Materiały źródłowe

• #1 Diagnosis and management of motor neurone disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2270983/

  Motor neurone disease is a devastating illness which leads to progressive paralysis and eventual death. […] Motor neurone disease is rare but patients often are aware of it, so this review should help non-specialists reassure patients in whom it is unlikely to be the diagnosis. […] A diagnosis of motor neurone disease relies on interpretation of the clinical symptoms and signs and use of investigations to exclude other causes. […] The lack of a definitive test can cause problems, particularly if patients are seen very early after onset of symptoms, when the signs may be limited. […] Several conditions can mimic motor neurone disease and may be treatable, and it is important to consider these. […] Riluzole is the only drug identified to have a beneficial effect on survival, following a double blind, randomised placebo controlled trial in patients with the common amyotrophic lateral sclerosis variant of motor neurone disease.

• #2 How MND is diagnosed – Leeds Teaching Hospitals NHS Trust

  https://www.leedsth.nhs.uk/services/leeds-motor-neurone-disease-mnd-care-centre/your-condition-treatment/how-mnd-is-diagnosed/

  The most important component in the diagnosis of MND is taking a history from a patient and conducting a thorough neurological examination. 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. […] Tests that may be requested by the medical team to help diagnose MND include: […] 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, not all the tests may be performed on every patient.

• #3 Motor Neurone Disease Information & Support | MND Australia | MND Australia

  https://www.mndaustralia.org.au/mnd-connect/for-health-professionals-service-providers/diagnosing-mnd

  The diagnosis of motor neurone disease (MND) is often clinically difficult, and sometimes it is necessary to review a person and observe symptom progression for some time before the diagnosis becomes reasonably certain. […] Rapid and accurate diagnosis is crucial in ensuring the needs of people living with MND are met from the earliest possible stage. […] If MND is suspected is it important to refer the person to a neurologist expert in diagnosing motor neurone disease. A referral to a neurologist at one of the specialist MND Clinics is also advisable to confirm a diagnosis of MND. […] Patients with symptoms suggestive of ALS should be assessed as soon as possible by an experienced neurologist. Early diagnosis should be pursued, and investigations, including neurophysiology, performed with high priority.

• #4 Motor neurone disease (MND) | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/motor-neurone-disease

  Motor neurone disease (MND) is still incurable, but not untreatable many symptoms can be managed. […] MND is still incurable, but it is not untreatable, as many symptoms can be managed. The drug riluzole available on the Pharmaceutical Benefits Scheme has been demonstrated in clinical trials to prolong survival by several months and may help people to remain in the milder phase of the disease for longer. […] Research has shown that people live better and longer under the care of a multidisciplinary team. Interventions such as assistance with nutritional intake and breathing improve quality of life.

• #5 HealthtalkPath to diagnosis of MND | Real People. Real life experiences. | Healthtalk

  https://healthtalk.org/experiences/motor-neurone-disease-mnd/path-diagnosis-mnd/

  Diagnosing motor neurone disease is often a difficult and lengthy process. This is for several reasons. Firstly, MND is comparatively rare. Secondly, it affects each person in a different way; there is no definitive symptom which would immediately suggest the diagnosis. In addition, the early symptoms can be quite mild and could be caused by various other conditions. These need to be ruled out before a diagnosis of MND is given, and no simple test exists to diagnose MND. Several people talked about their tests as a ‘process of elimination’. Progression of symptoms over time provides evidence to support the diagnosis. […] Many of the people we talked to had been experiencing symptoms for months or even years before finally getting a diagnosis. […] Most people, once they went to their GP, felt they had been referred promptly to a specialist in neurological conditions.

• #6 Motor neurone disease: diagnostic pitfalls

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5873720/

  Weak and wasted muscles with retained reflexes is highly suggestive of MND until proven otherwise. Consider the diagnosis when faced with progressive painless weakness in patients over the age of 50. […] The diagnosis of MND is clinical, although usually supported by investigations such as electromyography and nerve conduction studies (EMG/NCS), imaging and blood work. […] Diagnostic criteria for MND exist, but these are not useful in routine clinical practice. […] The misdiagnosis of MND (particularly of the ALS phenotype), is uncommon. Atypical presentations, particularly of focal onset and with pure LMN or UMN signs, present a more difficult diagnostic challenge, although perhaps reassuringly, treatable mimics are rare. A working knowledge of potential alternative conditions and MND diagnostic pitfalls should help to reduce the misdiagnosis rate, particularly if the key points are considered.

• #7 Motor Neurone Disease (MND) – Path to diagnosis of MND

  https://hexi.ox.ac.uk/motor-neurone-disease-mnd/path-to-diagnosis-of-mnd

  Diagnosing motor neurone disease is often a difficult and lengthy process. This is for several reasons. Firstly, MND is comparatively rare. Secondly, it affects each person in a different way; there is no definitive symptom which would immediately suggest the diagnosis. In addition, the early symptoms can be quite mild and could be caused by various other conditions. These need to be ruled out before a diagnosis of MND is given, and no simple test exists to diagnose MND. Several people talked about their tests as a 'process of elimination’. Progression of symptoms over time provides evidence to support the diagnosis. Many of the people we talked to had been experiencing symptoms for months or even years before finally getting a diagnosis. Some lived with their symptoms for a long time before deciding to go to their GP, perhaps putting them down to stress, old age, or injury.

