Overview
It is estimated that up to 400,000 people in the United States suffer from multiple sclerosis. It is caused by autoimmune destruction of the fatty layer of insulation (myelin sheath) around the nerve cells in the brain and spinal cord, resulting in the slowing or stopping of nerve signals along the affected nerves.
There is no defined cause of multiple sclerosis, as genetic, environmental, and viral causes have all been considered. Most commonly, the disease follows a 'relapsing-remitting' course, meaning patients will have acute 'flare-ups' or attacks, then periods of quiet remission. Almost every neurological system can be affected.
Symptoms
Most people experience their first symptoms of MS between the ages of 20 and 40; the initial symptom of MS is often blurred or double vision, red-green color distortion, or even blindness in one eye. Most MS patients experience muscle weakness in their extremities and difficulty with coordination and balance.
These symptoms may be severe enough to impair walking or even standing. In the worst cases, MS can produce partial or complete paralysis. Most people with MS also exhibit paresthesias, transitory abnormal sensory feelings such as numbness, prickling, or "pins and needles" sensations.
Some may also experience pain. Speech impediments, tremors, and dizziness are other frequent complaints. Occasionally, people with MS have hearing loss. Approximately half of all people with MS experience cognitive impairments such as difficulties with concentration, attention, memory, and poor judgment, but such symptoms are usually mild and are frequently overlooked. Depression is another common feature of MS.
Diagnosis
There is no single test that can diagnose multiple sclerosis on its own. Diagnosis can be made from neurological exams, eye exams, findings on a spinal tap, and characteristic plaques on MRI.
For a doctor to make a diagnosis of MS, he or she must have evidence of damage in at least two separate areas of the brain, spinal cord, or optic nerves, and this damage must have occured at least one month apart. In addition to these criteria, all other causes must be ruled out.
Medical History
The patient's medical history may provide enough evidence alone to cause a physician to suspect mulitple sclerosis, however this is not confirmatory. A careful physical exam that includes neurological tests (testing reflexes, eye movements, balance and walking tests) will also help point a physician in the right direction.
Magnetic Resonance Imaging (MRI)
MRI is the gold standard for discorvering and identifying the neurological damage (called plaques, lesions, or scarring). In addition to identifying and diagnosing the disease, MRI is used to keep track of how the disease is progressing, i.e. if the plaques are growing in size or location, or if they are staying the same size, or if new lesions are forming.
Evoked Potential Test
Evoked potential tests look at the speed at which nerves conduct information. They can be used to test the eyes, ears, or somatic muscles in the body. In multiple sclerosis, the most commonly used evoked potential test is the visual evoked potential (VEP). A patient will have electrodes attached to their head near the part of the brain that processes visual information. They will then look at visual patterns or light patterns and have the speed at which their eyes and brain process this information recorded. The delay in processing, also called latency, can help doctors figure out how the disease is progressing.
Body Fluids
As part of almost any diagnostic procedure for determining disease, blood will be taken and examined. In the case of multiple sclerosis, there are no definitive blood markers that would indicate the presence of the disease, but many similar diseases can be ruled out.
A sample of the cerebrospinal fluid can also be taken (commonly called a spinal tap). The cerebrospinal fluid may show the presence of proteins from the immune system called oligoclonal bands, which indicate that there is an immune response going on in the brain. These proteins are present in a large majority of MS patients, but not all.
Treatments
There is as yet no cure for MS. Many patients do well with no therapy at all, especially since many medications have serious side effects and some carry significant risks. However, three forms of beta interferon (Avonex, Betaseron, and Rebif) have now been approved by the Food and Drug Administration for treatment of relapsing-remitting MS. Beta interferon has been shown to reduce the number of exacerbations and may slow the progression of physical disability. When attacks do occur, they tend to be shorter and less severe. The FDA also has approved a synthetic form of myelin basic protein, called copolymer I (Copaxone), for the treatment of relapsing-remitting MS. Copolymer I has few side effects, and studies indicate that the agent can reduce the relapse rate by almost one third. An immunosuppressant treatment, Novantrone (mitoxantrone), is approved by the FDA for the treatment of advanced or chronic MS. The FDA has also approved dalfampridine (Ampyra) to improve walking in individuals with MS.
One monoclonal antibody, natalizumab (Tysabri), was shown in clinical trials to significantly reduce the frequency of attacks in people with relapsing forms of MS and was approved for marketing by the U.S. Food and Drug Administration (FDA) in 2004. However, in 2005 the drug’s manufacturer voluntarily suspended marketing of the drug after several reports of significant adverse events. In 2006, the FDA again approved sale of the drug for MS but under strict treatment guidelines involving infusion centers where patients can be monitored by specially trained physicians.
