Diagnosis relies on a complete medical history and physical examination, as well diagnostic tests. If motor neurone disease is suspected, a referral to a neurologist a doctor who specialises in the treatment of diseases of the nervous system will be recommended. A common test used in the diagnostic process is an electromyogram EMG which is an electrical test of muscle function. Another common test is a nerve conduction study NCS which assesses a nerve's ability to send a signal.
Other tests that may be used to assist with the diagnosis and rule out other causes for the symptoms include blood tests and magnetic resonance imaging MRI scans. Treatment There is no cure for motor neurone disease and no treatment will significantly alter its course. Medications may be prescribed to control involuntary muscle twitching, muscle cramps and excess saliva. However, treatment essentially focuses on retaining function and quality of life and providing comfort.
A disease-modifying drug called riluzole Rilutek , which has the potential to modestly prolong survival in some patients, is available in New Zealand. Riluzole is funded for people who meet certain criteria and can only be prescribed by a specialist, usually a neurologist.
Management of the condition will require input from a team of health professionals that may include: Family doctor Neurologist Respiratory specialist Gastroenterologist Physiotherapists Occupational therapists Speech and language therapists Nurse specialists and district nurses Dietitians Social workers Counsellors Palliative care specialists and hospice care Sleep technologists.
Equipment to help overcome practical difficulties and communication problems is available. The progressive nature of the condition means that most people will eventually require full time nursing care. When breathing becomes too difficult, a mechanical ventilator may be required to maintain breathing. While the use of a ventilator can prolong life and improve sleep, it will not alter the course of the condition, and many people with motor neurone disease therefore choose not to use ventilators for lengthy periods.
The Motor Neurone Disease Association of New Zealand Inc provides support, advice, information and advocacy for people living with the disease. Motor neuron disease. St Louis, MI: Elsevier.
Amyotrophic lateral sclerosis ALS. MND New Zealand MND: Some facts Booklet. Motor neurone disease Web Page. The diagnosis of motor neurone disease is often clinically difficult, and sometimes it is necessary to review a person for some time before the diagnosis becomes relatively certain.
A general practitioner may suspect a neurological problem, and organise referral to a neurologist. Several other neurological conditions resemble motor neurone disease, especially in the early stages, and need careful exclusion.
The diagnosis can be assisted through a range of tests, including some which eliminate other conditions. NCS involve analysing neural function by electrical stimulation of nerves and recording muscle activity. EMG consists of inserting a needle electrode into various muscles to measure their electrical activity. A few people were referred to a specialist in another area such as ear, nose and throat ENT or other specialties.
Their Red Flag tool is designed to help GP's make accurate referrals and therefore reduce the time to diagnosis see their website for more details. Once referred to a neurologist, several tests will be carried out to rule out other conditions such as multiple sclerosis, spinal muscular atrophy or myasthenia gravis and look for evidence of MND.
Some people were admitted as an inpatient and had these tests within a couple of weeks. Others waited several months between various test appointments. One important test is EMG electromyography , which involves using fine needles to record naturally occurring electrical impulses in the nerves. Muscles which have lost their nerve supply as a result of MND show an abnormal pattern. An electrical impulse is applied through a small pad on the skin.
This measures the speed at which your nerves carry electrical signals. Transcranial Magnetic Stimulation TMS : may be carried out at the same time as a nerve conduction test.
It is designed to measure the activity of the upper motor neurones. Its findings can help in the diagnostic process. Blood tests can detect a substance called creatine kinase in the blood, which is sometimes raised in MND but also in other conditions. MRI magnetic resonance imaging scan and lumbar punctures taking a sample of fluid from the spine cannot in themselves confirm MND, but may be used to look for other conditions which can mimic the symptoms of MND.
One woman chose not to have MRI because she had had one before and found it 'very scary', and her consultant felt he already had enough information to be pretty sure about the diagnosis. Lumbar puncture is not commonly used, but may be useful for people whose initial symptoms are not typical and who may have a different condition.
Some people who had a lumbar puncture had a bad reaction, developing a severe headache afterwards, but one man felt lucky to have avoided this. People felt it was important to get as much information as possible beforehand from clinical staff about what to expect, to help them prepare for the procedure. Some people were given intravenous immunoglobulin IVIG. In some rare diseases of nerves for example conduction-block neuropathy the immune system becomes directed against motor nerves and damages them in a way that can at first be hard to distinguish from MND.
IVIG can restore the immune system leading to recovery of nerve function. Several people were referred to another neurologist before their diagnosis was confirmed. Not all neurologists are specialists in MND and they may want to ask a colleague for a second opinion.
Some people waited several months between appointments. Some chose to get a second opinion, either through the NHS or privately. The frustration and anxiety of waiting for appointments and waiting for a diagnosis could be considerable. Yeah, so I seen the neurologist about six months after I see - more, more than that, more than that, it was eight months after I noticed something wrong. After that they sent me the letter from the hospital.
So I will see the neurologist - I think it was about again five months. I tried to call him. Nobody answered the phone.
