Causes of Multiple Sclerosis
Brain
Optic Nerve
Spinal Cord
The initial trigger for development of MS is unknown, but it is likely a complex interaction of genetic susceptibility, environmental exposure, and other factors. Once the disease is established, it continues of its own accord, driven by the immune system’s attack on healthy tissue. MS is widely accepted as being an autoimmune disease, one in which the immune system attacks the nerve-insulating myelin that coats nerve fibers and enables them to function normally. The damage caused by MS results from inflammation in the brain, optic nerves, or spinal cord (collectively the central nervous system, CNS).
Symptoms of MS
Cognitive Impairments
Depression
Vision Problems
Heat Sensitivity
Bladder Dysfunction
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Cognitive Impairments
Difficulties with concentration, attention, memory and poor judgment are experienced by approximately half of all people with MS, but such symptoms are frequently overlooked. These can cause difficulties at work and are a major contributor to lost employment. -
Depression
This is the most common emotional disorder affecting MS patients. Depression is either caused by the symptoms and uncertainty of MS, or it can be caused directly by MS itself. Most cases of MS-related depression respond to treatment the same way depression does in the general population. -
Vision Problems
These are often an early sign of MS. They are the first symptom for approximately 15 percent of patients. This can be experienced as blurred vision, diminished color vision (especially for red), or even blindness in one eye. -
Heat Sensitivity
In about 60 percent of MS patients, heat, whether generated by temperatures outside the body or by exercise, may cause temporary worsening of many MS symptoms. In these cases, eradicating the heat eliminates the problem. -
Fatigue
This is the most common symptom reported by MS patients. Fatigue can take the form of muscles that weaken rapidly with activity, a lack of energy to complete the day's activities or a persistent desire to sleep or rest. It is seen in up to 80 percent of patients. -
Bladder Dysfunction
This is seen in more than 80 percent of people with MS. Problems with bowel function and sexual function can also be caused by MS. -
Numbness or Tingling
A numb or tingling feeling in the face, body, arms, or legs is a common first sign of MS in many patients who are eventually diagnosed with the disease.
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Relapses
The younger the patient, the more likely MS will begin with a series of relapses. Also referred to as attacks, bouts, flare-ups or exacerbations, relapses tend to develop over hours to days, sometimes taking weeks to reach maximum severity. In most cases, the symptoms will begin to improve on their own, sometimes resolving completely, and at other times leaving an individual with residual neurological symptoms that may not ever go away.
Over time, repeated relapses can lead to increasing disability. The development of disease-modifying therapies has led to reduced numbers of relapses in most patients and decreased disability over time. Increasing evidence supports starting a disease-modifying therapy soon after a diagnosis is made, to lessen the long-term impacts of MS. -
Progressive MS
A minority of MS patients may experience "progressive" symptoms instead of relapses at the onset of their disease. Progressive symptoms develop much more slowly (over months to years) with little to no improvement over time. Patients with progressive-onset MS tend to be in their 40s or older.
Diagnosis
There is no single test that unequivocally detects MS. When faced with a patient whose symptoms, neurological exam results and medical history suggest MS, physicians use a variety of tools to look for evidence of MS disease activity while also performing a series of lab tests to rule out other disorders that can mimic MS. To diagnose MS, three major criteria must be satisfied:
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Evidence of MS damage in at least two distinct locations in the central nervous system.
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Evidence that MS-like damage has occurred at two or more separate points in time.
3
Other diseases that may mimic or resemble MS must be ruled out with appropriate laboratory or other investigations.
Primary Testing Tools
MRI
Evidence of MS damage: MRI scans have become the most useful tool for visualizing the damage caused by MS. MRI provides the physician with detailed pictures of the brain and spinal cord, including the lesions caused by MS inflammation. The MRI can, in some instances, also tell the physician if the lesions have recently formed or if they have been present for some time. MRI has vastly shortened the time it takes to make an MS diagnosis. With MRI, many patients are now diagnosed after their first relapse. This has led to earlier diagnosis and initiation of disease modifying treatment for many MS patients.
VEP
Visual evoked potentials (VEP) tests measure the speed of the brain’s response to visual stimuli. They can sometimes detect lesions missed on MRI; they are particularly useful when abnormalities seen on MRI do not fully satisfy the criteria for MS. It is not conclusive, however. Like imaging technologies, VEP cannot identify the cause of lesions, only establish that they are there.
Cerebrospinal Fluid
Examination of cerebrospinal fluid can show cellular and chemical abnormalities often associated with MS. These include increased numbers of white blood cells and higher-than-average amounts of protein, especially myelin basic protein and an antibody called immunoglobulin G. Physicians can use several different laboratory techniques to separate and measure the various proteins in MS patients’ cerebrospinal fluid. This process often identifies the presence of a characteristic pattern called oligoclonal bands.
Ruling Out Simliar Diseases
A number of other diseases may produce symptoms similar to those seen in MS. Other conditions with an intermittent course and MS-like lesions of the brain’s white matter include polyarteritis, lupus erythematosus, syringomyelia, tropical spastic paraparesis, some cancers, and certain tumors that compress the brainstem or spinal cord. Progressive multifocal leukoencephalopathy can mimic the acute stage of an MS attack. Physicians may also consider stroke, neurosyphilis, spinocerebellar ataxias, pernicious anemia, diabetes, Sjogren’s disease, and vitamin B12 deficiency, depending on the patient. Recent reports suggest that the neurological problems associated with Lyme disease may present a clinical picture much like MS. While it can still be difficult for the physician to differentiate between an MS attack and symptoms that can follow a viral infection or even an immunization, our growing understanding of disease mechanisms and the expanded use of MRI is enabling physicians to diagnose MS with more confidence than ever before. Today, most patients who undergo a diagnostic evaluation for MS will be classified as either having MS or not having MS. However, there are still cases where a person may have the clinical symptoms of MS but not meet all the criteria. In these cases, a diagnosis of “possible MS” is used.
