Motor neurone disease how is it diagnosed

Mary' They should have given us more details about what to expect afterwards. He had various tests including a lumbar puncture. He was the only person in the ward not to And over Christmas, which was just after Christmas, I had to go to see the specialist, over Christmas.

I think my wife thought it was MND. How, I don't know. I thought, well, I might have something, MS, Parkinson's, some neurological condition. It didn't seem like a trapped nerve. Anyway I went in the January. They examined me. They said, 'You've got to come back in to hospital for full tests,' which was in the March. And I went through the full gamut of tests. Most of the tests are done to eliminate other possibilities.

So you get a lumbar puncture, which I suppose eliminates the possibilities of other cerebral or spinal problems. But nobody with MND needs the lumbar puncture. It's just to eliminate.

I was lucky. I was the only person in my ward who didn't have a stinking headache for 24 hours afterwards. They said, 'Drink the water'. They brought me sort of school jugs of water - I don't know, a litre and half of water - and they said, 'You've got to drink two of these in the next hour, and you're not allowed to move,' which is one of those impossibilities, because if you drink three litres of water you certainly need to go to the lavatory.

Anyway I did, and I was the only person who didn't seem to have a headache. The tests are the standard tests. They put little electric probes into you. Some of them are passive and they read the electrical connections, I suppose.

The others are active and make various bits of your anatomy twitch, mostly in the legs. It's very disconcerting because you're sitting there and suddenly your leg jumps. And there's no logic to which way it goes, either. It's a bit like starting a steam engine, you don't know whether it will go backwards or forwards. And you get also an MRI scan, which I suppose is to eliminate other things. Anyway, so the diagnosis was straightforward.

I was one of the ones for whom there was no question. I had ALS and it was standard. My readouts showed all the standard features.

She saw two neurologists before being diagnosed with PMA. She had a range of tests and treatment I first suspected there was something wrong in the beginning of I was a very keen dancer, Scottish dancing, Scottish country dancing, and I found that as I got to the end of a dance I couldn't quite make it. I was having to scurry around, and I couldn't jump up and down in the bouncy way you're supposed to do it. And I found this was getting worse. I also found that when I was doing yoga, I couldn't support myself on my arms to do the cobra and things like that.

And when I was walking, I used to be a very fast walker, and I found that my feet were flopping as I was walking along. I couldn't understand what was happening. I thought perhaps it was just my age. It might have been the menopause, something like that. But as it didn't seem to be getting any better, I went to my GP eventually. Partly because I'd read in a novel about somebody who had motor neurone disease and I thought, 'Oh, God, this might be it'. So she took lots of blood tests and they took a while to come back.

And I had to go and see her again, and she said the blood tests hadn't shown anything. So she thought she'd refer me to a neurologist.

She thought I might have something called myasthenia gravis. So she just gave me that as an idea to start with, which put me off the idea of thinking I'd got motor neurone disease. So I then had to wait about four months before I saw a neurologist, which was a bit nerve-wracking really, because I didn't know what was wrong with me and I could tell that things were going slightly downhill. Then I saw a general neurologist at the local hospital and he put me through all the tests.

And he said he wasn't sure what it was and he would like to have a second opinion and he would make an appointment for me to go to the main hospital in the region, where there was a specialist in the, whatever he thought it was, which he wasn't telling me. And I'd have to wait to see her. So I went home and I immediately went to the computer and looked up motor neurone disease.

And from the way he'd been testing me, I decided that was what I must have. So I didn't feel too happy about it, but I just had to wait then, you see. So again it took another three months before I got to see the specialist.

And I was actually admitted to hospital for three days while they did all sorts of tests on me. They put me all round the hospital, they X-rayed me. They ran the electric currents through me. They measured my breath and everything like that. And then the Prof. And her conclusion was that I might have another complaint, which she proposed to try treating with gamma globulin or immunoglobulin, or something like that, or I might have motor neurone disease, but an unusual kind of it.

So I went into hospital for a few more days to have treatment with this globulin treatment. That did no good. So in January I went back and she decided that what she thought I must have was a fairly unusual form of motor neurone disease, which she called progressive muscular atrophy.

And I then had to start visiting the hospital every two or three months for check-ups. And so they did all my motor neurone scores and things. They tested all the muscles and took my weight and things like that. He had problems getting referred to neurology and had long waits between appointments. In the end She had lengthy investigations and an operation for a spinal cyst which made no difference And then that week I went to see the GP, who said, tested me and said, 'Well, you've got a bit of a weakness in your left leg', which I think was an understatement [laughs], and referred me to a neurologist.

