What is Fahr’s Disease?
- It is a genetic neurodegenerative disease characterized by Bilateral Calcification of the Basal Ganglia and other brain regions. Also known as Familial idiopathic Basal Ganglia Calcification.
How do you get it?
- Fahr’s Disease is inherited through genetic mutation.
- There are three known genetic markers that have been linked to Fahr’s disease. At this time, however, over half of those diagnosed still remain without a known cause.
Will it kill you?
- Fahr’s Disease is progressive and degenerative.
- As calcium builds up, loss of previously acquired skills occur, as well as loss of motor functioning. This could lead to death.
What are the signs and symptoms?
- Symptoms vary widely among those affected even within the same family.
- Some symptoms include:
- loss of previously acquired skills
- motor planning
- muscle tics
- rigidity of muscles
- speech issues (apraxia)
- balance issues (ataxia)
- Locking of muscles and joints (dystonia)
- severe muscle pain
- feeding issues
- involuntary muscle movements
- executive functioning and cognitive processing issues
Who get’s it?
- Anyone can get Fahr’s disease but the vast majority of people diagnosed are in their late 40’s to early 50’s and have a family history of the disease.
- Symptoms and presence of the disease can occur earlier in life with subsequent generations.
Is there a cure?
- There is no treatment or cure for Fahr’s Disease at this time. Treatment is directed to reduce symptoms associated with Fahr’s.
How is it diagnosed?
- Fahr’s Disease is diagnosed by obtaining a complete family history, CT scan of brain showing calcifications in the brain, and the absence of any metabolic or infectious causes.