• #8 Mimics and chameleons in motor neurone disease | Practical Neurology

  https://pn.bmj.com/content/13/3/153

  There is no diagnostic test for MND, and the quest for biomarkers is ongoing. […] The most robust marker of prognosis is still the interval from symptom onset to definitive diagnosis, the average for which has remained approximately 1 year, around a third of the median survival from symptom onset. […] The physical signature of classical MND is captured once again, but importantly only in the context of a prior history of progressive weakness. […] There are a handful of key signs on examination that, in the presence of a history of progressive weakness in someone aged over 50 years, should immediately prompt consideration of the diagnosis of MND. […] The common perception that MND patients are premorbidly fitter or more athletic remains attractive but unproven. […] The very rare (2%) patients with a pure UMN syndrome, termed primary lateral sclerosis, are characterised by slow progression, but may be difficult to distinguish from the so-called UMN-predominant forms of ALS.

• #9 Motor Neurone Disease (MND) – Queensland Brain Institute – University of Queensland

  https://qbi.uq.edu.au/the-brain/motor-neurone-disease

  Motor neurone disease (MND) is a rapidly progressing neurological disorder that attacks the nerve cells in the brain and spinal cord controlling the way we walk, talk, eat, speak, and breathe. […] The path to diagnosis can be a long one, and the average time from the onset of symptoms to diagnosis can range anywhere between 10 to 18 months. […] For most patients, the average life expectancy after diagnosis is 27 months. […] Although there is currently no cure for MND, the drug riluzole (sold as Rilutek or APO-Riluzole) is approved in Australia for people with MND. Riluzole cannot cure MND, but for some patients, it can slow the progression of the disease and prolong survival by two to three months.

• #10 Mimics and chameleons in motor neurone disease | Practical Neurology

  https://pn.bmj.com/content/13/3/153

  The progression of motor neurone disease (MND) is currently irreversible, and the grave implications of diagnosis naturally fuels concern among neurologists over missing a potential mimic disorder. There is no diagnostic test for MND but in reality there are few plausible mimics in routine clinical practice. […] Lack of confidence about the scope of such variation, or an approach to diagnosis emphasising investigations over clinical common sense, has the potential to exacerbate diagnostic delay in MND and impede timely planning of the care which is essential to maximising quality of life. […] The diagnosis of MND is only very rarely reversed in favour of a treatable disorder and, in our experience, the reaction of the patient in this situation is one of relief not hostility. Conversely, significant distress can arise from avoidable diagnostic delay and this may permanently erode confidence in onward management.

• #11 Motor neurone disease (MND) | NHS inform

  https://www.nhsinform.scot/illnesses-and-conditions/brain-nerves-and-spinal-cord/motor-neurone-disease-mnd/

  Diagnosing motor neurone disease (MND) can be difficult during the early stages. This is because many of the first symptoms can be caused by other more common health conditions like: […] MND is usually diagnosed by a neurologist based on the symptoms and a physical examination. […] There are many reasons why there may be delays in diagnosis. The initial symptoms might not appear to be serious. Or symptoms might not be recognised as being related to the nervous system so a neurologist isnt consulted at first. […] Sometimes, the diagnosis of MND is clear without the need for further tests. Confirming a diagnosis can sometimes be time-consuming even for an experienced neurologist. They might need a period of observation to be sure, particularly in cases where the condition progresses slowly. MND can only be diagnosed if the symptoms are clearly getting worse (progressive).

• #12 Motor neurone disease: diagnostic pitfalls

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5873720/

  Weak and wasted muscles with retained reflexes is highly suggestive of MND until proven otherwise. Consider the diagnosis when faced with progressive painless weakness in patients over the age of 50. […] The diagnosis of MND is clinical, although usually supported by investigations such as electromyography and nerve conduction studies (EMG/NCS), imaging and blood work. […] Diagnostic criteria for MND exist, but these are not useful in routine clinical practice. […] The misdiagnosis of MND (particularly of the ALS phenotype), is uncommon. Atypical presentations, particularly of focal onset and with pure LMN or UMN signs, present a more difficult diagnostic challenge, although perhaps reassuringly, treatable mimics are rare. A working knowledge of potential alternative conditions and MND diagnostic pitfalls should help to reduce the misdiagnosis rate, particularly if the key points are considered.

• #13 Motor Neurone Disease (MND): Causes and Treatment | Doctor

  https://patient.info/doctor/motor-neurone-disease-pro

  Motor neurone disease (MND) is a rare but devastating neurodegenerative condition that affects the brain and spinal cord, leading to progressive paralysis and eventual death. […] Diagnosis should be made after consideration of the clinical signs and symptoms together with investigations to exclude other causes. […] Because of the very variable clinical presentation, the diagnostic criteria below have been devised, taking into account investigations to confirm the diagnosis and refute other possible causes (revised El Escorial Criteria): […] The World Federation of Neurology (WFN) has proposed further revision in the light of advances in neurophysiological techniques which can accurately detect degenerative neurological changes. They recommend upgrading the neurophysiological findings and making them as significant as the clinical findings in the diagnosis of ALS.

