University of Kentucky researchers are hoping Kentuckians' penchant for staying close to their roots might shed light on the cause of the neurological disease ALS.
While relatively rare, ALS is brutal. Patients generally live four to five years after diagnosis and are in a continual state of decline.
"The frustrating thing is that there is not an effective treatment for halting the progression of weakness," said Dr. Edward Kasarskis, left, director of the ALS center at the Kentucky Neuroscience Institute.
Also known as Lou Gehrig's disease, ALS stands for amyotrophic lateral sclerosis. It is a neurological disease that begins with muscle weakness in the limbs. For instance, someone might have difficulty walking up stairs or reaching something high on a shelf. The weakness continues "until the limb is completely useless," Kasarskis said.
Ultimately, he said, nearly all patients develop trouble with swallowing that keeps them from getting adequate nutrition and getting air in and out of the lungs. But, he said, "for most ALS patients their cognitive abilities remain perfect."
It's unclear what causes ALS. Most people are struck in middle age, and slightly more men than women are affected. It appears there might be a genetic component. And people with military service contract ALS at a higher rate than others, Kasarskis said.
The rarity of the disease makes diagnosis difficult. There is no blood test or imaging test to indicate definitively that a person has ALS. A family physician might encounter one ALS patient during his career. Often, Kasarskis said, diagnosis is a matter of "eliminating other causes for weakness, and we have many of them."
"The diagnostic process is usually fairly prolonged," he said, adding there are more than 200 diseases that create muscle weakness.
Research of the disease is under way across the globe. Most of the drugs being tested focus on stopping the degeneration of the body's motor neurons, which communicate the electrical impulses from the spine to the muscle fibers to make them work, he explained.
While there is no cure, multidisciplinary clinics such as the one at UK can offer patients support that can extend their lives through respiratory therapy, physical therapy and other means.
The ALS center at UK is conducting a study of environmental factors that could be related to the disease. The study, which has 114 people enrolled, is seeking 600 people who will record for researchers exactly where they have lived from the time of their birth.
Kentuckians, who often have fierce connections to ancestors and a tendency to stay close to where they were born, could add valuable information, Kasarskis said.
The Centers for Disease Control and Prevention also is collecting data on patients through the National ALS Registry.
For many patients, being a part of research or clinical trials helps them find some meaning in their disease. The man most closely associated with the disease, baseball great Lou Gehrig, was an example of that. When the Yankee first baseman no longer could play, he was appointed by the mayor of New York to work in the parole system. He performed did that until he was physically unable to contribute, Kasarskis said.
Many ALS patients "maintain an excellent quality of life with declining physical abilities," he said. "People retarget how they can make a contribution" in their lives.
There might never be "one magic pill to make everything all better all the time," Kasaraskis said. "It's a matter of slow progress and steady progress."