33,000 Australians live with Multiple Sclerosis – learn the symptoms and path to diagnosis

World MS Day takes place on 30 May each year with the goal to increase awareness and understanding of the condition.

This year, the World MS team are advocating for earlier and more accurate diagnosis for patients with their “My MS Diagnosis” campaign.

It is vital to highlight the unique challenges that patients and healthcare workers face in rural communities in both diagnosing and managing MS. In comparison to urban settings, there can be challenges with access to specialists, investigations and treatment options.

This is why it’s so important to increase education and awareness around MS. An earlier diagnosis can lead to prompt treatment as well as counselling and support for individuals and their family. It can improve outcomes and quality of life for people with MS.

What is MS?

Multiple Sclerosis (MS) is a complex neurological condition which affects the brain, spinal cord and optic nerve which makes up our Central Nervous System.

MS is an autoimmune condition where the body attacks itself leading to the destruction of a fatty tissue called Myelin.

This tissue surrounds all the nerves in our body as a protective layer and the resulting damage leads to an interruption in the signals to and from our brain. The disruption to this signal – the process of which is called demyelination – means that the brain can no longer ‘talk’ to the nerves causing a range of different symptoms, depending on which nerves are affected.

• It is estimated that 33,000 Australians live with MS.

• The most common age of diagnosis is between 20-40 year’s old with women being three times more likely than men to be diagnosed. This makes it the most commonly acquired neurological condition among this age group.

• There are 3 main sub-types of MS: relapsing remitting MS, secondary progressive MS and primary progressive MS.

• The treatment options for MS depends on whether the condition is considered “active” or “inactive”.

What are the risk factors of MS?

It is not known exactly what triggers the autoimmune process in MS.

However, several risk factors have been identified. These risk factors have been shown to increase the likelihood of developing MS in susceptible individuals as well as being linked to more severe symptoms and disease progression.

Some risk factors for MS include (but are not limited to):

• Genetics: no one single gene has been identified as a cause of MS, however there are 110 known genetic factors that contribute.

• Gender: women in Australia are three times more likely than men to be diagnosed with MS, a phenomenon that has been witnessed in other countries around the world.

• Smoking: people who smoke have been found in some studies to be twice as likely to develop MS. In individuals that have been diagnosed with MS, smoking has been linked to disease progression and worsening symptoms.

• Vitamin D deficiency: several studies have linked low levels of vitamin D with potentially playing a role in the development of MS. Research into this theory, and the role of prophylactic Vitamin D supplements is still ongoing.

There is still a considerable amount that we do not know about MS.

It is a complex disease that varies considerably between individuals. It is likely a multifactorial disease with both genetic predisposition and environmental factors contributing to the development of MS.

As research continues, we hope to gain a better understanding of these factors to lead to new and effective methods of diagnosis and treatment options.

What are the symptoms of MS?

The autoimmune process involved in MS can affect different parts of the brain and spinal cord in different people.

This means that symptoms can vary and are largely unpredictable with no one symptom consistent between two people.

Symptoms can also fluctuate and progress over time. For example, people with MS may have periods of time where they have minimal or no symptoms, where the condition may be called ‘inactive’.

Recurrence of symptoms or development of new ones are called ‘relapses’ and indicate the disease being ‘active’.

Common symptoms among individuals with MS include fatigue, bladder and bowel dysfunction, cognitive changes, dizziness and muscle weakness. It’s quite common for symptoms to get worse over the course of a day. So even if you have limited symptoms in a morning, they can increase as the day progresses.

People with MS can also experience a range of sensory symptoms, walking difficulties, spasticity and spasm which are described in more detail below.

Sensory Symptoms:
People with MS can experience numbness, tingling, pins and needles, a burning sensation and itching. These symptoms can be experienced anywhere in the body.

Experiencing numbness can lead to difficulty carrying out day to day activities if they affect areas like our hands and feet.

Walking Difficulties:
Problems with balance and walking, sometimes referred to as a person’s gait, are common in people with MS. “Ataxia” presents as a lack of co-ordination in muscle movements that can cause an unsteady gait, impaired eye and limb movement, speech problems and dizziness.

It occurs in individuals whose MS has affected the part of the brain called the cerebellum.
It affects around 4 out of 5 people with MS at some point.

Spasticity and Spasm:
Spasticity is when a person’s muscle is stiff and rigid leading to difficulty in moving the muscle. Spasms are when a muscle moves involuntary in often sudden bursts. Both these symptoms can lead to difficult in walking and performing daily tasks which can lead to a significant impact on a patient’s quality of life.

Having even one of these symptoms can have an enormous and profound effect on a person’s quality of life. It can affect their daily function, emotional wellbeing and independence.

Prompt diagnosis of MS and early treatment may help reduce the impact these symptoms have on your life.

How does diagnosis work?

Given the numerous different ways that MS can present, the road to diagnosis can be a long and stressful one. Often several other diagnoses are considered before MS, leaving people feeling helpless and uncertain of the future.

With symptoms fluctuating and progressing over time, general physicians and specialist have to work closely to reach a diagnosis of MS. No single blood test or imaging exists currently that can lead to a definitive diagnosis of MS. It is therefore sometimes referred to as a “diagnosis of exclusion”.

There are several investigations that a general physician or specialist may arrange when a diagnosis of MS is being considered.

Investigations can include blood tests to rule out other causes of the persons symptoms.

Patients who are being investigated for MS will also likely have an MRI scan of their brain and/or spine to look for areas of damage (scarring) suggestive of the condition.

A lumbar puncture may also be performed to collect cerebrospinal fluid (CSF) for further analysis.

For a specialist to give a diagnosis of MS to patient they must satisfy the following criteria:

• Find evidence of two separate areas of damage (scarring) in the central nervous system

• Find evidence of disease activity at two separate periods of time

• Exclude any alternative diagnosis

In rural communities where access to GPs can be limited and access to specialist even more so, time to diagnosis can be longer than in urban settings.

Delays in seeing a specialist can lead to delays in organising relevant investigations, leading to a later diagnosis. Accessing investigations such as an MRI scanner may require travel to a location several hours from a person’s home.

What treatment is available for MS?

Unfortunately, there is no single treatment that exists that can cure MS. Treatment options are instead focused on modifying the course of the disease,  improving quality of life and controlling symptoms.

Medications for MS can be broadly categorised into three groups:

1. Disease Modifying Therapies: medications that attempt to reduce the risk of relapse and disease progression.

2. Symptomatic Treatment: medications that look to improve people’s quality of life by managing the symptoms.

3. Therapies used during active relapses: these include steroid therapies which aim to reduce the inflammation in relapses with the goal to reduce duration.

As extensive research continues in Australia and around the world, we can hope for more comprehensive and conclusive investigations leading to quicker diagnoses as well as more effective treatment options.

About the author:

Dr Sarah Burns is a graduate from the University of Dundee Medical School in Scotland. She has a long-standing interest in public health and addressing the many health inequalities seen in rural communities.