Fahr disease, now known as familial idiopathic basal ganglia calcification (IBGC), is a condition characterized by abnormal deposits of calcium in areas of the brain, particularly the basal ganglia. The classification of adult forms of this disorder is further broken down into type 1 and type 2, depending on the genetic cause.
If you or anyone if your family has received a diagnosis of IBGC or is experiencing neurological symptoms, we recommend that you meet with a medical geneticist for evaluation. A medical geneticist is a doctor who specializes in genetic disorders, such as IBGC, and can discuss the natural history of the disorder, any genetic testing options, and the inheritance pattern of the condition. If you haven't already, we also recommend that you meet with a neurologist.
Symptoms of the disorder are varied and may include:
- deterioration of motor function
- problems with movement and coordination
- dysarthria (poorly articulated speech)
- spasticity (stiffness of the limbs)
- eye impairments
- muscle dystonia (disordered muscle tone)
Age of onset is typically between a person's 30 - 50s, and again, the condition is highly variable. As such, it can be difficult to predict symptoms and treatment is tailored to an individual's specific symptoms.
You can find a medical geneticist in your area at the American College of Medical Genetics website. You can find clinical trials related to IBGC at the clinical trial gov website. We wish you the best
Masters of Science, Certified Genetic Counselor.
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