TRIAL OF ANABOLIC STEROID IN DMD

A recent MDA-funded pilot study of 10 boys with Duchenne muscular dystrophy showed a positive effect of the steroid drug oxandrolone (Oxandrin).

After treatment with the drug for three months, there was a slight average improvement in muscle strength scores, compared with the expected slight loss of strength over this time period.

Oxandrolone is an "anabolic" steroid, very different from the prednisone type of steroid, which is "catabolic." It's a synthetic derivative of testosterone, a male hormone.

The drug is made by Bio-Technology General, which supplied it for the pilot study.

A new 80-patient, MDA-funded study of oxandrolone is now open for enrollment at four MDA clinics: the University of Rochester (N.Y.) Medical Center; Ohio State Medical Center (Columbus); Vanderbilt University Medical Center (Nashville, Tenn.); and Washington University Medical Center (St. Louis, Mo.). In Canada, the center is the University of Alberta in Edmondton.

Sixteen boys with Duchenne, with a diagnosis confirmed by either a DNA test or a dystrophin protein test, will be selected from each of these centers. The boys should be 5 to 10 years old and cannot have taken prednisone or any other steroid drug at any time.

Those interested should contact the clinic director at the participating MDA clinics. In Canada, the study director is Michael Brooke at the University of Alberta. The number to call is (403) 492-4019.

MDA clinic directors Gerald Fenichel at Vanderbilt and Alan Pestronk at Washington University were among the authors of the pilot study report, published in the May 1997 issue of Neurology.

THYMECTOMY IN MG -- THE MORE REMOVED, THE BETTER

The thymus sits high in the chest, behind the lungs and in front of and above the heart.

Thymectomy, or removal of the thymus, has been used as a treatment for myasthenia gravis since the 1940s. The thymus is an organ in the chest that plays a regulatory role in the immune system. In myasthenia gravis, a malfunction of the thymus is thought at least partly responsible for this autoimmune disease, in which the immune system mistakenly attacks muscles at the point where nerve-to-muscle stimulation normally occurs.

In an article in supplement 5 to the April 1997 issue of Neurology, Arthur Jaretzki of Columbia-Presbyterian Medical Center in New York reviews several decades of literature and patient reports. He concludes that the more thymic tissue a person has removed, the better the chance of remission in myasthenia gravis. Many thymectomy surgeries only remove part of the organ, he says. He notes, however, that reports of how much tissue has been removed and definitions of remission haven't been standardized, making it hard to interpret data with certainty.

MDA Medical Advisory Committee members Audrey Penn of the National Institutes of Health and Lewis Rowland of Columbia-Presbyterian Medical Center were advisers on this project.

PARTICIPANTS WANTED FOR STUDY OF HEART RHYTHM ABNORMALITIES IN MYOTONIC DYSTROPHY

If you have myotonic muscular dystrophy, you're at increased risk of several types of heart rhythm abnormalities.

Rahman Pourmand, MDA clinic director at Wishard Memorial Hospital in Indianapolis, and William Groh, a cardiologist at Indiana University's Krannert Institute, are co-investigators for a study on this type of heart problem.

The study is sponsored by Medtronic, a manufacturer of medical electronic equipment. There are openings for about 300 participants.

You can enter the study through your local MDA clinic, even if you don't live in Indiana. Every participant will receive free genetic testing and cardiac monitoring.

The goal of the first phase is to identify those at highest risk of heart rhythm abnormalities. A trial of how to treat these high risk individuals may follow.

For information, call research nurse Judy Hostetler at Indiana University at (317) 630-7126, or see your local MDA clinic director.

NEW SMA TESTS DEVELOPED

Athena Diagnostics of Worcester, Mass., can do commercial testing for chromosome 5-linked spinal muscular atrophy (types 1, 2 and 3), using cells from a blood sample. The test notes abnormalities in two sections (known as exons 7 and 8) of the SMN, or survival of motor neuron, gene. Deletion of all or part of the SMN gene has been identified as the cause of SMA in about 90 percent of all cases. You or your doctor can call Athena at (800) 394-4493.

