Motor Neurone Disease (MND) 101: Causes, Symptoms, Diagnosis & Treatment

Motor neurone disease (MND) is the collective term for a type of disease that affects the brain and nerves. Knowing the early signs of MND is crucial for early detection and intervention. Read on to find out more about motor neurone disease, including its causes, signs and symptoms and how to get diagnosis and treatment for MND.

What is Motor Neurone Disease (MND)?

Motor Neurone Disease (MND) is the name for a group of diseases that cause the nerve cells (neurones) that control your muscles to degenerate and die. MND specifically causes damage to cells called ‘motor neurones’ which carry messages from your brain to your muscles through your spinal cord. Normally, these messages are what allow you to make deliberate movements such as talking, swallowing, breathing and walking. When MND damages these cells, the muscles become harder to control. This can lead to the muscles weakening and deteriorating, causing loss of strength and mobility. Eventually, MND can lead to paralysis or a loss of ability to use any muscles in your body.

MND is a type of neurodegenerative disease which is uncommon but serious. In Australia, approximately 2,100 people are living with MND at any one time. Every day, two Australians receive a diagnosis of MND. MND can appear at any age but might become more likely with age. About 40% of Australians with MND were diagnosed before the age of 65, with the remaining 60% being diagnosed from the age of 65 onwards. MND is a debilitating condition that increasingly makes your usual activities difficult or even impossible without adequate support. If you or a loved one is diagnosed with MND before the age of 65, you may be eligible to apply for National Disability Insurance Scheme (NDIS) funding to meet your individual support needs. If the diagnosis is made after the age of 65, there may be some support available through My Aged Care funding.

Types of Motor Neurone Disease (MND)

There are several different types of motor neurone disease (MND). The type of MND diagnosed is assessed by your doctor, based on which neurones are affected and whether the condition is hereditary or spontaneous. 

5 Types of Motor Neurone Disease (MND)

1. Amyotrophic Lateral Sclerosis (ALS)

This is the most common type of MND. It affects both the upper and lower motor neurones, disrupting the brain’s messages to the muscles in the arms, legs, respiratory system and mouth. ALS is a serious condition that can reduce life expectancy, but adequate management can help you or a loved one to lead a longer, more fulfilling life.

2. Primary Lateral Sclerosis

This type of MND affects the neurones in the brain. It is less common than ALS and progresses more slowly. It is typically not fatal but can reduce the quality of life. If primary lateral sclerosis is diagnosed in childhood it is referred to as juvenile primary lateral sclerosis.

3. Progressive Bulbar Palsy (PBP)

PBP affects the brain stem. Many people with ALS have an additional diagnosis of PBP. It often causes problems with the muscles of the mouth, leading to difficulty swallowing, eating and talking.

4. Progressive Muscular Atrophy

A rare type of MND that affects the lower motor neurones of the spinal cord. It causes slow, progressive wasting (atrophy) of the muscles in the legs, arms and mouth.

5. Flail Arm / Flail Leg Variants

A type of MND that can affect the lower motor neurones, leading to progressive weakness in the arms and legs.

These symptoms can vary between individuals, and some people will experience crossover between the subtypes of MND.

Stages of Motor Neurone Disease (MND)

The stages of motor neurone disease (MND) are defined by the progression of its symptoms. MND is typically categorised into three stages: early, middle and advanced.

Early Stage Motor Neurone Disease (MND) Symptoms

Early stage symptoms of MND are often mild at first and progress more slowly. During early stage MND, symptoms may be mistaken for other health conditions. Early stage MND symptoms will depend on what type of MND is diagnosed and where in the body is most affected. Symptoms during early stage MND often first appear in the arms, legs, respiratory system and mouth. Symptoms can include:

• Weakened grip
• Difficulty grasping and holding objects
• Fatigue or exhaustion
• Weight loss due to muscle wasting
• Unpredictable emotional responses (including random laughing or crying)
• Twitching, cramping or main in the muscles
• Weakness in the arms and legs
• Slurred speech
• Loss of coordination including stumbling 
• Clumsiness
• Shortness of breath or breathing difficulties
• Difficulty swallowing

Middle Stage Motor Neurone Disease (MND) Symptoms

During middle stage MND, the early stage symptoms may become more severe. As it progresses, MND often affects the brain function of the individual. This can bring about memory and language problems and changes to their mental health and emotional state. Additional symptoms that can appear during middle stage MND include:

• Muscle atrophy (shrinking)
• Difficulty moving
• Breathing difficulties
• Personality changes
• Dementia
• Depression
• Anxiety
• Joint pain
• Drooling as a result of swallowing difficulties
• Uncontrollable yawning
• Jaw pain as a result of yawning

Advanced Stage Motor Neurone Disease (MND) Symptoms

During advanced stage MND, the early and middle stage symptoms become even more severe. People in late stage MND often need help with basic tasks like moving, breathing and eating. These symptoms can become extremely serious and even life-threatening. The majority of deaths from MND are related to a failure of the respiratory system. People may experience additional mental health challenges as a result of their declining health and mobility during this stage.

Signs and Symptoms of Motor Neurone Disease (MND)

The signs and symptoms of motor neurone disease (MND) can vary depending on what part of the body is most affected. MND symptoms often change and become more severe as the disease progresses. Symptoms typically start slowly and progress over time. Some of the earliest signs people with MND notice are:

• Muscle weakness in their legs, sometimes causing trips and falls
• Shoulder weakness, causing problems lifting and holding things
• Difficulty speaking or speech that sounds slurred
• Weakened grip and loss of strength in their hands
• Cramping and twitching of their muscles
• Chewing or swallowing difficulties
• Fatigue
• Muscle wasting
• Respiratory changes
• Cognitive changes
• Emotional changes
• Some people with MND develop a type of dementia

These symptoms tend to progress over time until the individual has little movement and requires assistance to eat, breathe and speak.

