How is multiple sclerosis diagnosed?

Multiple sclerosis (MS) is diagnosed by a combination of the right clinical history and examination with supportive evidence from magnetic resonance imaging (MRI), spinal fluid examination, and other studies such as evoked potentials. There should be no better explanation for the person's symptoms. As the importance of early therapy for MS becomes more apparent, there has been a push for early diagnosis.

To diagnose MS, one must show dissemination in time and space of neurological events whether they are clinical events or lesions on MRI. These new proposed guidelines offer the possibility of using a single MRI to fulfill those criteria. If the brain MRI shows lesions with and without active inflammation (enhancement) this would demonstrate dissemination in time and space.

Neurologists analyze information in two stages. First they discern where the problem is. Then they must consider what all the causes of disease are in that location. When several locations are involved, the list of possible diagnoses narrows.

To diagnose multiple sclerosis, the neurological evaluation must satisfy two clinical criteria: first, a course of attacks and remissions, and second, findings (either from the neurological examination or the patient's history) that suggest lesions in at least two of the main sites of the central nervous system - spinal cord, brain stem-cerebellum, optic nerve, or cerebrum.

The success of a diagnosis is, of course, highly dependent on the doctor's skill in observing and soliciting an accurate description of history and symptoms. The history begins with the present illness - when and how did it start? It's important to discuss each symptom - if it disappeared and when, if it still persists, if symptoms vary during the day, if it's constant or intermittent, what provides relief, if it's affected by heat from exercise or a hot bath, and so on. Then the patient's past history must be carefully reviewed, taking in any illnesses, injuries, operations, allergies, medications, pregnancies, or alcohol or drug abuse. The neurologist might also take a history from a parent, husband, wife, or other close family member. The family history will include serious medical problems, causes of death, and any other neurological disorders in parents, brothers, sisters, and children. The visit to the neurologist, including the history taking and neurological examination can take up to two hours. (It should be remembered that the neurologist may also suspect a stroke, a tumor, an adverse reaction to medication, or some other problem.)

Diagnosis of multiple sclerosis (MS) involves taking a family history and a history of symptoms, and performing a physical examination (including neurological examination) and various tests (including blood tests and imaging tests).

• Blood tests: Many blood tests may be used to determine if MS is present. They include a complete blood count (CBC), liver function tests, testing for Lyme disease, a creatine kinase test, and a DNA analysis (to determine if the disorder is genetic) among others. In some cases, a cerebrospinal fluid (CSF) analysis also is performed.
• Cerebrospinal fluid analysis involves performing a spinal tap or lumbar puncture. In this procedure, about two tablespoons of cerebrospinal fluid is drawn into a needle inserted between two lumbar vertebrae and then examined under a microscope. In cases of MS, the doctor may see an elevation of protein and white blood cells in the cerebrospinal fluid.This procedure is usually performed in a hospital or clinic under local anesthesia, although general anesthesia can be used.
• Imaging tests: Imaging tests, including computed tomography (CT scan), magnetic resonance imaging (MRI scan), and positron emission tomography (PET scan), may be used to detect damage (such as shrinkage) in the basal ganglia, structural abnormalities, and stroke (neurological damage due to a lack of oxygen to the brain).
• Evoked potential tests: Evoked potentials are electrical signals generated by the nervous system in response to stimuli. Evoked potential tests (including somatosensory evoked potentials, visual evoked potentials, and brainstem auditory evoked potentials) are performed to evaluate sensory, visual, and auditory functions and detect slowed nerve impulse conduction caused by demyelination. In these tests, nerves responsible for each type of function are stimulated electronically and responses are recorded using electrodes placed over the CNS (brain and spine) and peripheral nerves (including the median nerve in the wrist and the peroneal nerve in the knee).

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If you suspect you may have multiple sclerosis (MS), it is important to begin tracking your symptoms as soon as you start to experience them, and then make an appointment to discuss your symptoms with your doctor. Many people with MS find that their symptoms come and go, whereas others have a gradual worsening of their symptoms.

Your doctor will use the symptom information you supply, as well as results from any diagnostic tests performed, such as magnetic resonance imaging (MRI), to support or rule out a diagnosis of MS.

The symptom information you provide and your test results may also help to rule out or diagnose other similar conditions for which MS is often confused. Chronic fatigue syndrome, encephalomyelitis, lupus erythematosus, Lyme disease, syphilis, color blindness, and vitamin B12 deficiency are just a handful of the conditions that could be mistaken for MS.

Misdiagnosis of MS, when the condition is diagnosed but not present, is also common. In a study, 5%-10% of patients were told they had MS when the disease was not actually present.

Although any doctor can diagnose MS, neurologists are health professionals who specialize in the diagnosis and treatment of nerve-related diseases such as MS.

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Diagnosing multiple sclerosis (MS) isn't always easy and in some cases may take time.

Your medical history and neurological exam can identify possible nervous system problems and are often enough to strongly suggest a diagnosis of MS. Tests may help confirm or rule out the diagnosis when your history and exam do not provide clear evidence of the disease. Magnetic resonance imaging (MRI) and neurological exam may help doctors predict which people will develop MS after a first attack of symptoms.

Tests to diagnose MS:

• MRI of the brain and spinal cord. This test is done to confirm a diagnosis.
• Lumbar puncture (sometimes called a spinal tap). This test may be done to evaluate cerebrospinal fluid. Most people with MS have abnormal results on this test.
• Evoked potential testing. This test can often reveal abnormalities in the brain and spinal cord and in the optic nerves of the eyes that other tests may not detect.

Confirming the diagnosis: MS is diagnosed when it is clear from neurological tests and a neurological exam that lesions (damaged areas) are present in more than one area of the central nervous system (usually the brain, spinal cord or the nerves to the eyes). Tests will also clearly show that damage has occurred at more than one point in time.

Some people have had only one episode of a neurological symptom such as optic neuritis, but MRI tests suggest they may have MS. This is known as a clinically isolated syndrome. Many of these people go on to develop MS over time.

Tests to diagnose other health problems: Urinary tract tests may be needed to help diagnose a problem with bladder control in a person who has MS.

Neuropsychological tests may be needed to identify thinking or emotional problems, which may be present without the person being aware of them. Typically, these tests are in a question-and-answer format.

A blood test for JC virus antibodies may be done if you are being treated with or plan to be treated with natalizumab (Tysabri). This test can help you and your doctor understand your risk for getting a rare but serious brain infection called PML (progressive multifocal leukoencephalopathy).