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History of the Diagnosis of MS...

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Behind the Diagnosis of MS

Diagnostic Basics

First, you need to understand that Multiple Sclerosis always was, AND STILL IS, mainly a clinical diagnosis.

The definition of "Clinical Diagnosis" is: A diagnosis that can be made on the basis of the history and the physical exam alone.  Yes, that means that in some cases, the diagnosis of MS can be made without using the MRI or other test at all.  However, nowadays this is unusual, but it points out clearly the need for a thorough history and physical at the beginning of the diagnostic process.  Many, if not most, of the clues to the disease will already  be there.

It is important that people know the difference between symptoms and signs.  Symptoms are those things felt by the patient and reported to the doctor.  Signs are those abnormalities on the physical exam that the doctor can objectively see and document.  So only those people with observable abnormalities on the exam would qualify for a clinical diagnosis.  A person who only has sensory problems and complains of numbness and tingling might not have an observable problem. 

In the case of Multiple Sclerosis, the process of making the diagnosis has grown to include what is called “para-clinical” information.  Para-clinical information includes imaging tests, most commonly the MRI, neuro-electrical studies like the Evoked Potentials, and lab studies like the analysis of the spinal fluid.

Finally, MS is a Diagnosis of Exclusion.  This means that, before the final diagnosis of MS can be given to the patient, all better reasons for the problems the patient has MUST be excluded.  There are many diseases whose symptoms, signs and lab results mimic Multiple Sclerosis.  It is only good medicine to check for these other diseases before settling on a diagnosis as serious as MS.  Many of the MS mimics can be treated effectively or cured so that is another reason to look hard for these.

A short history of the diagnosis of MS

The words "Multiple Sclerosis" mean "Many Scars." Before many tests were available to indicate MS, the disease was diagnosed by its characteristics. MS has a pattern--mainly the appearance and resolution of attacks of neurological symptoms, that over time, result in a person's becoming disabled. People would have more than one appearance of the disease and it always affected more than one part of, or system in, the body. The Relapsing Remitting pattern of MS was the main thing the doctors looked for. Doctors also knew that patients with this disorder often had elevated protein in their cerebrospinal fluid. And they knew that, eventually when the patient died, they would find the evidence of “multiple scars” when the brain and spinal cord were examined. They knew that transient attacks of blindness and eye pain could often be a part of MS, as could diffuse and varied abnormal sensations, balance problems, muscle weakness and spasticity. They knew of the fatigue and the intolerance to heat. In fact, a Dr. Uhthoff is famous for discovering that he could reproduce blindness in a person with MS who had optic neuritis by placing the person in a tub of hot water. This was a major diagnostic test used for MS until about three decades ago. The “Uhthoff Phenomenon" is often now referred to as the reproduction of ANY MS symptom on exposure to heat. The heat can be increased environmental heat, a fever, a hot shower or bath, or exercise.


So basically doctors had to use their own judgment in making the diagnosis. They had the patient's history, the neurologic exam, spinal tap, and the "Hot Bath test." It was an inexact science. They both diagnosed people who didn’t have MS and, obviously, missed people who did. It made little difference because there was no treatment to change the course of the disease. The milder forms of the disease often escaped diagnosis and the worst were usually diagnosed. Thus, the disease appeared to be far worse than it really was, because the world saw mainly the most disabled with the diagnosis of MS. Its reputation was that of a death sentence and it was feared like leprosy!

In 1965 the first attempt was made to provide doctors with a structure in making the diagnosis of MS.  This was called the Schumacher Criteria, and it was actually very simple. The patient needed to have evidence of what was called dissemination (or spread) of the disease BOTH in time (6 months or more) and in space (different body parts). Subsequent attacks had to involve different parts of the body. This simply meant evidence of more than one attack and indication that the brain or spine had to have been injured in more than one place with at least two of the injuries happening at different times. This requirement for definite diagnosis of Relapsing Remitting MS remains today.

There were other criteria. One was an age range (now abandoned) of the disease occurring between 10 and 50 years. Another was objective neurologic findings on physical exam. These two criteria were looser. One could substitute for the other.

The final criterion is one that has continued to the present time. It is very important! I mentioned it earlier. There must be no better or more reasonable explanation for the patient's symptoms and problems. This makes the diagnosis of Multiple Sclerosis also a DIAGNOSIS OF EXCLUSION. You have to exclude other possible, reasonable causes for the patient’s symptoms and findings. This is done mainly by the use of blood tests. Examples of diseases that mimic MS are syphilis, B12 deficiency, lupus, other autoimmune diseases, HIV, other brain infections, and disorders that make the patient susceptible to strokes, such as blood that clots too easily.

