Genetic Disorders Expert Forum
Fahr's disease or syndrome
About This Forum:

Questions in the Genetics Forum are being answered by medical professionals and experts. This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Ashkenazi Jewish Diseases, Bleeding Disorders, Blood Clotting Disorders, Cancer Genetics and Hereditary Cancer Syndromes, Chromosome Abnormalities, Congenital Birth Defects, Cystic Fibrosis, Family History, Fragile X Syndrome, Infertility, Newborn Screening, Rare Genetic Disorders, Prenatal Screening and Testing.

Font Size:
A
A
A
Background:
Blank
Blank
Blank
This expert forum is not accepting new questions. Please post your question in one of our medical support communities.
Blank Blank

Fahr's disease or syndrome

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

886824_tn?1253740254
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
3 Comments
Blank
Avatar_f_tn
What does MS and CGC mean
Blank
886824_tn?1253740254
Masters of Science, Certified Genetic Counselor.
Blank
Avatar_f_tn
A related discussion, Fahr's disease was started.
Blank
Continue discussion Blank
MedHelp Health Answers
Blank
Weight Tracker
Weight Tracker
Start Tracking Now
RSS Expert Activity
242532_tn?1269553979
Blank
Emotional Eating Control: How to St...
Aug 28 by Roger Gould, M.D.Blank
233488_tn?1310696703
Blank
New Cannabis Article from NORTH Mag...
Jul 20 by John C Hagan III, MD, FACS, FAAOBlank
242532_tn?1269553979
Blank
3 Reasons Why You are Still Binge E...
Jul 14 by Roger Gould, M.D.Blank