Well, I went to see the neurologist, who just kept looking at me. And at the time I thought, 'Why does he keep looking at me? Why he didn't tell me that I don't know, and I, I, you know, it was a very scary situation. So he did all the sort of MS tests, asked me about my bladder, my bowel, my breathing, my swallowing, my - so obviously MND tests as well, and thoroughly examined me, asked me to walk across the room, then asked me to stand on my heels.

Well, I couldn't. And I thought, 'Oh, that's a bit weird. I did know that I couldn't jump, because again retrospectively, I look back at things that I couldn't do, and now I realise why I couldn't do them. But at the time I just thought I was getting old, even though I was only And he said, 'Stand here,' and I said, 'Oh, I can't. Sit down. So you can, you know, know a lot of information but not know everything.

And he said, 'Well, basically you lift your foot up and, and it doesn't lift up properly, and your foot drops and that's why you trip over. I thought I had MS. And he said, 'Oh, look, this is what we've found.

This is a cyst on your spinal cord, and we think this is causing the damage. We can't guarantee you'll get back to what you were before, but we can at least stop any sort of progression of the problem. We can either remove the cyst or reduce the size of it. I lost a stone in weight in a week, and it was absolutely horrific.

And I eventually got over that and started rehabilitating. But of course over the next twelve months my condition worsened. Did it make it any better, having the operation?

No, no. Obviously I had to get over the operation, so, you know, that I classed as my rehabilitation. And at the end of the rehabilitation I was no better, and I was just gradually getting worse. And funnily enough I bumped into my neurology consultant when I was interviewing another consultant at a hospital, and I had a stick at that point, and he said, 'Oh, I'm quite surprised to see you in that condition. He referred me back to the neurosurgeon, who did another MRI and started talking about my spinal cord being thin in places.

Which again absolutely terrified me, and I was in tears. And this went on for another, oh, eight months. And then I had several EMGs. And I went back to see the neurologist in the July, the day before we got the Olympic Games for , I remember it distinctly.

She would prefer doctors to explain that MND is one of the things they are looking for and that the diagnostic process can be long and uncertain. The only thing really is, is the business of what happens in the interim between somebody knowing you've got a neurological problem to getting the actual definitive diagnosis.

I, I think, I think the way it was handled with me was poor. And I think neurologists have to understand that if you even suspect motor neurone disease - I know it's like saying to somebody, 'Oh, you've got something or other, it could be cancer, but it might not be. You know, because it's pretty obvious that an intelligent person like me is going to think, 'Well, I might have motor neurone disease. It could well be a possibility. Knowing that it takes so long to diagnose and knowing that the sort of things that led up to it are the, the sort of symptoms that could mean it, I think you have to let people know.

And the fact that I didn't know for so long I, I feel is really quite unfair. And the fact that they left me alone. No follow-up. It was, 'Goodbye. Otherwise I just don't know where I'd be now, I really don't.

She developed symptoms in pregnancy. She believes the neurologist knew at once what was wrong but I was diagnosed with Motor Neurone Disease in April whilst 7 months pregnant with my second child.

My only apparent symptoms were slightly slurred speech, weakness and muscle wasting in my left arm; they appeared suddenly in February that year and I thought perhaps I'd had a mini stroke. Looking back I've realised that my very first symptom, emotional lability, started around April I would laugh or cry excessively and inappropriately and it bewildered and disturbed me because I couldn't work out why it was happening.

I mentioned my symptoms to a doctor during an ante-natal check up. He referred me to a neurologist and I waited from February until April for an appointment. Considering I was pregnant I think a two month wait was unacceptable although in my case it didn't make any difference because my form of MND isn't hereditary.

I do worry about my children developing it, although there's no history of it in my family, but what if I'm the first? And if I was told it was hereditary I wouldn't have had the option of aborting because I was kept waiting although I'm thankful I didn't have to consider abortion.

I only received an appointment after numerous phone calls and was then told I'd been lost in the system and there was a long waiting list. MND Victoria can help people to cope with the physical and emotional effects of the diagnosis by providing:.

This page has been produced in consultation with and approved by:. Folic acid taken before conception, and during at least the first four weeks of pregnancy, can prevent around seven out of 10 cases of neural tube defects.

Cerebral palsy affects people in different ways some people experience minor motor skill problems, while others may be totally physically dependent. Charcot-Marie-Tooth disease is the most common inherited disorder affecting the peripheral nervous system. Essential tremor causes involuntary shaking or trembling of particular parts of the body, usually the head and hands, but it is not Parkinson's disease. To the casual observer, a person with Friedreich ataxia may seem to be drunk.

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Skip to main content. There is no single test to diagnose motor neurone disease and every patient is different. The medical team decides which tests should be performed on a case by case basis. Tests are performed to look for supportive features of motor neurone disease and to look for other possible causes of a patient's symptoms See ' Are there other conditions that can mimic MND? There is no blood test to diagnose MND.