Searching for a Definitive Test for MS
Investigators are continuing their search for a definitive test for MS. Research using MRI has yielded several new imaging approaches which may detect the disease earlier and in greater detail than can be done with current standard imaging methods. While these techniques are not yet in use in a widespread basis, in the future they may become commonplace in clinical practice. While standard MRI provides an anatomical picture of lesions, magnetic resonance spectroscopy (MRS) yields information about the brain’s biochemistry; specifically, it can measure the brain chemical N-acetyl aspartate. Decreased levels of this chemical can indicate nerve damage. Magnetization transfer imaging (MTI) is able to detect white matter abnormalities before lesions can be seen on standard MRI scans by calculating the amount of “free” water in tissues. Demyelinated tissues and damaged nerves show increased levels of free (versus “bound”) water particles. Diffusion-tensor magnetic resonance imaging (DT-MRI or DTI) measures the random motion of water molecules. Individual water molecules are constantly in motion, colliding with each other at extremely high speeds. This causes them to spread out, or diffuse. DT-MRI maps this diffusion to produce intricate, three-dimensional images indicating the size and location of demyelinated areas of the brain. Changes in this process can then be measured and correlated with disease progression. Functional MRI (fMRI) uses radio waves and a strong magnetic field to measures the correlation between physical changes in the brain (such as blood flow) and mental functioning during the performance of cognitive tasks. In addition to helping scientists and physicians better understand how MS develops-an important first step in devising new treatments-these approaches offer earlier diagnosis and enhance efforts to monitor disease progression and the effects of treatment.
Treatment
There are a number of unique medications that have been approved to treat relapsing forms of MS in the United States. The UAB MS & Neuroimmunology Clinic prescribes all FDA-approved medications available for the treatment of MS, and participates in ongoing clinical trials regarding available medications and/or potential new treatments.
Oral
- Aubagio (teriflunomide)
- Tecfidera (dimethyl fumarate)
- Gilenya (fingolimod)
Injection
- Avonex (interferon beta-1a)
- Betaseron (interferon beta-lb)
- Extavia (interferon beta-lb) (Generic Betaseron)
- Rebif (interferon beta-la)
- Copaxone (glatiramer acetate)
- Glatopa (glatiramer acetate) (Generic 20 mg dose Copaxone)
- Plegridy (peginterferon beta-la)
Infusion
- Tysabri (natalizumab)
- Novantrone (mitoxantrone)
- Lemtrada (aletuzumab)
- Ocrevus (ocrelizumab)
More information on available medications and considerations can be found on the US Food and Drug Administration (FDA) website. Treatment options should always be discussed with the treating physician in considering the most appropriate options for each individual treatment plan.
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Neuromyelitis Optica treatments
As Neuromyelitis Optica (NMO) has only been recognized as its own disease since the late 1990s and is not a common disease, no randomized trials have been performed to evaluate the most effective treatment. Therefore, there are no FDA-approved medications for this disease.
However, multiple groups of patients who have been treated with immunosuppressing medications have had notable improvement. Commonly used medications for this diagnosis include, among others: azathioprine (Imuran), rituximab (Rituxan) and mycophenolate mofetil (CellCept).
The choice of when to start treatment in this disease is a joint decision made by our patients and treating physicians. As NMO can be quite disabling, this disease is often treated more aggressively with therapies carrying potential serious side effects to best prevent disability in the future. -
Relapse treatments
Many of the diseases we treat, such as RMS and NMO, will cause periods of relapses when new symptoms emerge and can be quite disabling.
We typically treat significant relapses with steroids. Severe relapses that result in significant disability may require hospital admission, rehabilitation or, rarely, a procedure called plasma exchange. This procedure is similar to dialysis and involves removing the proteins in your blood to speed up and improve your recovery. -
UAB Infusion Center
We have two infusion suites through the UAB system that offer excellent and knowledgeable staff to infuse various medications we may use to treat our patients. One infusion center is located in the Kirklin Clinic and the other is located in Jefferson Tower. Both infusion centers feature state-of-the-art equipment and friendly, highly-qualified staff to ensure that you have the best experience possible during your infusion.
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UAB Spain Rehabilitation Center
Our onsite Spain Rehabilitation Center (SRC) offers cutting-edge therapies in rehabilitation and physical medicine. SRC is always searching for new and effective ways to help patients with some form of impairment. The UAB Constraint-Induced Movement Therapy Research Programs and Clinic, directed by Dr. Victor Mark, utilizes a technique called Constraint Induced Therapy, which seems to be very beneficial to stroke patients and patients with MS. We also have very capable physical therapists and occupational therapists who assist our patients with everything from exercise routines to wheelchair fitting and assessment.
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Managing disease complications
Many complications can arise from MS, NMO and the other diseases that we treat. These often result in difficulty with muscle spasms, bladder or bowel dysfunction, vision impairment, fatigue, depression or cognitive impairment. We have virtually every specialist needed to address each of these complications available to us through the UAB system.