• #14 Mimics and chameleons in motor neurone disease | Practical Neurology

  https://pn.bmj.com/content/13/3/153

  The diagnosis of MND is a clinical diagnosis and there are no mandatory investigations. […] An earlier diagnosis allows patients to maximise the quality of their remaining life and improves care-planning. […] A progressive motor syndrome with mixed upper and lower motor neurone signs in more than one body region has few, if any, differential diagnoses. […] Lower motor neurone-predominant monomelic clinical sub-types of MND present the greatest diagnostic challenge but are frequently more slowly progressive. […] Bulbar-onset MND is not uniformly associated with a rapid progression, and symptoms may remain isolated to this territory with apparently normal EMG studies. […] MND overlaps pathologically with frontotemporal dementia and around 10% of MND patients develop pronounced cognitive impairment (typically as an early feature).

• #15 Motor Neuron Disease (MND) – almostadoctor

  https://almostadoctor.co.uk/encyclopedia/motor-neuron-disease-mnd

  Motor neuron disease (aka MND, Motor neurone disease, amyotrophic lateral sclerosis ALS) is degenerative neurological disease, seen worldwide. In MND is degeneration of motor neurons in the motor cortex and spinal cord, affecting both upper and lower motor neurons. […] MND is a general term used to describe several types of motor neurone degeneration. […] Usually diagnosis is clinical, but may be confirmed by EMG and nerve conduction studies. There needs to be: UMN and LMN signs, No sensory signs, Progressive pattern. […] EMG shows denervation and fibrillation. […] Nerve conduction studies will appear normal. Useful to exclude multifocal neuropathy. […] The disease is progressive, and survival is usually less than 3 years. […] No treatments have been proven to improve outcome.

• #16 Motor neurone disease: diagnostic pitfalls

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5873720/

  Weak and wasted muscles with retained reflexes is highly suggestive of MND until proven otherwise. Consider the diagnosis when faced with progressive painless weakness in patients over the age of 50. […] The diagnosis of MND is clinical, although usually supported by investigations such as electromyography and nerve conduction studies (EMG/NCS), imaging and blood work. […] Diagnostic criteria for MND exist, but these are not useful in routine clinical practice. […] The misdiagnosis of MND (particularly of the ALS phenotype), is uncommon. Atypical presentations, particularly of focal onset and with pure LMN or UMN signs, present a more difficult diagnostic challenge, although perhaps reassuringly, treatable mimics are rare. A working knowledge of potential alternative conditions and MND diagnostic pitfalls should help to reduce the misdiagnosis rate, particularly if the key points are considered.

• #17 How MND is diagnosed – Leeds Teaching Hospitals NHS Trust

  https://www.leedsth.nhs.uk/services/leeds-motor-neurone-disease-mnd-care-centre/your-condition-treatment/how-mnd-is-diagnosed/

  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. They will decide which nerves and muscles to test on a case by case basis and then analyse the results to establish whether or not the findings support a diagnosis of MND or are suggestive of another condition. […] Sometimes a patient may have to undergo nerve conduction studies and EMG on more than one occasion so that any changes over time can be identified. […] The medical team may decide to perform an MRI scan based upon a patient’s history and examination. MRI scans are performed in the radiology department and the images are reviewed by a specialist doctor called a radiologist who reports the scan. The MRI scan cannot diagnose motor neurone disease but can look for evidence of other causes of a patient’s symptoms such as damage to the spinal cord in the neck (upper motor neurone) and the nerves that leave the neck to supply the muscles (lower motor neurone) caused by ‘wear and tear’ changes. […] The medical team may decide to perform a lumbar puncture based upon a patient’s history and examination. A lumbar puncture cannot diagnose motor neurone disease but can look for evidence of other causes of a patient’s symptoms (such as inflammation in the spinal cord and brain).

• #18 Motor Neurone Disease Information & Support | MND Australia | MND Australia

  https://www.mndaustralia.org.au/mnd-connect/for-health-professionals-service-providers/diagnosing-mnd

  There is no single diagnostic test for MND. Diagnosis is based on features in the clinical history and examination, usually accompanied by electrophysiological tests including electromyography (EMG) and nerve conduction studies. […] In the early stages of MND, symptoms can be similar to those seen in other conditions, so people may spend months seeing various specialists before a diagnosis is reached. […] Early and expert diagnosis is imperative. […] The diagnosis should be pursued as early as possible. Patients in whom ALS is suspected should be referred with high priority to an experienced neurologist. […] The diagnosis should be communicated by a consultant with a good knowledge of the patient. […] The diagnosis should be given in person, ensuring enough time for discussion. […] Nearly 70% of neurologists reported finding it somewhat to very difficult communicating the MND diagnosis, and 65% reported feeling moderate to high stress and anxiety at the delivery of diagnosis. […] The following comment captures a number of areas needing improvement: All neurologists need to be sensitive that the way they give the diagnosis will have ongoing impacts for life.