While steroids do not affect the course of MS over time, they can reduce the duration and severity of attacks in some patients. Spasticity, which can occur either as a sustained stiffness caused by increased muscle tone or as spasms that come and go, is usually treated with muscle relaxants and tranquilizers such as baclofen, tizanidine, diazepam, clonazepam, and dantrolene. Physical therapy and exercise can help preserve remaining function, and patients may find that various aids -- such as foot braces, canes, and walkers -- can help them remain independent and mobile. Avoiding excessive activity and avoiding heat are probably the most important measures patients can take to counter physiological fatigue. If psychological symptoms of fatigue such as depression or apathy are evident, antidepressant medications may help. Other drugs that may reduce fatigue in some, but not all, patients include amantadine (Symmetrel), pemoline (Cylert), and the still-experimental drug aminopyridine. Although improvement of optic symptoms usually occurs even without treatment, a short course of treatment with intravenous methylprednisolone (Solu-Medrol) followed by treatment with oral steroids is sometimes used.
Causes
Scientists have learned a great deal about MS in recent years; still, its cause remains elusive. Many investigators believe MS to be an autoimmune disease-one in which the body, through its immune system, launches a defensive attack against its own tissues. In the case of MS, it is the nerve-insulating myelin that comes under assault. Such assaults may be linked to an unknown environmental trigger, perhaps a virus.
Genetics is also believed to play a factor in the chances of developing MS. Some populations, such as Gypsies, Eskimos, and Bantus, never get MS. Native Indians of North and South America, the Japanese, and other Asian peoples have very low incidence rates. It is unclear whether this is due mostly to genetic or environmental factors In the population at large, the chance of developing MS is less than a tenth of one percent. However, if one person in a family has MS, that person's first-degree relatives-parents, children, and siblings-have a one to three percent chance of getting the disease.
Getting Help
The first place to go is your Doctors office. It is important to speak to your Doctor about your condition and discuss your options going forward.
There are a number of MS related non-profit organizations that can provide help and support in your journey with MS. Listed below are a few of these organizations:
- The Multiple Sclerosis Association of America is a national, non-profit organization dedicated to enhancing the quality of life for those affected by multiple sclerosis. MSAA provides ongoing support and direct services to individuals with MS and their families and works to promote a greater understanding of the needs and challenges of those who face physical obstacles.
- The Accelerated Cure Project is a national nonprofit organization dedicated to accelerating efforts toward a cure for MS. Researchers have access to online resources and the ACP Repository of highly characterized biosamples.
- The National Multiple Sclerosis Society funds research, helps families stay together, provides accurate and up-to-date information, helps with employment issues, offers free counseling, runs self-help groups, advocates for people with disabilities, and provides referrals to medical professionals.
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The Multiple Sclerosis Foundation is dedicated to helping people with MS, the Multiple Sclerosis Foundation offers a wide array of free services including: national toll-free support, educational programs, homecare services, support groups, assistive technology programs, publications, a comprehensive website, and more programs to improve the quality of life for those affected by MS.
Related Information
Many advances, on several fronts, have been made in the war against MS. Each advance interacts with the others, adding greater depth and meaning to each new discovery. Four areas, in particular, stand out.
Over the last decade, our knowledge about how the immune system works has grown at an amazing rate. Major gains have been made in recognizing and defining the role of this system in the development of MS lesions, giving scientists the ability to devise ways to alter the immune response. Such work is expected to yield a variety of new potential therapies that may ameliorate MS without harmful side effects.
New tools such as MRI have redefined the natural history of MS and are proving invaluable in monitoring disease activity. Scientists are now able to visualize and follow the development of MS lesions in the brain and spinal cord using MRI; this ability is a tremendous aid in the assessment of new therapies and can speed the process of evaluating new treatments.
Other tools have been developed that make the painstaking work of teasing out the disease's genetic secrets possible. Such studies have strengthened scientists' conviction that MS is a disease with many genetic components, none of which is dominant. Immune system-related genetic factors that predispose an individual to the development of MS have been identified, and may lead to new ways to treat or prevent the disease.
In fact, a treatment that may actually slow the course of the disease has been found and a growing number of therapies are now available that effectively treat some MS symptoms. In addition, there are a number of treatments under investigation that may curtail attacks or improve function of demyelinated nerve fibers. Over a dozen clinical trials testing potential therapies are under way, and additional new treatments are being devised and tested in animal models.
Living With
Consult with your Doctor before choosing any treatments for MS.
While some scientists look for therapies that will affect the overall course of the disease, others are searching for new and better medications to control the symptoms of MS without triggering intolerable side effects.
