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Genetics (Expert Forum)
Fahr's disease or syndrome
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AccessDNA
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Fahr's disease or syndrome
by Paula428, Oct 09, 2009 11:05AM
I am 61,female,and in good general health. It sees that my paternal grandfather had undiagnosed Parkinson's. No one else in my immediate family has this Fahr's. Right now, I have ataxia of speech as well as some balance issues. What will happen next to me?? Is there anything recent to report in Fahr's research? Paula
Doctor's Answer
by Jordanna Joaquina, MS, CGC, Oct 29, 2009 01:29PM
, Oct 29, 2009 01:29PMTo: Paula428
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
- dementia
- seizures
- headache
- 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
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
- dementia
- seizures
- headache
- 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
Member Comments (3)
by Paula428, Oct 29, 2009 04:00PM
To: Jordanna Joaquina, MS, CGC
What does MS and CGC mean
by Jordanna Joaquina, MS, CGC, Oct 30, 2009 12:16PM
, Oct 30, 2009 12:16PMTo: Paula428
Masters of Science, Certified Genetic Counselor.
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