• #19 HealthtalkPath to diagnosis of MND | Real People. Real life experiences. | Healthtalk

  https://healthtalk.org/experiences/motor-neurone-disease-mnd/path-diagnosis-mnd/

  However, not all were referred to a neurologist so quickly. […] MND is a rare condition and most GPs will only see one or two people with it in their careers, so they are likely to think first of other conditions or causes for the symptoms. […] The MND Association has worked with The Royal College of General Practitioners (RCGP) to assist early diagnosis of MND. Their Red Flag tool is designed to help GP’s make accurate referrals and therefore reduce the time to diagnosis. […] 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. […] 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.

• #20 Motor Neurone Disease (MND) – Path to diagnosis of MND

  https://hexi.ox.ac.uk/motor-neurone-disease-mnd/path-to-diagnosis-of-mnd

  Most people, once they went to their GP, felt they had been referred promptly to a specialist in neurological conditions. Looking back, some people thought they were lucky to have been diagnosed so quickly. However, not all were referred to a neurologist so quickly. […] 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. […] 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.

• #21 Motor neuron diseases – Wikipedia

  https://en.wikipedia.org/wiki/Motor_neuron_diseases

  All types of MND can be differentiated by two defining characteristics: Is the disease sporadic or inherited? Is there involvement of the upper motor neurons (UMN), the lower motor neurons (LMN), or both? […] The EMG, which evaluates muscle function, and NCS, which evaluates nerve function, are performed together in patients with LMN signs. […] For patients with MND affecting the LMNs, the EMG will show evidence of: (1) acute denervation, which is ongoing as motor neurons degenerate, and (2) chronic denervation and reinnervation of the muscle, as the remaining motor neurons attempt to fill in for lost motor neurons.

• #22 How is MND diagnosed?

  https://www.mndnsw.asn.au/about-mnd/what-is-mnd/49-how-diagnosed.html

  Diagnosing motor neurone disease can be difficult, and so sometimes a diagnosis may take time as the neurologist would like to observe a person over a period of time to see how the symptoms may change or respond to tests. […] Several other neurological conditions resemble motor neurone disease, especially in the early stages, and so these need to be checked for and ruled out as part of the diagnostic process. […] The diagnosis can be assisted through a range of tests, including some which eliminate other conditions. […] Nerve conduction studies (NCS) and electromyography (EMG) are often performed and may help in establishing the diagnosis. […] 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.

• #23 How is MND diagnosed? – MND NZ

  https://mnd.org.nz/about-mnd/what-is-mnd/how-is-mnd-diagnosed/

  If your general practitioner (GP) suspects a neurological problem, you will be referred to a neurologist who does the diagnosis. […] To improve timely referrals MND NZ has a Red Flag MND Diagnosis tool to help GPs. […] If your neurologist believes there is cause for concern you may be sent for a series of diagnostic tests, some of the common tests are listed below. […] This test is sometimes called the needle test, because fine needles are used to record the naturally occurring nerve impulses within certain muscles. […] An electrical impulse is applied through a small pad on the skin, which measures the speed at which your nerves carry electrical signals. […] This procedure is designed to measure the activity of the upper motor neurones; its findings can help in the diagnostic process.

• #24 Diagnosis of MND – MND Victoria

  https://www.mnd.org.au/diagnosis

  Nerve Conduction Studies (NCS): NCS assesses the speed and strength of signals sent along the nerves through the use of a small electrode patch applied to the skin. NCS helps rule out conditions with similar symptoms, like neuropathy, and provides important data on nerve health, which is essential for distinguishing MND from other neuromuscular diseases. […] Medical Imaging […] Medical Imaging such as a Magnetic Resonance Imagery (MRI) scan cannot directly diagnose MND, but plays an essential role in ruling out other neurological conditions that could cause similar symptoms. MRI imaging can help identify conditions such as multiple sclerosis, spinal cord tumours, or stroke, which may have overlapping symptoms with MND. […] Blood and Genetic Tests […] Blood Tests: Blood tests help rule out other possible causes of symptoms, including metabolic or infectious diseases. While these tests don’t diagnose MND, they are important for excluding muscle diseases and other conditions that can mimic its symptoms.

• #25 Motor Neurone Disease Breakthroughs | Open Medscience

  https://openmedscience.com/motor-neurone-disease-diagnosis-and-future-research-insights/

  PET imaging, often combined with computed tomography (CT), is increasingly being used in MND research and diagnosis. […] TMS is a non-invasive technique for assessing the functional integrity of the motor cortex and corticospinal tract. […] Muscle ultrasound is a useful tool for assessing muscle atrophy and fasciculations in MND. […] Currently, there is no cure for MND, and treatment focuses on managing symptoms, improving quality of life, and slowing disease progression. […] Riluzole is the only drug approved by regulatory agencies such as the FDA and EMA for the treatment of ALS. […] Edaravone is another drug that has been approved for the treatment of ALS in several countries. […] ASOs are a promising class of drugs that target specific genetic mutations associated with MND.

