Genetics


Posted by June in Toronto (June Floyd,June in Toronto), Aug 22,2001,08:38   Archive
This is an excerpt of a Dystonia e-mail I received on a chat transcript on the ABC website. Dr. Susan Baser, Neurologist at Pittsburgh Allegheny General Hospital was the doctor answering questions. I'm not sure if it will show us any light re genetics.

Question: "How early in childhood can this condition be diagnosed? What are the symptoms? My 3-year old constantly complains about pain in his leg and foot. What should I watch for and any tests that can be done?"

Dr. Susan Baser at 4:34pm ET

The first thing are there are genetic tests available for several of the genetically based dystonias. The vast majority are what are called idiopathic dystonia, and idiopathic means we don't know for a cause.
The most common cause that we're aware of is traumatic. Trauma
could mean anyting from a head injury to a stroke or a loss of oxygen to the brain. The genetically based dystonias are rate, but several can be
diagnosed by a blood test. Typically in someone so young you have a very
large differential diagnosis, and so the place to start in a person that age would be with your general pediatrician and then from there a pediatric neurologist.

Moderator at 4:35pm ET
Question: "I recently met my biological mother who has dystonia. Is
there any evidence that this condition may be hereditary?"

Dr. Susan Baser at 4:38pm ET
Again, there is a blood test available for two of the more common mutations in the type 1 dystonia. Now, the interesting thing is,
patients can carry the gene and not have any symptoms, so even if the writer carries the gene for dystonia it doesn't guarantee that she'll have symptoms similar to her biological mother. Now, this is something just recently discovered. There was a study done about one and a half years ago in a botox clinic for torticollis which showed that a significant number of patients had a positive gene test with no family history. The gene is dominantly inherited so you would expect that these patients would have at least one affected parent.

It would probably be best to see your family doctor, get a good general
examination and make sure that he or she does not find any neurologic
abnormalities. So in summary, a positive blood test may not guarantee that you'll even develop symptoms, but a positive blood test is very helpful if you do have symptoms."
--------------------
June in Toronto




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Re: Genetics

Re : Genetics --- June in Toronto
Posted by Kelly Saffell , Aug 22,2001,09:01 Top of Thread Archive
I have recently wondered if I should have the blood test. While I know alot about beb I don't understand the differences between the dystonias. I did read somewhere that the gene was associated with early onset which was by the age of 25. I was diagnosed at 26. Beb runs in my family along with essential tremors but most family members were much older before onset. I guess I should talk to my neuro. While I was in a serious car accident 10 years prior to diagnosis my symptoms began after childbirth. While my l&d was easy the year before I had miscarried twins and then gotten and infection in my uterus. Who knows???



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Re: Genetics

Re : Re: Genetics --- Kelly Saffell
Posted by Virginia , Aug 22,2001,09:41 Top of Thread Archive
At the genetics talk at the conference, it was stated that there is a low rate of penetrance of the abnormal gene. Only 15-30% of gene carriers show symptoms which may only be apparent later in life. They have concluded that gene disorders are influenced by other factors (other genes or environmental factors). They have found several genetic abnormalities associated with dystonia and it is possible that they will find more.

Virginia in AL - anyone have anything else to add (or correct)?




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