The National Ataxia Foundation Champions Research, Education, and Support Services

November 1, 2007

Ataxia is a relatively rare, genetic neuromuscular disorder, affecting about 150,000 persons in the United States. It is one of those disorders for which knowledge is growing but is slow to get to the practicing clinician. Hence, many persons with ataxia go for years with no diagnosis or a misdiagnosis. Alternately, because ataxia is a progressive disorder without a cure, many patients are given a stark diagnosis and sent home to cope with the disorder on their own.

Ataxia is a relatively rare, genetic neuromuscular disorder, affecting about 150,000 persons in the United States. It is one of those disorders for which knowledge is growing but is slow to get to the practicing clinician. Hence, many persons with ataxia go for years with no diagnosis or a misdiagnosis. Alternately, because ataxia is a progressive disorder without a cure, many patients are given a stark diagnosis and sent home to cope with the disorder on their own.

However, a great deal of information and support resources for physicians and for patients and their families is available through the National Ataxia Foundation (NAF), headquartered in Minneapolis. National and international chapters and support groups abound, and the NAF's Web site (www.ataxia.org) is a portal for all kinds of useful information for the clinician, researcher, and patient. A section on caregiver education and coping is in development.

SUPPORTING RESEARCH

"The National Ataxia Foundation has been around since 1957," explained the NAF's executive director, Michael Parent, in an interview with Applied Neurology. "A primary focus is to support ataxia research. In the past 8 years, the foundation has funded exactly 100 research studies in 8 different countries."

Indeed, the NAF brings scientists together through international research symposia. Upcoming-in March 2008-is the second Ataxia Investigators Meeting. "We will have 100 to 120 of the top ataxia scientists from around the world gathering for 3 days to share with each other and encourage collaboration and accelerate ataxia research," said Parent.

KEY SOURCE FOR ATAXIA LITERATURE

"We are a world leader in ataxia publications," Parent added. The organization puts out a 48-page quarterly news publication called Generations, which has a readership of more than 30,000 people worldwide. Although intended for patients, the journal is popular reading for ataxia researchers as well, according to Parent.

Fact sheets on the wide range of ataxia subtypes are available in downloadable pdf formats on the NAF Web site. "Not too long ago, all dominantly inherited ataxias were known as Marie's ataxia and all recessive forms were known as Friedrich's ataxia. Now we recognize more than 40 types of dominant-type ataxias and more than 13 recessive types-and more are to be discovered, I'm sure," noted Parent.

Featured booklets that are available through the NAF include Living With Ataxia, a booklet on speech and swallowing, and new booklet for physicians titled Evaluation and Management of Ataxic Disorders: An Overview for Physicians, which outlines the symptoms and classifications of ataxia and provides information on molecular genetics and tips on differential diagnosis.

The booklet for physicians was developed to address the frustration among patients in getting an appropriate diagnosis and subsequent care, according to NAF patient services director, Becky Kowalkowski. Patients often relate their frustration about getting an accurate diagnosis to Kowalkowski.

"You have people who say things like, 'I've gone to 17 different neurologists and I cannot get a diagnosis,' or you have those who have lived with a misdiagnosis for most of their lives and are now finding out that they have ataxia. This is a big issue," said Kowalkowski. Part of the problem is that ataxia is a rare disorder, she conceded. "Many neurologists and generalists may have read about it in a textbook but have never worked with it. A lot of patients request information from us to give to their physicians to bring them up to speed about the disorder."

TREATMENT

"Many times a doctor will say, 'You have ataxia. There's nothing we can do about it. There's no cure so go home and come back in a year and we'll see what happens then,'" Kowalkowski commented. Or worse, "They say that you're going to live for 5 years and that's it," Parent added. Of course, these types of responses are not helpful, but they allegedly have been uttered to patients who have progressive, incurable illnesses (see "Raising the Bar on ALS Care: It's Possible and Appreciated" in the March 2007 issue of Applied Neurology).

Kowalkowski explained that treatment includes physical or occupational therapy, speech and swallowing therapy, and pharmacotherapy for symptom management. She noted that disease progression depends on the type of ataxia a patient has. "Some forms progress very quickly whereas others are slow progressing. Also it depends on onset. Late [adult] onsets usually are slower progressing," said Kowalkowski. Parent added that rate of progression also can differ from family to family.

GENETIC TESTING

Genetic testing is available for some forms of ataxia. "The catch is that because tests are not available for some ataxias, a test could come back negative although the patient might still have a form of ataxia," explained Kowalkwoski. She added that "this situation is frustrating, and it is why research is so important."

When asked about whether genetic testing is appropriate for asymptomatic persons or persons who suspect they might have ataxia, Kowalkowski noted that the NAF presents genetic testing as a personal decision. "We always recommend that the patient talk to a genetic counselor first." Generally, genetic testing may be helpful in select patients for whom the diagnosis is in question.

SUPPORT GROUPS AND QUALITY OF LIFE

"Support groups, chat rooms, and involvement with a cause play a big part in quality of life for patients," said Kowalkowski. The NAF actively encourages patient and caregiver networking. Chapters and support groups are the means through which patients and families can share their concerns and exchange information, explained Parent. Invited speakers also are a feature at support groups, he said.

"We hold an annual membership meeting in a different location every year," Kowalkowski added. "Last year, 500 people attended the 3-day conference. It is a wonderful place for people with ataxia to meet and exchange information, but it is a social gathering as well. Support makes a big difference." Breakout sessions focusing on caregiver issues are also an integral part of the annual membership meetings, Parent said.

Besides making an accurate diagnosis, one of the best things that physicians can do for patients with ataxia and their caregivers and families is to direct them to support groups, Parent and Kowalkowski concluded. The NAF is the primary resource for such information.