What is Fahr?

Fahr's Disease is a rare neurological disorder characterized by calcifications (calcium production) in primarily the basal core of the brain.
In patients with Fahr's Disease we can distinguish three groups of symptoms which may occur in variable combinations.

  1. Motor Function Disorders
    -stiffness of limbs and torso
    -shaking of arms and legs at rest
    -movement reduction, mask-like facial appearance, slurred monotone speech
    -shuffling gait
    -difficulty maintaining balance
    -sudden, rapid, involuntary movements
    -constant muscle spasms
    -difficulty swallowing, frequent choking
  2. Memory and Cognitive disorders:
    -memory loss
    -indecisiveness
  3. Psychiatric disorders:
    -mood impairment whereby state of mind is inappropriate to contextual situation
    -delusions and confusion

The typical onset of Fahr’s disease is between 30 and 50 years of age but signs of disease can be visible from childhood.

There is no specific treatment or medication for Fahr. In the case of serious complications pharmacological treatment of symptoms can be beneficial.

Fahr’s disease was considered to be extremely rare until several years ago. Only one out of a million people was thought to suffer from it. Which would amount to 17 patients in The Netherlands. This appears not to be entirely correct. Thanks to genetic research in the last few years we now know that there are between 4.5 per 10.000 and 6.1 per 1000 patients. This means there are several thousand patients in the Netherlands. Unfortunately these are often not recognized as suffering from Fahr’s disease.

Symptoms of the disease vary greatly and very few are specific to Fahr’s.
Consequently doctors often diagnose these patients with an illness which occurs more frequently such as Parkinson’s or dementia.

Diagnosis

In order to reach a correct diagnosis the doctor needs to evaluate the following aspects:

  • Presence of abnormalities in motor, cognitive and psychiatric abilities
  • A CT scan of the brain showing large calcifications both on the left and right sides of the brain
  • Bloodtests to determine there is no other cause of these calcifications such as an infection, hormonal disorders or an accident.
  • These same anomalies exist in family members
  • The first symptoms occur between 30 and 50 years of age
  • In genetic testing gene mutations have been found in more than half of the patients which could clarify the abnormalities.

On the image below you see a CT scan. On the left a 'healthy' brain, on the right someone with Fahr's disease. The white area's is the calcification.

Deze afbeelding heeft een leeg alt-attribuut; de bestandsnaam is fahr-300x200.jpg
Source image: Wikipedia
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