By 1983, there had been a great explosion in the capability to use laboratory tests and imaging techniques to diagnose neurological diseases. The Poser Criteria of 1983 kept the original requirement of Disease Dissemination in Time and Space, but allowed for the use of the newly available tests to document new CNS lesions that might not have expressed themselves in symptoms.  The age range and limitations were thrown out as testing was proving that MS can occur at younger and MUCH older ages. Currently the disease has been documented as early as 18 months of age and beginning as early as age 78.

Some of these tests that were now available were:

  • CSF protein, CSF IgG (antibody) studies and Oligoclonal Banding (also an antibody test)
  • MRI and other neuroimaging
  • Evoked Potentials testing of eyes, ears, and sensory nerves of the body

The Poser Criteria categorized Multiple Sclerosis into four categories that we still hear today - on the forums and from neurologists who have not kept up with current thinking and research- but this usage is outdated. The Poser categories of MS were: Clinically Definite, Clinically Probable, Laboratory-Supported Clinically Definite, and Laboratory-Supported Clinically Probable. These criteria were good for research purposes, but were not for determining prognosis, they gave no help in advising patients about what lay before them. And over the next several years doctors found the Poser rules had other problems.  There was no agreement on exactly how to interpret the MRI’s, and there was no way to use the MRIs to diagnose Primary Progressive Multiple Sclerosis.

In 2001 and international panel of experts formulated the basis of the rules we use today, the McDonald Criteria.  These changed the categories of MS diagnosis to "Definite MS",  "Probable MS." and "Not MS." After these rules were in use for a few years, the McDonald Criteria were found to be useful, but many neurologists felt they were unnecessarily rigid in the "counting" of MRI lesions. At the same time, there had been a change in medical science's ability to treat MS, with the development of the Disease Modifying Drugs (DMDs).  Also, evidence was becoming conclusive that very early treatment of people of people who were likely to have  was the most effective in the earliest stages of MS.   The goal, of course, was to slow the progression of the disease, or even to delay its "definite" appearance.  In 2005 the revised McDonald Criteria were agreed upon, and these are what are used today to guide the diagnosis of MS.  The revised guidelines are simpler and allow for the early treatment of people who are "highly likely" to have MS or to develop it in the near future, but who do not completely fulfill the 2005 Criteria.  These are people who have had one clear attack and other positive findings on testing - a situation called "Clinically Isolated Syndrome" or CIS.

The McDonald Criteria, both original and revised, acknowledged the possibility of diagnosing MS on the basis of the patient's history and physical exam alone.  Again, this was further acknowledgment that the diagnosis of MS can be solely a clinical one.  It also acknowledges that the information in the History and Neurological Exam are of critical importance.  Sometimes here on the forum it seems that doctors forget this very concept and focus entirely on the MRI and lab tests.

An example of how the diagnosis of MS "could" be made without an MRI or other testing might be like this:  A person has an attack of eye pain and loss of some vision.  The attack lasts maybe a couple of weeks and the eye doctor sees signs of Optic Neuritis (ON) when they look in the patients eye.  The person sees a neurologist and, apart from the visual problem the neuro exam is normal.  Gradually the vision and the eye pain return to normal.   Six months later, the person suddenly begins having problems over a couple days  with weakness in the right leg.  The neurologist does a neuro exam. On this exam the patient now has markedly hyperactive reflexes at the R knee and R ankle.  His reflexes were normal on the first exam.  Hyperactive reflexes indicate spinal cord disease.  The neurologist runs all the blood tests for other possible causes of the Optic Neuritis and for the weakness and hyperreflexia, and those tests are normal.  Based on two factors---the first attack, which had a positive physical finding of inflammation of the optic nerve which ultimately improved or "remitted," and a second attack, showing the objective finding of pathologically increased reflexes indicating a lesion in another place--the neurologist is able to make a firm diagnosis of MS, once all other reasonable possibilities have been ruled out.

In reality, this scenario would rarely happen in developed countries without ordering an MRI to use as a baseline.  According the guidelines of diagnosis, this MRI would not have to be positive in order for the neurologist to be confident the person has MS.  However, it takes a smart and very confident neurologist, usually an MS Specialist, to diagnose MS with a normal MRI.  It does happen, though.

Sometimes the diagnosis is really this easy.  Many times it is not. 



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