MS, Part 1: Diagnosis Difficult, Cause Unknown

Multiple Sclerosis, or MS, is an unpredictable inflammatory disease of the central nervous system with no known cause, no definitive diagnostic test, and varied and often vague symptoms that mimic other health problems - all of which can cause MS sufferers and their families to feel frustrated, anxious and, at times, depressed.

"The disease is unique for each patient," says Cheryl Blaschuk, RN, MSN, FNP, a board-certified Nurse Practitioner with the International Organization of Multiple Sclerosis Nurses. "Patients present with a variety of symptoms, and there is no single, specific test that identifies the disease, and no way to predict the course of the disease."

Why Diagnosis Is So Difficult
"Patients experience a variety of symptoms," Blaschuk says. "Vision loss or change is quite often a first sign, but unusual fatigue is quite common. It could also be numbness or weakness, dizziness, and even paralysis, although that is rare. That's why we first have to rule out other neurological conditions, such as stroke, brain tumor and a slew of other possible causes." Some MS patients experience spasticity, especially in the lower limbs; or ataxia, a lack of coordination; or bladder and bowel problems.

Patients seeking medical help for these symptoms face a series of tests to rule out other conditions first, she says. "They include an MRI of their brain and possibly the cervical and thoracic regions if needed, blood tests, a physical exam, a neurological exam and other neurodiagnostic studies. We used to do spinal taps fairly often, but they're used a lot less today. MS is rarely diagnosed on the first visit. It's a long workup."

Blaschuk has extensive experience in caring for patients with chronic illness. She works out of the Multiple Sclerosis Clinic, part of the Froedtert & The Medical College of Wisconsin Neuroscience Center with Lea H. Rayman, MD, an Assistant Professor of Neurology who specializes in the diagnosis and treatment of MS and similar diseases.

MS can range from relatively benign to somewhat disabling to devastating, as communication between the brain and other parts of the body is disrupted. And because MS is so difficult to diagnose, no one knows exactly how many people have it. The National Institute of Neurological Disorders and Stroke (NINDS) estimates that between 250,000 and 350,000 people in the United States have been diagnosed by a physician as having MS, which suggests that approximately 200 new cases are diagnosed each week.

Women, Northerners More Likely to Be Affected
Usually, the first symptoms of MS appear when people are between the ages of 20 and 40, but it can now also be diagnosed in adolescents and in adults over 50, Blaschuk says. Whites are more than twice as likely as other races to develop MS. In general, women are affected at almost twice the rate of men; however, among patients who develop the symptoms of MS at a later age, the gender ratio is more evenly balanced.

MS is five times more prevalent in temperate climates such as the northern United States, Canada, and Europe, than in tropical regions. It is worth noting that those born in warm climates but move to cooler areas seem to retain the risk of the area where they grew up - provided they lived in the warmer area up to the age of 15. Conversely, some studies indicate that a person moving from a high-risk (temperate) to a low-risk (tropical) area before the age of 15 tends to adopt the risk (in this case, low) of the new area.

Four Patterns
The course the disease takes varies among individuals, and currently it's impossible to tell a patient what to expect, Blaschuk says. Practitioners divide MS into four categories or patterns:

• Relapsing-remitting (RR) is the most common, affecting 85% of patients. RR patients may have a neurological event, and then recover entirely or partially for a while before the cycle repeats. Because such a large cohort of patients experiences this pattern, most treatments are geared toward slowing recurrence and easing inflammation during a flare.
• Primary-progressive (PP) MS is characterized by a gradual clinical decline with no distinct remissions, although there may be temporary plateaus or minor relief from symptoms. About 10% of patients have this type of MS, Blaschuk says.
• Progressive-relapsing (PR) MS affects about 5% of patients. This progressive form of MS is marked by relapses superimposed on an overall gradual clinical decline with new symptoms. Thus, it is unlike PP, which typically is limited to one symptom that gradually worsens.
• Secondary progressive (SP) affects about 30% of patients with the RR type of MS. Secondary progressive disease begins as RR and transitions into a gradual clinical decline. "After 10 years with RR, about 1 in 2 patients have SP," Blaschuk says.

Causes Are Unclear
In searching for a cause, scientists have been exploring whether such factors as genetics, environment, or viral infections are implicated. The prevailing view today is that MS is an autoimmune disease, one in which the patient's body attacks its own tissues. In the case of MS, it is the myelin - a tissue that insulates nerves - that comes under assault.

MS is almost never fatal. "'It won't kill you,' I tell my patients," Blaschuk says, "'but your activities may be altered. You can still live your life, with some modifications. And if you don't take care of yourself, this disease will be harder to manage'"

As with arthritis and fibromyalgia, patients with MS feel better if they keep as active as possible to help control their disability. "Physical activity can decrease spasticity, depression, fatigue, bowel and bladder symptoms, and improve sleep," Blaschuk says.

Medical College Research
At the Medical College, current studies with MS patients involve stem cell transplantation in progressive MS, fMRI, and magnetization transfer imaging. Stephen J. Rao, PhD, and Julie Bobholz, PhD, are conducting research into the cognitive effects of MS. Dr. Bobholz, an Assistant Professor of Neurology and a neuropsychologist, evaluate patients for the cognitive deficits associated with multiple sclerosis. Physical, Occupational and Speech Therapists at Froedtert & The Medical College also evaluate and treat patients, as do specialists from Urology and Physical Medicine and Rehabilitation. Dr. Rao, a Professor of Neurology and Neuropsychology at the Medical College, is Director of the Functional Imaging Research Center.

Barbara Abel
HealthLink Contributing Writer

See the May 1, 2006 issue of HealthLink to read the second section of this two-part article: MS, Part 2: New Treatments Improve Quality of Life.

"Reflections" is a collection of essays by the health professionals of the Medical College of Wisconsin.