However, blood tests might be performed to look for evidence of damage to the muscle called CK, or creatine kinase , to look for causes of inflammation in the spinal cord such as vitamin B12 levels or to look for supportive evidence of damage to the motor nerves such as anti-ganglioside antibodies.

The appropriateness of each test is determined on a patient by patient basis and as all patients are different all the tests may not be performed on every patient. It is very likely that the medical team will request this test for all patients being investigated for motor neurone disease. A specialist doctor called a neurophysiologist performs the nerve conduction and EMG tests. The tube is surgically implanted into your stomach through a small cut on the surface of the stomach.

It shouldn't restrict your daily activities and you can continue to bathe and swim normally if you wish. It's advisable to have the tube inserted before the breathing muscles are significantly weakened, even if it isn't used for feeding until sometime later. Motor neurone disease isn't usually a painful condition.

If you experience pain, it's often aching joints caused by muscle weakness or a change in posture. The type of painkiller recommended will depend on how severe the pain is.

Mild to moderate pain can often be controlled using non-steroidal anti-inflammatory drugs NSAIDs , such as ibuprofen. More severe pain is very rare, but it can be treated using an opiate-based painkiller such as morphine.

In some cases, a type of medication called gabapentin is used. It was originally designed to treat epilepsy but it's also useful for treating pain. Drowsiness is a typical side effect of gabapentin.

As motor neurone disease progresses, the muscles that help you breathe will become weaker and your breathing will become increasingly shallow, with a weaker cough. Breathing difficulties usually develop gradually, although rarely they may be the first sign of motor neurone disease. It's important to discuss breathing problems with your GP before they occur.

Your GP or neurologist should be able to refer you to a respiratory specialist or a palliative care specialist, as appropriate. Many people with motor neurone disease benefit from non-invasive mechanical ventilation NIV to support their breathing, usually overnight when asleep. Room air not oxygen is sucked into a small box, filtered and then gently pumped into the lungs through a face mask or nasal tube each time the person takes a breath.

NIV may not be suitable for everyone with motor neurone disease. Your respiratory or palliative care specialist will be able to discuss the options available to you.

Deciding what treatment you want to use in the event of respiratory failure is an important part of drawing up a treatment plan and making an advance decision. This can be a very difficult and upsetting decision, and you may want to discuss it with your loved ones. Some people with motor neurone disease find complementary therapy helpful.

This involves combining conventional treatments with non-medical treatments, such as acupuncture. Complementary therapies can't slow the progression of the disease, but they may help reduce stress and make your daily life more comfortable. Before considering complementary therapy, you should seek advice from your treatment team and ensure that any practitioners you contact are appropriately registered, qualified and experienced.

Caring for someone with motor neurone disease can be both physically and emotionally demanding, and it's likely you'll need a wide range of support. For information and advice about all aspects of caring, visit Care Information Scotland.

About motor neurone disease 2. Symptoms of motor neurone disease 3. Causes of motor neurone disease 4. Diagnosing motor neurone disease 5.

Treating motor neurone disease. About motor neurone disease Motor neurone disease is a rare condition that progressively damages parts of the nervous system.

Motor neurones control important muscle activity, such as: gripping walking speaking swallowing breathing As the condition progresses, people with motor neurone disease will find some or all of these activities increasingly difficult. Read more about the causes of motor neurone disease and diagnosing motor neurone disease Progression of symptoms The symptoms of motor neurone disease begin gradually over weeks and months, usually on one side of the body initially, and get progressively worse.

Common early symptoms include: a weakened grip, which can cause difficulty picking up or holding objects weakness at the shoulder that makes lifting the arm difficult a "foot drop" caused by weak ankle muscles dragging of the leg slurred speech dysarthria The condition isn't usually painful.

Who's affected by motor neurone disease? Treating motor neurone disease There's currently no cure for motor neurone disease. Treatment aims to: make the person feel comfortable and have the best quality of life possible compensate for the progressive loss of bodily functions such as mobility, communication, swallowing and breathing For example, a breathing mask can greatly help the symptoms of breathing and weakness, and a feeding tube called a gastrostomy helps maintain nutrition and overall comfort.

Read more about treating motor neurone disease Survival rates Motor neurone disease is a severely life-shortening condition for most people. Advice and support The Motor Neurone Disease Scotland is the leading Scottish charity for people affected by the condition. Symptoms of motor neurone disease The initial symptoms of motor neurone disease often affect certain areas of the body before eventually becoming more widespread.

The symptoms usually follow a pattern that falls into three stages: the initial stage the advanced stage the end stage Initial symptoms The initial symptoms of motor neurone disease usually develop slowly and subtly over time. Limb-onset disease In about two-thirds of people with motor neurone disease, the first symptoms occur in the arm or leg.