What Causes Motor Neurone Disease (MND)?

Motor neurone disease (MND) does not have a single known cause. It is not contagious, meaning you can’t catch it off someone else. Research into the causes of MND is investigating the potential influence of:

• Virus exposure
• Certain toxin and chemical exposure
• Nerve growth factors
• Growth, repair and ageing of motor neurones
• Immune responses that cause neurone damage or inflammation
• Genetic factors

Approximately 10% of MND diagnoses are thought to be hereditary, due to inheriting a genetic mutation. This means the vast majority of MND cases are spontaneous and occur seemingly randomly. People with a family history of MND may be recommended to undergo genetic testing. People who inherit the genetic mutation that can lead to MND may be at an increased risk of developing the condition. However, not everyone who has the MND genetic mutation will develop MND. MND is a complex condition and is generally thought to be a result of genetic, environmental and lifestyle risk factors.

Risk Factors of Motor Neurone Disease (MND)

Motor neurone disease (MND) can occur at any age, depending on the type. Hereditary MND may be present at birth, but symptoms are more likely to develop from the age of 50 years onwards. MND is more common among men than women. 

Genetics can be a significant factor for some types of MND. Spinal muscular atrophy (SMA) is always inherited, unlike other forms of MND. Some (around 1 in 10) cases of Amyotrophic Lateral Sclerosis (ALS) are inherited.

Exposure to certain toxins and chemicals may increase the risk of developing MND. Traumatic head injuries may also increase the chances of MND developing. Studies have highlighted this potential risk factor by demonstrating an elevated rate of MND diagnoses among professional soccer players.

With ongoing medical research, we hope to better understand the risk factors for MND to support better prevention, management and treatment of this disease.

How is Motor Neurone Disease (MND) Diagnosed?

No one test can determine if you have motor neurone disease (MND). Diagnosis is typically made by doing several tests to eliminate other conditions and monitoring symptoms. Diagnosing MND is difficult because symptoms can be very mild at first and resemble symptoms of many other conditions. MND symptoms are also highly variable, with patterns of weakness and progression varying significantly between individuals.

If you or your doctor suspect you may have MND, you should be referred to a neurologist. The neurologist will take your medical history, do a thorough examination and listen to your symptoms. They will likely also do some tests to begin the diagnostic process. 

6 Tests That are Often Done During a Motor Neurone Disease (MND) Diagnosed

1. Blood Tests and Urine Tests

These can help rule out other conditions that can cause MND-like symptoms. They can also test for creatinine kinase, a substance produced when muscles are broken down.

2. MRI Brain Scan

MND can not be diagnosed with an MRI scan. MRIs can be used to rule out other conditions like stroke, unusual brain structures and tumours.

3. Nerve Conduction Study (NCS)

This test measures how fast electrical impulses are moving through your muscles.

4. Electromyography (EMG)

This test measures how much electrical activity is taking place in the muscles.

5. Spinal Tap or Lumbar Puncture

Testing of the cerebrospinal fluid to rule out other conditions.

6. Muscle Biopsy

Testing the muscle tissue can help to rule out muscular diseases.

During this diagnosis process, your symptoms will be monitored to track any progression and determine whether or not it is MND.

How is Motor Neurone Disease (MND) Treated?

There is no cure for motor neurone disease (MND) currently available. There is a range of treatments available that can help you to reduce your symptoms and improve your quality of life. The type of treatment recommended will depend on how MND affects you and what stage of MND you live with. Treatment is often focused on retaining mobility and independence and reducing discomfort. Treatment frequently includes medications, supportive devices for activities like speaking and eating, and physical and psychological therapies. Unfortunately, many people diagnosed with MND die within 2-3 years of acquiring the condition. However, with effective treatment and early intervention, some people live for much longer and with a good quality of life. Patients with late stage MND may receive palliative or end of life care to keep them as comfortable as possible.

Getting Support to Manage Motor Neurone Disease (MND)

If you or a loved one live with motor neurone disease (MND), you will likely be supported by a team of different health care professionals. This can include your general practitioner (GP), neurologists, occupational therapists, speech pathologists, psychologists, physiotherapists, social workers and nurses. 

How Homage Can Help

Getting to your various appointments can become time-consuming and exhausting, especially as the symptoms progress and impact your mobility and energy levels. However, it is important for early detection and effective management of MND to attend all your appointments as scheduled. Our Patient Transport & Medial Escort service provides you with a professionally trained, caring staff member to support you to get to and from important appointments, so you can focus on more important things.

Home care nurses and support workers can also make a huge difference in how you feel when receiving MND treatment. As mobility starts to decline, there is a great sense of comfort, dignity and ease that comes with being able to receive support from the privacy of your own home. Being surrounded by loved ones can improve your mental state and make the physical challenges of your condition easier to live with. Homage’s team of experienced, dedicated Care Professionals can support you or someone you love by offering high-quality Home Nursing. Our team can help with basic nursing tasks like medication administration, feeding through nasogastric tubes (NGTs) and gastrostomies (PEGs), as well as basic personal care tasks. We always tailor our services to your unique needs and situation, so don’t hesitate to reach out and find out how Homage can support you in your health journey.

Need some assistance with care for yourself or your loved one? Find out how Homage can help!