Diagnosing multiple sclerosis (MS) can be challenging because there is no one way to reach a proper diagnosis. A combination of symptoms, lab tests, and exams need to be measured against a specific set of criteria known as the McDonald criteria for doctors to reach a diagnosis.
Since many symptoms of MS can develop from other health conditions, diagnostic tools are also used to rule out other disorders while diagnosing MS. Diagnosing MS as early as possible is crucial to ensuring that a person with the disease has the best quality of life for as long as possible.
Types of MS and Symptoms
The central nervous system, which includes the brain and spinal cord, is made up of cells and nerves that deliver messages to and from the brain. MS develops when the immune system begins attacking the myelin sheath, the covering of nerve fibers. Multiple sclerosis is an autoimmune disease.
When myelin becomes damaged, it can form lesions, or scar tissue, that prevent the brain and body from communicating properly. In some cases, nerves can become permanently damaged.
There are four main types of MS, all of which have different symptoms and progression timelines. In some cases, a person can develop one type of MS and it will progress to another over time.
Clinically Isolated Syndrome (CIS)
Clinically isolated syndrome is defined by an isolated incident of inflammation and damage to the myelin sheath. It may be the first sign of MS.
CIS refers to a first episode of neurological symptoms that lasts at least 24 hours. Symptoms may include:1
Numbness or tingling
Vision problems
Stiff or weak muscles
Uncontrolled bladder or bowel movements
Issues with coordination or walking
Dizziness
Sexual dysfunction
Mild cognitive impairment
Relapsing-Remitting Multiple Sclerosis (RRMS)
RRMS occurs in flare-ups (when symptoms worsen) and relapses, meaning that the symptoms of the condition come and go sporadically. Between flare-ups, you have periods of recovery, or remissions. This type of MS is marked by relapses that last at least 24 hours. During a relapse, symptoms get worse. During a remission, symptoms partly or completely go away.2
As many as 85% of people with MS are diagnosed at this stage.3 The symptoms of RRMS are the same as those in CIS, but they come on more frequently. Other symptoms that can happen with RRMS include fatigue, sensitivity to heat, and depression.
How to Combat MS Fatigue
Primary Progressive Multiple Sclerosis (PPMS)
PPMS continues to worsen over time. There are no symptom flare-ups and no remissions. How fast the disease progresses may vary. There can be times when the condition is stable, and there can be periods of short-term minor improvements.4 About 10%–15% of people with MS have this type.5
People with PPMS have the same symptoms as those with CIS and RRMS. However, they can also have additional symptoms, such as:4
Chronic pain in the head, legs and feet, back, and muscles
Electric-shock sensations that run down the back and limbs when the neck is bent (Lhermitte's sign)
Paralysis
How Primary Progressive MS Is Diagnosed
Secondary Progressive Multiple Sclerosis (SPMS)
If the relapsing-remitting MS progresses to a point at which there are no discernible relapses and remissions, it has transitioned to secondary progressive MS. In this type, symptoms accumulate and worsen without any remission.
There may be periods in which symptoms are stable. Often an individual will describe a change in their abilities when comparing current to past function but cannot identify an episode that led to the worsening.5
Recap
There are four main types of MS: clinically isolated syndrome (CIS), relapsing-remitting MS (RRMS), primary progressive multiple sclerosis (PPMS), and secondary progressive multiple sclerosis (SPMS). Relapsing-remitting MS is the most common type, affecting 85% of people with multiple sclerosis.
Importance of Timely Diagnosis
Getting diagnosed with MS early can help you get treatment faster.6 This is important because your doctor will prescribe medications that can help reduce inflammation and slow disease progression once it's confirmed that you have MS.
The symptoms that occur with MS are similar to other diseases and disorders, so getting tested can help rule out any other health conditions or infections. Conditions that can mimic MS include:7
Viral or bacterial infections such as Lyme disease and human immunodeficiency virus (HIV)
Copper and vitamin B12 deficiencies
Brain tumors
Genetic disorders such as hereditary myelopathies
Inflammatory disorders such as Behçet’s disease and Sjögren’s syndrome
Tests
Your neurologist, a specialist in diseases and disorders of the nerves and nervous system, or other doctor will conduct a physical exam and ask about your symptoms. They will also order blood tests and imaging to rule out other conditions and diagnose MS.