• #26 HealthtalkPath to diagnosis of MND | Real People. Real life experiences. | Healthtalk

  https://healthtalk.org/experiences/motor-neurone-disease-mnd/path-diagnosis-mnd/

  Nerve Conduction Tests: may be carried out at the same time as the EMG. 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. […] 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.

• #27 Motor Neurone Disease Breakthroughs | Open Medscience

  https://openmedscience.com/motor-neurone-disease-diagnosis-and-future-research-insights/

  Motor neurone disease (MND) is a progressive neurodegenerative disorder characterised by the degeneration of motor neurones, which leads to muscle weakness, atrophy, and eventually death. […] Diagnostic imaging plays a crucial role in identifying and differentiating MND from other neurological disorders. […] Diagnostic imaging plays a vital role in the assessment and management of MND. While there is no single definitive test for MND, imaging techniques can help rule out other conditions that mimic MND and can provide insights into disease progression. […] MRI is the most commonly used imaging modality in the diagnosis of MND. It is particularly useful for excluding other neurological conditions, such as multiple sclerosis, tumours, and structural abnormalities that could cause similar symptoms.

• #28 How is MND diagnosed? | MND Association

  https://www.mndassociation.org/about-mnd/mnd-explained/how-is-mnd-diagnosed

  There is no single test to work out if you have MND. Getting MND diagnosed involves assessment by a neurologist and tests to rule out other causes. […] It took several tests and visits to different places before MND was diagnosed. […] If your neurologist thinks a neurological problem is causing your symptoms, they may do tests. There is no single test to get MND diagnosed, but a range of tests can help rule out other causes. […] TMS measures the activity of the upper motor neurones to help diagnosis. […] An MRI scan involves being placed in a cylinder-like machine. The machine takes internal images of the body and your neurologist uses these to help rule out conditions such as stroke, Alzheimers disease, Parkinsons disease, multiple sclerosis, tumours and trapped nerves. These scans can also detect injury to the spine and brain.

• #29 How is MND diagnosed? | MND Association

  https://www.mndassociation.org/about-mnd/mnd-explained/how-is-mnd-diagnosed

  There is no single test to work out if you have MND. Getting MND diagnosed involves assessment by a neurologist and tests to rule out other causes. […] It took several tests and visits to different places before MND was diagnosed. […] If your neurologist thinks a neurological problem is causing your symptoms, they may do tests. There is no single test to get MND diagnosed, but a range of tests can help rule out other causes. […] TMS measures the activity of the upper motor neurones to help diagnosis. […] An MRI scan involves being placed in a cylinder-like machine. The machine takes internal images of the body and your neurologist uses these to help rule out conditions such as stroke, Alzheimers disease, Parkinsons disease, multiple sclerosis, tumours and trapped nerves. These scans can also detect injury to the spine and brain.

• #30

  https://www.mndqld.org.au/page/66/diagnosis-and-tests

  Motor neurone disease (MND) can be difficult to diagnose because the initial symptoms can be similar to many other conditions. […] Neurologists will often use a series of tests to eliminate other conditions before making a definitive diagnosis of MND. They will often request a second Neurologist consultation to confirm the diagnosis. […] Tests may include: Blood tests to look for a rise in a creatine kinase, which is produced when muscle breaks down. […] Nerve conduction studies (NCS), which involve taping electrodes over nerves and recording muscle activity when nerves are stimulated by electrical impulses. […] Electromyography (EMG), which involves inserting a needle electrode into muscles to measure their electrical activity. […] Magnetic Resonance Imagery (MRI) scans, which involve being placed in a cylinder-like machine. The machine takes images of the internal structures of the body and can show up damaged areas. An MRI scan will not diagnose Motor Neurone Disease, as the damage caused by this disease does not show up on this scan. However, it may be used to eliminate other conditions which can mimic symptoms of MND.

• #31 How is MND diagnosed? | MND Association

  https://www.mndassociation.org/about-mnd/mnd-explained/how-is-mnd-diagnosed

  There is no single test to work out if you have MND. Getting MND diagnosed involves assessment by a neurologist and tests to rule out other causes. […] It took several tests and visits to different places before MND was diagnosed. […] If your neurologist thinks a neurological problem is causing your symptoms, they may do tests. There is no single test to get MND diagnosed, but a range of tests can help rule out other causes. […] TMS measures the activity of the upper motor neurones to help diagnosis. […] An MRI scan involves being placed in a cylinder-like machine. The machine takes internal images of the body and your neurologist uses these to help rule out conditions such as stroke, Alzheimers disease, Parkinsons disease, multiple sclerosis, tumours and trapped nerves. These scans can also detect injury to the spine and brain.

• #32 Motor Neurone Disease Breakthroughs | Open Medscience

  https://openmedscience.com/motor-neurone-disease-diagnosis-and-future-research-insights/

  PET imaging, often combined with computed tomography (CT), is increasingly being used in MND research and diagnosis. […] TMS is a non-invasive technique for assessing the functional integrity of the motor cortex and corticospinal tract. […] Muscle ultrasound is a useful tool for assessing muscle atrophy and fasciculations in MND. […] Currently, there is no cure for MND, and treatment focuses on managing symptoms, improving quality of life, and slowing disease progression. […] Riluzole is the only drug approved by regulatory agencies such as the FDA and EMA for the treatment of ALS. […] Edaravone is another drug that has been approved for the treatment of ALS in several countries. […] ASOs are a promising class of drugs that target specific genetic mutations associated with MND.