MDA-funded researchers at Ohio State University in Columbus have developed even more specific genetic testing for this form of SMA. Their test can detect SMA carriers -- people who can pass on a gene for SMA but who don't have the disorder themselves -- and can also identify unusual SMA-causing genetic mutations (those other than deletions of exons 7 and 8). This test should be used only by people who have a known history of SMA in their families, since the researchers aren't equipped to do large-scale population screening. MDA can put you or your doctor in touch with the Ohio State researchers. The number to call at MDA is (800) 572-1717.

MDA grantees Arthur Burghes, Thomas Prior and Patricia McAndrew, and MDA clinic director Jerry Mendell, were part of a team of American and Canadian researchers who published a study about SMA genetic testing in the June 1997 issue of the American Journal of Human Genetics.

The Ohio State test and the commercial test each cost about $300. Other commercial laboratories may also offer the deletion test.

STRENGTH TESTS ALONE DON'T REFLECT LGMD COURSE

Limb-girdle muscular dystrophies are disorders that begin with weakness of the pelvic and shoulder muscles and eventually progress to involve other muscles to varying degrees. They result from mutations in any of at least nine genes. Most of these genes code for proteins that normally lie near the membrane surrounding muscle fibers and probably help protect the fiber from damage during muscle contraction.

Limb-girdle dystrophies have been thought to cause minimal or moderate disability with very slow progression. However, typical tests for loss of muscle function may be misleading in charting the course of these diseases, a recent study says.

Researchers from Cornell University Medical College in New York and the Lynn Medical Clinic in Pretoria, South Africa, studied 20 people with various forms of limb-girdle dystrophy in 1989 and 1990 and then again in 1996.

The researchers tested these patients on scales of muscle strength, functional abilities and activities of daily living. On tests that reflected muscle strength alone, 11 patients actually improved between the 1989-90 testing and the 1996 testing, while seven patients deteriorated. One patient stayed the same, and one was lost to follow-up.

However, when activities of daily living, such as wheelchair mobility, walking and climbing mobility, ability to stand up and sit down, and ability to do self-care, were observed and patients were questioned, a different picture emerged. On these measures, only six people improved between 1989-90 and 1996, while 13 lost function.

The change in ability to do daily living activities correlated well with another measure the researchers used, known as "functional grade." The researchers found that 70 percent of patients lost function in the arms and/or legs by at least one grade over the six-year study period.

They concluded that functional testing with questioning about activity level may be a more accurate way of charting the course of limb-girdle dystrophies than straight muscle strength testing, although they recommended that both forms of testing be used.

The study is in the April 1997 Muscle & Nerve.

HOW TO DONATE TISSUE FOR RESEARCH

When a loved one has a serious illness, it can be hard to think about helping others. But donations of brain and other tissue are vital tools for researchers working on developing treatments for neurological and muscular disorders.

If you'd like to donate tissue from your body or that of your child, either from a biopsy specimen or after death, you can do so by contacting the University of Maryland or University of Miami Brain and Tissue Banks. These programs are funded by the National Institutes of Child Health and Human Development.

Your MDA clinic director has received detailed information about these programs, and you may wish to discuss your plans with him or her. You can also call the programs directly, using these numbers:

University of Maryland
Baltimore, Md.
(800) 847-1539
btbumab@umaryland.edu
http://medschool.umaryland.edu/btbank/gldisorders.html

University of Miami
Miami, Fla.
(800) 592-7246
btbcord@med.miami.edu
http://pathology.med.miami.edu/btb/

WOMEN WITH DISABILITIES AVOID GYN CARE

Many women with disabilities aren't getting regular gynecological services, says a recent survey by the YWCA's Networking Project for Young Adults with Disabilities.

The investigators questioned 142 women with disabilities, ranging in age from 18 to 79, and found a general reluctance to seek gynecological services. Thirty-seven percent of the youngest group -- those 35 and under -- had never been to a gynecologist.

Some of the women surveyed cited doctors' lack of knowledge of how to care for women with disabilities as the reason for not getting gynecological care, while others noted professionals' lack of acceptance of a disabled woman's need for birth control. Inaccessible offices and examining tables were also cited.

A report of the study, written by Judy Abel, is in the June 11, 1997, edition of the New York Post.