Many people with MS have problems with spasticity, a condition that primarily affects the lower limbs. Spasticity can occur either as a sustained stiffness caused by increased muscle tone or as spasms that come and go, especially at night. It is usually treated with muscle relaxants and tranquilizers. Baclofen (Lioresal), the most commonly prescribed medication for this symptom, may be taken orally or, in severe cases, injected into the spinal cord. Tizanidine (Zanaflex), used for years in Europe and now approved in the United States, appears to function similarly to baclofen. Diazepam (Valium), clonazepam (Klonopin), and dantrolene (Dantrium) can also reduce spasticity. Although its beneficial effect is temporary, physical therapy may also be useful and can help prevent the irreversible shortening of muscles known as contractures. Surgery to reduce spasticity is rarely appropriate in MS.
Weakness and ataxia (incoordination) are also characteristic of MS. When weakness is a problem, some spasticity can actually be beneficial by lending support to weak limbs. In such cases, medication levels that alleviate spasticity completely may be inappropriate. Physical therapy and exercise can also help preserve remaining function, and patients may find that various aids-such as foot braces, canes, and walkers-can help them remain independent and mobile. Occasionally, physicians can provide temporary relief from weakness, spasms, and pain by injecting a drug called phenol into the spinal cord, muscles, or nerves in the arms or legs. Further research is needed to find or develop effective treatments for MS-related weakness and ataxia.
Trouble with walking is a major problem in people with MS. The drug dalfampridine (Ampyra) may improve walking, and walking speeds, in these individuals.
Although improvement of optic symptoms usually occurs even without treatment, a short course of treatment with intravenous methylprednisolone (Solu-Medrol) followed by treatment with oral steroids is sometimes used. A trial of oral prednisone in patients with visual problems suggests that this steroid is not only ineffective in speeding recovery but may also increase patients' risk for future MS attacks. Curiously, prednisone injected directly into the veins-at ten times the oral dose-did seem to produce short-term recovery. Because of the link between optic neuritis and MS, the study's investigators believe these findings may hold true for the treatment of MS as well. A follow-up study of optic neuritis patients will address this and other questions.
Fatigue, especially in the legs, is a common symptom of MS and may be both physical and psychological. Avoiding excessive activity and heat are probably the most important measures patients can take to counter physiological fatigue. If psychological aspects of fatigue such as depression or apathy are evident, antidepressant medications may help. Other drugs that may reduce fatigue in some, but not all, patients include amantadine (Symmetrel), pemoline (Cylert), and the still-experimental drug aminopyridine.
People with MS may experience several types of pain. Muscle and back pain can be helped by aspirin or acetaminophen and physical therapy to correct faulty posture and strengthen and stretch muscles. The sharp, stabbing facial pain known as trigeminal neuralgia is commonly treated with carbamazepine or other anticonvulsant drugs or, occasionally, surgery. Intense tingling and burning sensations are harder to treat. Some people get relief with antidepressant drugs; others may respond to electrical stimulation of the nerves in the affected area. In some cases, the physician may recommend codeine.
As the disease progresses, some patients develop bladder malfunctions. Urinary problems are often the result of infections that can be treated with antibiotics. The physician may recommend that patients take vitamin C supplements or drink cranberry juice, as these measures acidify urine and may reduce the risk of further infections. Several medications are also available. The most common bladder problems encountered by MS patients are urinary frequency, urgency, or incontinence. A small number of patients, however, retain large amounts of urine. In these patients, catheterization may be necessary. In this procedure, a catheter or drainage tube is temporarily inserted (by the patient or a caretaker) into the urethra several times a day to drain urine from the bladder. Surgery may be indicated in severe, intractable cases. Scientists have developed a "bladder pacemaker" that has helped people with urinary incontinence in preliminary trials. The pacemaker, which is surgically implanted, is controlled by a hand-held unit that allows the patient to electrically stimulate the nerves that control bladder function.
MS patients with urinary problems may be reluctant to drink enough fluids, leading to constipation. Drinking more water and adding fiber to the diet usually alleviates this condition. Sexual dysfunction may also occur, especially in patients with urinary problems. Men may experience occasional failure to attain an erection. Penile implants, injection of the drug papaverine, and electrostimulation are techniques used to resolve the problem. Women may experience insufficient lubrication or have difficulty reaching orgasm; in these cases, vaginal gels and vibrating devices may be helpful. Counseling is also beneficial, especially in the absence of urinary problems, since psychological factors can also cause these symptoms. For instance, depression can intensify symptoms of fatigue, pain, and sexual dysfunction. In addition to counseling, the physician may prescribe antidepressant or antianxiety medications. Amitriptyline is used to treat laughing/weeping syndrome.
Tremors are often resistant to therapy, but can sometimes be treated with drugs or, in extreme cases, surgery. Investigators are currently examining a number of experimental treatments for tremor.