• #33 How is MND diagnosed? – MND NZ

  https://mnd.org.nz/about-mnd/what-is-mnd/how-is-mnd-diagnosed/

  An MRI scan will not diagnose MND, because the damage caused by MND does not show up on this scan. […] Like MRI, blood tests cannot diagnose MND, but are useful in some cases to exclude other conditions that may resemble MND. […] These tests are done to assess the strength of the breathing muscles and may be used to determine whether breathlessness is due to muscle weakness, or some other reason (e.g. asthma or emphysema).

• #34 HealthtalkPath to diagnosis of MND | Real People. Real life experiences. | Healthtalk

  https://healthtalk.org/experiences/motor-neurone-disease-mnd/path-diagnosis-mnd/

  Nerve Conduction Tests: may be carried out at the same time as the EMG. 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. […] 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.

• #35 How MND is diagnosed – Leeds Teaching Hospitals NHS Trust

  https://www.leedsth.nhs.uk/services/leeds-motor-neurone-disease-mnd-care-centre/your-condition-treatment/how-mnd-is-diagnosed/

  The most important component in the diagnosis of MND is taking a history from a patient and conducting a thorough neurological examination. 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. […] Tests that may be requested by the medical team to help diagnose MND include: […] 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, not all the tests may be performed on every patient.

• #36 How MND is diagnosed – Leeds Teaching Hospitals NHS Trust

  https://www.leedsth.nhs.uk/services/leeds-motor-neurone-disease-mnd-care-centre/your-condition-treatment/how-mnd-is-diagnosed/

  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. They will decide which nerves and muscles to test on a case by case basis and then analyse the results to establish whether or not the findings support a diagnosis of MND or are suggestive of another condition. […] Sometimes a patient may have to undergo nerve conduction studies and EMG on more than one occasion so that any changes over time can be identified. […] The medical team may decide to perform an MRI scan based upon a patient’s history and examination. MRI scans are performed in the radiology department and the images are reviewed by a specialist doctor called a radiologist who reports the scan. The MRI scan cannot diagnose motor neurone disease but can look for evidence of other causes of a patient’s symptoms such as damage to the spinal cord in the neck (upper motor neurone) and the nerves that leave the neck to supply the muscles (lower motor neurone) caused by ‘wear and tear’ changes. […] The medical team may decide to perform a lumbar puncture based upon a patient’s history and examination. A lumbar puncture cannot diagnose motor neurone disease but can look for evidence of other causes of a patient’s symptoms (such as inflammation in the spinal cord and brain).

• #37 Motor Neurone Disease Diagnosis | MND | Total Community Care

  https://totalcommunitycare.co.uk/motor-neurone-disease/

  Blood tests, to look for signs of muscle wasting, inflammatory response, and other problems that can accompany MND. […] Nerve conduction studies these are tests where a tiny electrical impulse is used to stimulate a nerve, and the way this signal is passed through the nerve is measured. […] Electromyography this is a way of measuring the way the muscles respond to small electrical impulses. […] Lumbar puncture (LP) an LP involves taking a small sample of the fluid around the spinal cord with a fine needle. […] This can look for other causes of MND-type symptoms, like infections or inflammation affecting the brain and spinal cord. […] Magnetic Resonance Imaging (MRI) this is a very detailed scan to look for some other causes of symptoms which may mimic MND. An MRI can show some kinds of damage and inflammation around the brain, spinal cord, and nerves.

• #38 HealthtalkPath to diagnosis of MND | Real People. Real life experiences. | Healthtalk

  https://healthtalk.org/experiences/motor-neurone-disease-mnd/path-diagnosis-mnd/

  In about 5-10% of people, there is a family history of the condition, indicating that the disease is caused by a variant of a gene which is passed through the generations. This is known as inherited or familial MND. […] A few people diagnosed with MND will be told they have a less common form of the condition such as PLS (primary lateral sclerosis) or PMA (progressive muscular atrophy). PLS affects only the upper motor neurones, and PMA only the lower motor neurones. 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.

• #39 Motor Neurone Disease (MND) – Path to diagnosis of MND

  https://hexi.ox.ac.uk/motor-neurone-disease-mnd/path-to-diagnosis-of-mnd

  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. […] In about 5-10% of people, there is a family history of the condition (MND Association 2017), indicating that the disease is caused by a variant of a gene which is passed through the generations. This is known as inherited or familial MND. […] Some people diagnosed with MND will be told they have a less common form of the condition such as PLS (primary lateral sclerosis) or PMA (progressive muscular atrophy). PLS affects only the upper motor neurones, and PMA only the lower motor neurones. 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.