Blood Tests
A blood test is used to help rule out conditions such as Lyme disease or other disorders that can be diagnosed with blood tests alone. The same goes for vitamin or mineral deficiencies.
MRI
Magnetic resonance imaging (MRI) uses radio waves and magnetic fields to get a clear picture of the inside of your body. Your doctor will order an MRI of the brain and spinal cord to look for demyelination, which is damage to the myelin sheath. If no other conditions are present and there is evidence of damage to the myelin, it’s likely that you have MS.
Everything You Need to Know About MRI for Multiple Sclerosis
Spinal Tap
A spinal tap, also known as a lumbar puncture, is done by inserting a needle into the low back and the spinal canal to collect a sample of cerebrospinal fluid (CSF). It can help determine the level of IgG antibodies, which are specialized proteins that bind to pathogens. In people with MS, IgG levels are often excessively high compared to those in people without the disease.8
The spinal tap also looks for a large number of white blood cells, which are immune cells, and proteins known as oligoclonal bands. Oligoclonal bands are also antibodies that can indicate the body is experiencing a long-lasting overreaction from the immune system. A higher count of oligoclonal bands can help diagnose MS.9
Roughly 5%–10% of people with MS will not have these abnormalities in their spinal fluid, though. That is why it is often used as a supplemental diagnostic tool.10
How Multiple Sclerosis Is Diagnosed
Evoked Potentials
Evoked potentials measure electrical activity in the brain and spinal cord by stimulating connections between the nerves in the body (nerve pathways) with sound, touch, or sight. The most common evoked potential use for MS is sight and can help the doctor determine if there are any problems along the optic nerve pathways, which connect the brain with the eyes.11
This test doesn’t determine if a person has MS on its own, but, in combination with other tests, it can help medical professionals reach a definitive diagnosis.
Cognitive Testing
Cognitive testing may be used to determine the level of damage to the brain. This type of testing is also used throughout a person’s life after they’ve been diagnosed with MS to keep track of disease progression, how well the treatment is working, and cognitive decline.12
Recap
There is no one test that can diagnose MS, but when blood and imaging tests are used together, they can help doctors determine if you have MS.
The McDonald Criteria
The McDonald criteria are the baseline for diagnosing MS. Recent updates were made in 2017 that changed the way MS is diagnosed. The McDonald criteria include one MS attack (a worsening of prior symptoms or brand-new symptoms that suddenly begin) and clinical evidence of one MS lesion, plus one criterion demonstrating dissemination in time and one criterion demonstrating dissemination in space.13
Disseminated in time means that there is damage on different dates. If evidence of damage is disseminated in space, that means the damage is present in two or more parts of the central nervous system.
Each type of MS will have different results, and that is why the McDonald criteria address several situations that could occur at various stages of the disease. The criteria also contain a set of unique circumstances that go with each criterion to further assist in diagnosing the disease.
Recap
The McDonald criteria require the results of the examinations and tests to determine if the diagnostic criteria set out are met. The criteria take into account the number of lesions and flare-ups you have.
Diagnosis Timelines
Since the diagnosis of MS typically relies on more than one test, as well as the pattern of each person’s disease, it can be hard to determine a timeline from when you first experience symptoms to when you are diagnosed. Often, it can take a few years for a person to be properly diagnosed if they have a progressive form of the disease.14
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After the Diagnosis
Following an MS diagnosis, treatment can begin. You will work with your neurologist to determine the best course of treatment for you.
Monitoring of MS is often done following diagnosis to help keep track of how the disease is progressing over time. This is often done through repeat MRIs.15 MS can be highly unpredictable, so it’s important to keep the lines of communication open with your physician, live as healthily as possible, and continue with your treatment as prescribed.
Recap
To manage your MS, you will have to continue to monitor how it's progressing and the ways it's affecting your health and life. To do this, your doctors will likely ask you for routine testing and checkups to measure the progression of the disease as well as the efficacy of your specific treatment.
Summary
Diagnosing MS can be difficult because there is no definitive way to tell if a person has it. Examining the results from an MRI, a spinal tap, blood tests, and evoked potentials (measurements of electrical activity in certain areas of the brain and spinal cord) against the McDonald criteria help doctors discern between MS and other diseases that can cause similar symptoms. Getting diagnosed early is vital for planning treatment and your future.
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