These recent postings which describe "inherited MS" appear to have a dominant gene pattern (due to the frequency in the family..each child of an affected member having a 50-50 chance of getting it). It is important that you all know that there a number of known dominantly-inherited neurodegenerative diseases which were, up until late 1990s, usually misdiagnosed as MS. The genes for these disorders began to be discovered in mid-1990s, one by one. There are still some for which the gene is being looked for but not discovered. Some of these are the inherited spino-cerebellar ataxias, a form in familial paraplegia, a form of muscular dystrophy, et al. ("ataxia" means "without coordination"). We're talking mostly about adult onset diseases.

Families with any familial disease involving muscular coordination and/ or degeneration should see a neurologist who tests an affected family member for the DNA panel on the ataxias (called an ataxia panel). Be sure the lab has the ability to test for ALL the known inherited neuromuscular diseases---as far as I know, only Athena Lab can do this (Athena does a lot of gene research in this area, and labs usually patent their diagnostic gene tests).

It is important that an affected family member be tested every few years as new tests for newly discovered genes are found...the whole panel does not have to be run. It is important to research efforts that families get a definite diagnosis of type....all types do not have the same progression, lifespan, etc. This enables those at risk to have diagnostic testing if they should (before having children), make long-term plans, and allows the researchers to actually get a handle on how many persons there are affected by these diseases. Neurologists do not report these numbers. Yet, it is through knowing how many that researchers get grant money, pharmaceutical companies get interested in research and drug developement. There are many, many families who are affected but not counted in the national numbers.

No matter the result of DNA testing, the neurologist really should refer the family to a movement disorder clinic for further evaluation, support, and better treatment for symptoms. Most neurologists see only a few of these cases, and are not abreast of the latests tests, treatments for symptoms, clinical trials, nor the emotional support needed to the family. Many members of the national organizations for these diseases complain that their local neurologist did not refer them to any group or specialty clinic but more or less said there's nothing to be done, go home.
This is not true and those neurologists are not doing their patients a service. This is not just my opinion, but is the opinion of neurologists who specialize in working with these kinds of patients and who have said so outloud. There is a chronic problem with neurologists not recognizing their lack of expertise in the area and not recognizing the benefit to the patient, even psychologically, to see someone who knows a lot about it.

For more information on these various inherited disorders, please visit the website for the National Ataxia Foundation, which is "ataxia dot org" (I don't think the posting allows me to actually type the website in). The organization is a wonderful support to families and funds research for this area. The site is building a list of movement disorder clinics available around the country. There is one is Jackson, MS and one in Atlanta which are not yet on the list (due to a mistake) but will be added shortly.

Through NAF, you can come in contact with other people with the same specific type in your family, or with others who tests is negative, which only means the gene hasn't been discovered yet. Those families are of interst to the ataxia researchers. And some of these families DO have genealogy histories on their family. There are support groups throughout the country. There is an annual membership meeting (convention) held in a different city each year, which is attended by as many as 600 people. At this meeting, leading movement disorder specialists, ataxia researchers, and other disciplines give presentations on a variety of useful topics related to these disorders, included what's going on in worldwide research.

I personally know what it is like to have people in every generation have a particular unknown inherited neurodegenerative disease, and what it is like to know no other families with in. I cannot stress the value of finally have a correct, certain diagnosis and to be associated with specialists who actually see a lot of people with these disorders, and to be affiliated with a group that is positive, encouraging, cares about research, and provides value information. Knowledge is power. And there is power in doing something that helps future generations in your own family, even if it doesn't help you personally.

In the works is a North American ataxia registry where patients can register to be put on secure lists where they will receive updates on research available for their particular type of ataxia. This was just announced at the national meeting a few weeks ago. It won't be up and running until later this year (late 2009). If you live on the West coast, there is already one out of UCLA (Dr. Susan Perlman). There is also one out of Emory U. in Atlanta but I believe it is having some operational problems and I do not know the current status. Information is available through the NAF website or office.

If anyone has any further questions, including genealogy related to such inherited diseases, please feel free to contact me by private email or public postings. I am an experienced researcher---not paid professional but have attended probably 12 day-long training sessions as well as 20 or so training presentations, and have done research for probably 20 years, and spent hundreds of hours in archives. I am a sanctioned volunteer spokesperson (Ambassador) for the National Ataxia Foundation (for about 30 years), am a licensed clinical social worker and also a licensed Registered Nurse, attend almost every annual meeting, and have SCA3 in my family, as well as knowing many other families with other forms of inherited neuromususcular diseases. If I can't help you with your questions, I'll find someone who can.