• #40 Diagnosis of MND – MND Victoria

  https://www.mnd.org.au/diagnosis

  At what age is MND most commonly diagnosed? […] MND is most commonly diagnosed in people between the ages of 50 and 70, with an average age of diagnosis around 60. Although rare, cases have been diagnosed in younger adults and even children. […] Can genetic testing confirm MND? […] Genetic testing can identify mutations associated with familial MND in about 10% of cases. However, the majority of MND cases are sporadic, with no known genetic cause. Genetic testing is primarily used for those with a strong family history of the disease and should be preceded with genetic counselling. […] What tests are essential for diagnosing MND? […] Key diagnostic tests for MND include electromyography (EMG), nerve conduction studies (NCS), and Medical Resonance Imagery (MRI) scans. EMG and NCS assess nerve and muscle function, while MRI scans help rule out other conditions.

• #41 Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members | European Journal of Human Genetics

  https://www.nature.com/articles/s41431-024-01718-4

  Motor neuron disease (MND), also referred to as amyotrophic lateral sclerosis (ALS), is a monogenic disease in a minority of cases, with autosomal dominant inheritance. […] Despite this, there is no evidence-based guideline for predictive genetic testing in MND. […] MND remains a clinical diagnosis, and neurological examination typically shows a combination of upper motor neuron (UMN) and lower motor neuron (LMN) signs. […] There are currently no specific diagnostic tools for MND. […] Given the large number of potential causal genes, genomic diagnosis of MND requires genome or exome based testing (rather than single gene testing in Huntingtons Disease). […] Predictive genetic testing refers to testing for causal monogenic variants and not loci from GWAS or polygenic risk scores. […] In the UK, everyone diagnosed with MND is eligible for genomic testing, with reporting of a panel of neurodegeneration linked genes on a whole genome sequencing backbone.

• #42 Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members | European Journal of Human Genetics

  https://www.nature.com/articles/s41431-024-01718-4

  Given the genomic heterogeneity of MND, testing an unaffected relative for variants in a panel of MND-linked genes might prove inaccurate if the causal gene in the affected relative was not included. […] Pathogenic and likely pathogenic variants in MND-linked genes are overrepresented in population cohorts and databases such as gnomAD. […] Reduced penetrance can introduce complications for family members considering predictive testing, and should be carefully explained during genetic counselling to help them weigh up the utility of predictive testing and consider their own tolerance for uncertainty. […] For most MND-linked genes, there are no specific disease modifying therapies. […] The motor phenotype of MND can vary, even within a family. […] There is extensive evidence on the psychosocial impact of predictive genetic testing for HD. In contrast, the research evidence in MND is limited – making it difficult to appreciate the risk: benefit ratio for predictive testing in these families. […] The need for improved post-test support has been emphasised, with suggestions including mandatory tailored counselling sessions, peer support opportunities, ongoing monitoring, and an information sheet with next steps, including how to participate in research.

• #43 Motor neurone disease (MND)

  https://www.nhs.uk/conditions/motor-neurone-disease/

  If a GP thinks you might have motor neurone disease (MND), they may refer you to a brain and nerve specialist (neurologist) for an assessment and some tests. […] Tests used to help diagnose MND include: blood tests, tests to check how well your nerves are working, an MRI scan to help rule out other conditions that affect the brain and nerves. […] MND can be difficult to diagnose in the early stages. But as the symptoms get worse it can usually be confirmed.

• #44 Motor Neurone Disease Information & Support | MND Australia | MND Australia

  https://www.mndaustralia.org.au/mnd-connect/for-health-professionals-service-providers/diagnosing-mnd

  There is no single diagnostic test for MND. Diagnosis is based on features in the clinical history and examination, usually accompanied by electrophysiological tests including electromyography (EMG) and nerve conduction studies. […] In the early stages of MND, symptoms can be similar to those seen in other conditions, so people may spend months seeing various specialists before a diagnosis is reached. […] Early and expert diagnosis is imperative. […] The diagnosis should be pursued as early as possible. Patients in whom ALS is suspected should be referred with high priority to an experienced neurologist. […] The diagnosis should be communicated by a consultant with a good knowledge of the patient. […] The diagnosis should be given in person, ensuring enough time for discussion. […] Nearly 70% of neurologists reported finding it somewhat to very difficult communicating the MND diagnosis, and 65% reported feeling moderate to high stress and anxiety at the delivery of diagnosis. […] The following comment captures a number of areas needing improvement: All neurologists need to be sensitive that the way they give the diagnosis will have ongoing impacts for life.

• #45 Motor Neurone Disease Information & Support | MND Australia | MND Australia

  https://www.mndaustralia.org.au/mnd-connect/for-health-professionals-service-providers/diagnosing-mnd

  The diagnosis of motor neurone disease (MND) is often clinically difficult, and sometimes it is necessary to review a person and observe symptom progression for some time before the diagnosis becomes reasonably certain. […] Rapid and accurate diagnosis is crucial in ensuring the needs of people living with MND are met from the earliest possible stage. […] If MND is suspected is it important to refer the person to a neurologist expert in diagnosing motor neurone disease. A referral to a neurologist at one of the specialist MND Clinics is also advisable to confirm a diagnosis of MND. […] Patients with symptoms suggestive of ALS should be assessed as soon as possible by an experienced neurologist. Early diagnosis should be pursued, and investigations, including neurophysiology, performed with high priority.