These symptoms include: a weakened grip, which can cause difficulties picking up or holding objects weakness at the shoulder, making lifting the arm above the head difficult tripping up over a foot because of weakness at the ankle or hip These symptoms are usually painless and may be accompanied by widespread twitching of the muscles fasciculations or muscle cramps, and there may be visible wasting of the muscles with significant weight loss.

Bulbar-onset disease In a quarter of cases, problems initially affect the muscles used for speech and swallowing.

Respiratory-onset disease In extremely rare cases, motor neurone disease starts by affecting the lungs, rather than affecting them at the end of the condition. Advanced symptoms As the disease becomes more advanced, the differences between the various types of disease are less noticeable as more parts and functions of the body are affected. Muscular symptoms The limbs become gradually weaker and the muscles in the limbs may appear progressively wasted.

Speaking and swallowing difficulties At least two-thirds of people with motor neurone disease find that speaking and swallowing become increasingly difficult as the condition progresses. Saliva problems Reduced swallowing can cause an excess of saliva, sometimes with drooling. Excessive yawning Some people with the disease have episodes of uncontrollable, excessive yawning, even when they're not tired. Emotional changes Motor neurone disease can lead to changes in a person's ability to control their emotions, particularly when there's weakness in the muscles that control speech and swallowing.

Changes to mental abilities Occasionally, people with motor neurone disease may have significant difficulties with concentration, planning and use of language. Breathing difficulties As the nerves and muscles that help control the lungs become progressively more damaged, the person's breathing will become less efficient. End-stage symptoms As motor neurone disease progresses to its final phase, a person with the condition will probably experience: increasing body paralysis, which means they'll need help with most daily activities significant shortness of breath Eventually, non-invasive breathing assistance won't be enough to compensate for the loss of normal lung function.

Secondary symptoms Some people with motor neurone disease have additional symptoms that aren't directly caused by the condition but are related to the stress of living with it. Causes of motor neurone disease Motor neurone disease occurs when specialist nerve cells motor neurones in the brain and spinal cord progressively lose their function.

Possible causes of motor neurone disease It's still unclear why the motor neurones begin to lose function. Aggregates and RNA processing Aggregates are abnormal clumps of protein that develop inside motor neurones. Cell transport disruption All cells contain transport systems that move nutrients and other chemicals into the cell and waste products out of the cell.

Glial cells Glia are cells that surround and support motor neurones and provide them with nutrients. Glutamate Nerve cells use special "messenger chemicals" called neurotransmitters to pass information from one cell to another. Mitochondria Mitochondria are the "batteries" of cells. Familial motor neurone disease The fact that the disease can run in families suggests that single genetic mutations inherited from parents may sometimes have a much larger role in the condition.

Diagnosing motor neurone disease See your GP if you experience the initial symptoms of motor neurone disease , such as a progressive, usually painless, weakness of grip. Diagnosing motor neurone disease can be difficult during the condition's initial stages because many of the early symptoms can be caused by other more common health conditions such as: a trapped nerve — wear and tear of the bones in the spine can sometimes cause nerves to become trapped and compressed under the spine peripheral neuropathy — where part of the nervous system becomes damaged by another health condition, most commonly type 2 diabetes Initial testing Motor neurone disease is usually diagnosed by a neurologist based on the symptoms and a physical examination.

Tests may include: blood tests — these can be used for several reasons, such as checking that certain organs, such as your thyroid, are working normally, or to look for a marker of muscle weakness creatinine kinase magnetic resonance imaging MRI scan — to give a detailed image of the inside of your brain and spinal cord electromyography EMG — measures the electrical activity in your muscles, which shows how well your motor neurones are working and connecting to the muscles nerve conduction test — similar to an EMG but measures how quickly your nerves can conduct an electrical signal lumbar puncture — a sample of spinal fluid may be removed for testing to exclude an inflammatory nerve condition muscle biopsy — in rare cases, a small sample of muscle may be removed for testing to determine whether the problem lies in the muscles or nerves Confirming the diagnosis There are many reasons why there may be delays in diagnosis.

Receiving the diagnosis Being told you have motor neurone disease can be emotionally devastating and the news can be difficult to take in at first. These are: denial — you may initially disbelieve the diagnosis and think there's nothing wrong with you or that your doctor has missed another diagnosis anger — you may feel angry towards friends, family or medical staff, particularly if you feel that the diagnosis has been unduly delayed bargaining — people with terminal conditions sometimes try to "bargain" with their doctors, asking for any sort of treatment that can prolong their life depression — you may lose interest in life and feel that your situation is hopeless acceptance — you come to terms with the diagnosis, the feelings of depression pass, and you begin to plan the rest of your life If you've been diagnosed with motor neurone disease, talking to a counsellor or a trained clinical psychologist may help combat feelings of depression and anxiety.