I left messages on the answerphone. Nobody called me back. I called the hospital. They told me, I asked them if I can see private. They say, 'Yes, tomorrow.
I make appointment for next day. They say so they will have my results. They have only half of it, without the scan, brain scan. And they then say, the doctor says according to this thing I should be seen by neurologist straight away. He say only half of it, the EMG test. And he make appointment - he haven't charged me any money because he say he cannot charge me because he got only half of my things - and he make appointment with my doctor, the doctor who was supposed to see me within the four or five months, for next morning.
And he says, 'So probably this is motor neurone disease. I wait another four months. After that he say so he will send me to his colleague. I wait another three months because they sent the letter to the wrong address [laughs]. And they say, 'So probably it's motor neurone disease.
They don't say, at least they don't say nothing. So how long was it altogether from when you first started thinking something was wrong to getting to this point? One and - nearly one and a half. But you know, the speed how they work is - I went to Poland in August - September. I'd been waiting for MRI test here of the spine. They give me about four months to wait. I call them, I call, I find in the Internet somewhere, actually it was in the same hospital but a private company, they could do tomorrow, ', on same machine which normally they're doing for rest of them.
But it's four months waiting. I went to Poland, I spoke to someone. They called to a hospital - it's again private, private, but most of the jobs there were for sort of NHS in Poland.
They call them, and they says if I want I can be there tomorrow at 5. And it cost , sorry, , - Polish Zloty, which is 1 to 6, below ', which cost ' here. And we went there. They did the thing. It was about half an hour, 45 minutes.
I ask, 'How long we have to wait? And here, results 5 working days. Several people thought that doctors had suspected they had MND but had not told them straightaway. Although people realised doctors might be trying to protect them and not make them worry unnecessarily, many felt it would be better if doctors shared their uncertainties more openly with patients. So in the January, I saw the consultant again, and he still said, 'Could be something or nothing, I don't know.
Let's see which way it goes. For some reason I missed it, so I never thought about motor neurone. I thought the first symptom of motor neurone - how I could glean this - was something to do with the throat. But I got that wrong. In fact it's often the foot. But, OK, I missed it. So I was in sort of blissful ignorance, and being as by the January I still wasn't much worse, I wasn't that worried.
I was a bit, obviously a bit anxious that this, we were now stopping running. I was still going to the gym, I was still doing the swimming, but I, you know, I was still, anxiety was starting to creep in here because we didn't know what it was six months down the road. But I wasn't too bad.
I mean, I could go on norm-, fairly normally, walking. And then January, February, March - in the May the running was all over. And I decided I'd take up walking instead, perhaps join the Ramblers or something.
So I joined the Ramblers, and I had two fairly disastrous walks in the May. They were too long, I wasn't up to it. They were both of 10k, and one of them I remember was in the May and it was 10k. I got half way round and I was swaying, my balance was going, you see.
My balance was going. And I couldn't keep straight. And I still had no stick at this time, and the foot was still a bit funny, and I was like swaying. The balance was, was going. My balance was just not right. I could fall over quite easily for, to the sides, you know? June, I was due back at neurology, so I didn't worry because my appointment was booked.
And I walked in and I said, 'Well I've just been on two walks, you know, 10k, and it's not looking good. You were clear on the, clear on the MS. Don't think it's that, you know, because, because' - then he said, 'because MS tends to have a sensory factor, and I'm sticking needles in you and you know where they are. So I think we'll, you know, rule that one out. In one way, I'm really glad, because I was in blissful ignorance. In another way, I wish he'd said, 'It could go either way - for God's sake start enjoying your life, because if it does go one way, you know, if there's something you want, somewhere you wanted to go, some' - you know, like that.
I, I wish he'd said something like, 'Go for it. It could be nothing, but if you've got the burning and you wanted to go on holiday and there's somewhere you wanted to go, go now. I wish they'd said that, something like that, and just to - you know. Anyway we were, so now we were a year down the road and we still haven't got a diagnosis.
Some people said their neurologist asked them what condition they thought they might have. However, a few felt this was like a 'guessing game' and were upset by it.
A few people felt they had been given false hope when doctors reassured them it might not be MND or emphasised the uncertainty of the diagnosis.
One woman who initially suspected she had MND was told it might be spinal muscular atrophy. She felt she would have preferred to have known it was MND straightaway, even though she thought it would have made little difference to how she dealt with it psychologically. I had seen another neurologist - yes, I told you that.
I saw another neurologist and he said straight away, 'You are at the wrong conference. So then I went to see him and he's absolutely super and he's a specialist in MND, and I went to his again NHS clinic and he saw me and this was - let's see what date that was.
This was last year. So they kept on stressing you won't die with SMA. Well, you know, it was all really just to make me feel happier I think. I think they knew that I was fussing. I am still thinking it is SMA right up until January '06 and going on through January '06, sorry, until I went to see the neurologist. After going to the SMA conference I went to see the neurologist.
