lack of facial expression

Psychiatric symptoms:

  • Poor concentration
  • Lapses in memory
  • Mood changes
  • Psychosis, or being out of touch with reality
  • Dementia

Other symptoms:

Diagnosis

There is no one test for the condition. Instead, doctors use several methods to see if you have it.

They usually start with symptoms and family history. If one of your brothers and sisters or a parent has it, it's more likely that your symptoms (if you have any) are part of the same syndrome.

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Imaging tests like magnetic resonance imaging (MRI) and X-rays might show if there’s any calcium build-up in your brain. A CT scan, which combines many X-rays to make detailed pictures of parts of your body, is the most common imaging test used. But if there is calcification, they can’t always tell if it's because of the condition or something else.

Your doctor might do special urine and blood tests to help rule out other problems.

Testing of your genes is also possible if other things point to the illness.

Genetic Testing and Counseling

If one of your parents has it, you have a 50% chance of having it as well. If the condition runs in your family, you can get your genes tested whether you have symptoms or not.

Consider genetic counseling from a professional before you have any genetic test. Counselors can also help you decide whether to have testing during your pregnancy, or prenatal testing, if you want to start a family. Prenatal testing for this disorder is available if you already know that it is present in your family.

Treatment

There is no cure, but there is treatment for the symptoms. For example, if you have seizures, certain anti-epileptic medicines can help. Or if you have migraines, you can take medicine to both prevent and treat them.

If you are anxious or depressed, see your doctor. There are medicines to help with mood issues.

If you have this condition, it’s a good idea to see your doctor or specialist every year to see if it’s changed or advanced.

WebMD Medical Reference Reviewed by Neil Lava, MD on November 11, 2018

Sources

Sources:

Saleem, S. Orphanet Journal of Rare Diseases, 2013.

National Library of Medicine: "Familial idiopathic basal ganglia calcification."

Sobrido, MJ. GeneReviews, 2014.

Uptodate.com: "Diagnosis and differential diagnosis of Parkinson disease."

Genetic and Rare Diseases Information Center: "About GARD," "Primary Familial Brain Calcification."

National Institute of Neurological Diseases and Stroke: "NINDS Fahr's Syndrome Information Page."

Online Mendelian Inheritance in Man: Basal Ganglia Calcification, Idiopathic, 1; IBGC1."

National Organization for Rare Disorders: "Primary Familial Brain Calcification."

Fahr Too Strong Foundation.

CheckOrphan: "Rare, Orphan and Neglected Diseases." 

International Parkinson and Movement Disorder Society.

Parkinson's Disease Foundation.

Dystonia Medical Research Foundation.

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