And I went in July, and he immediately said, 'You have motor neurone disease', which he then proceeded to say, 'I expect that is a shock to you. He then talked to me, talked it through and a brilliant tape of what it meant.
And so then I came home and then I started dealing with it. Now what do I say? It is shattering. I have got my head round it. I have reduced my lifestyle completely down from what a lot I was doing and, you know, although as I say some moments are very, very dark and black because you think you are getting better, getting worse and it is a bit black. That is enough of that. I don't think it would have made a scrap of difference whether I had known at the beginning or not, and I think possibly psychologically they were all right.
They were getting me up to the stage when I would accept the fact that I had this terminal disease. So I wouldn't blame anybody. I prefer the way the last specialist did it. But it could well be that he realised that I had been brought up to accepting this. Some people were upset to discover their likely diagnosis almost by accident, for example getting a letter signed by the MND clinic co-ordinator asking them to come for an appointment.
And at that moment we found out that this was an MND clinic. It can take some time for specialists to determine whether someone has one of these rare forms, so sometimes people had a diagnosis of MND which was later revised, or the diagnosis remained unclear for some time.
That was by then the Spring, and that led to a series of tests with the referral from the GP to [hospital] and a series of tests that were carried out there which were all the standard tests that would be associated with a nerve problem which had then been identified. So she had lumbar puncture, she had an MRI Scan, she had physical examinations, and that eventually ended up with a diagnosis by the consultant in [city]. And that must have been in, by that stage we were through to about July or August of last year, and that meant there had been problems for about a period of probably about six months.
By then Olivia was finding it very difficult to walk. Her left side was starting to not function particularly her leg and so she was using a stick. And she was finding it difficult to go up and down the stairs, and all in all the left leg wasn't functioning properly.
The rest of it was fine but she was beginning to lose a bit of function in her left arm as well. So we went for the second opinion in [city] and the second opinion suggested that it might not be motor neurone disease. It was very difficult to diagnose and that we would need to spend more time to look at it and we arranged that Olivia would go in for a series of tests in [hospital], and she did that and that must have been in August of last year.
She was moving downhill quite rapidly at that stage although none of us knew exactly what the problem was and the difficult one here, and in terms of other people learning from these lessons, is the speed at which the deterioration took place. The original consultant in [city] said he had seen only once, and only peripheral involved, involvement on his part.
He had seen another case in a young female of Olivia's age, but only one in his whole career. And so we all hung on to the hope that it probably wasn't and that there was some other cause and that it might be a whole array of other things and that's what the tests were for in [the city].
At the end of those tests most of those alternatives had been dismissed as not being possible and so we were left with the thought this was motor neurone disease and that it could deteriorate very quickly. We talked to the consultant concerned who was, who was terrific always through this and he actually re-worded a letter, more positively in the sense that it, he said that it is a form of motor neurone, but they didn't know what it was and how long it would last.
But the support team at this end really couldn't move at the speed that the disease was taking hold. This is known as inherited or familial MND. See 'Possible causes of MND'. People who had seen other family members with the condition were quick to spot similar symptoms in themselves and to seek diagnosis. One woman whose father and uncle had died of MND was diagnosed within three months of first noticing symptoms, which she thought was unusually fast. Professionals alerted to a family history of MND may also be able to confirm the diagnosis more quickly.
One man whose brother had died of MND did not yet know it was the inherited form, and his symptoms were quite different to his brother's, so a connection was not made straight away. It was only when he was diagnosed that they realised it ran in the family. See Interview 34 - Ken's story.
The first symptoms of these forms are very similar to other more common forms of the condition, so in the early stages it can be difficult to distinguish them.
In PLS, legs, hands or speech can be affected, as well as sense of steadiness in walking, and in PMA it is usually hands or legs. People with these forms generally live longer than people with more common forms of MND, but they share many of the same problems of increasing disability.
See our resources section for further information about the symptoms and progression of these forms. At first his GP reassured him it was nothing to worry about, but referred him to a neurologist View full profile. Well it was about three years ago, it was, in fact it was in November and I noticed I had these fasciculations in my leg, which is like twitching in the leg muscles. And that's the first thing that I thought was wrong.
But I didn't think that I had motor neurone disease then. So I didn't do much about them for about a month because I was just kind of hoping that they would sort of go away and I did look on the Internet to find out about them and you know, that's when I first thought that I might have got motor neurone disease.
But also on the Internet it said that a lot of people have the twitching and it doesn't mean they've got motor neurone disease. So after they didn't go away I went to the GP and the GP examined me and then he said that it was nothing to worry about and but I was still worried about it, about it, so I went back again.
This was kind of over Christmas and I said I was really worried and he said he would phone up a neurologist and ask him. So I was very relieved then. But he did say that he'd make an appointment for me to see the neurologist. And that took through to about April and then I saw the neurologist in April and he, obviously he thought then that I did have motor neurone disease, when, when the neurologist saw me. Because I asked him and in fact we, we went outside and my wife said, 'Why don't you go in and ask him?
So I went in and asked him and he said, 'Well, yeah.
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