• #46 Diagnosing MND

  https://www.mndnsw.org.au/information-professionals/1648-diagnosing-mnd.html

  The diagnosis of motor neurone disease (MND) is often difficult and may require observing symptom progression for some time before the diagnosis can be given with some certainty. […] Timely referrals and diagnosis is crucial in ensuring the needs of people living with MND are met from the earliest possible stage. […] If MND is suspected, it is important to refer the person to a neurologist with experience in diagnosing motor neurone disease. A referral to a neurologist at one of the specialist MND Clinics is also advisable to confirm a diagnosis of MND.

• #47 HealthtalkPath to diagnosis of MND | Real People. Real life experiences. | Healthtalk

  https://healthtalk.org/experiences/motor-neurone-disease-mnd/path-diagnosis-mnd/

  However, not all were referred to a neurologist so quickly. […] MND is a rare condition and most GPs will only see one or two people with it in their careers, so they are likely to think first of other conditions or causes for the symptoms. […] The MND Association has worked with The Royal College of General Practitioners (RCGP) to assist early diagnosis of MND. Their Red Flag tool is designed to help GP’s make accurate referrals and therefore reduce the time to diagnosis. […] 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. […] 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.

• #48 Multidisciplinary management of motor neurone disease

  https://www1.racgp.org.au/ajgp/2018/september/multidisciplinary-management-of-motor-neurone-dise

  Given its progressive and debilitating nature and the lack of cure, management of MND is focused on symptomatic relief, optimising quality of life and timely palliative care involvement. Early referral to a dedicated MND multidisciplinary clinic is important to address the multiple facets and highly specific and complex individual care needs of this group. […] Riluzole, an anti-glutamatergic agent, is a disease-modifying, neuroprotective therapy that prolongs survival in ALS by approximately three months. […] Multidisciplinary clinics, when compared with traditional models of standardised outpatient care, improve survival in ALS patients. […] Health-related instruments that measure quality of life, such as the Revised ALS Functional Rating Scale, are simple yet valuable tools used in these multidisciplinary clinics to assess function and predict survival in ALS patients.

• #49 Multidisciplinary management of motor neurone disease

  https://www1.racgp.org.au/ajgp/2018/september/multidisciplinary-management-of-motor-neurone-dise

  MND polyclinics involve a coordinated team, either physically present or via referral, that includes senior nursing staff, rehabilitation physicians, palliative care physicians, neurologists, gastroenterologists, respiratory physicians, speech pathologists, physiotherapists, occupational therapists, social workers, psychiatrists, psychologists and dietitians. […] The role of palliative care is to offer a holistic approach to the care of the patient by providing adequate symptom relief, respite and planning for end-of-life care and to address psychosocial needs. […] MND is an umbrella term for a group of neurodegenerative disorders characterised by an inexorable decline to death. GPs may reasonably expect to encounter at least one patient with MND during their careers, and it is useful for GPs to have a framework to understand the multidisciplinary management of this complex group of diseases.

• #50 Motor neurone disease (MND) | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/motor-neurone-disease

  Motor neurone disease (MND) is still incurable, but not untreatable many symptoms can be managed. […] MND is still incurable, but it is not untreatable, as many symptoms can be managed. The drug riluzole available on the Pharmaceutical Benefits Scheme has been demonstrated in clinical trials to prolong survival by several months and may help people to remain in the milder phase of the disease for longer. […] Research has shown that people live better and longer under the care of a multidisciplinary team. Interventions such as assistance with nutritional intake and breathing improve quality of life.

• #51 Multidisciplinary management of motor neurone disease

  https://www1.racgp.org.au/ajgp/2018/september/multidisciplinary-management-of-motor-neurone-dise

  Given its progressive and debilitating nature and the lack of cure, management of MND is focused on symptomatic relief, optimising quality of life and timely palliative care involvement. Early referral to a dedicated MND multidisciplinary clinic is important to address the multiple facets and highly specific and complex individual care needs of this group. […] Riluzole, an anti-glutamatergic agent, is a disease-modifying, neuroprotective therapy that prolongs survival in ALS by approximately three months. […] Multidisciplinary clinics, when compared with traditional models of standardised outpatient care, improve survival in ALS patients. […] Health-related instruments that measure quality of life, such as the Revised ALS Functional Rating Scale, are simple yet valuable tools used in these multidisciplinary clinics to assess function and predict survival in ALS patients.

• #52 Diagnosis and management of motor neurone disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2270983/

  Motor neurone disease is a devastating illness which leads to progressive paralysis and eventual death. […] Motor neurone disease is rare but patients often are aware of it, so this review should help non-specialists reassure patients in whom it is unlikely to be the diagnosis. […] A diagnosis of motor neurone disease relies on interpretation of the clinical symptoms and signs and use of investigations to exclude other causes. […] The lack of a definitive test can cause problems, particularly if patients are seen very early after onset of symptoms, when the signs may be limited. […] Several conditions can mimic motor neurone disease and may be treatable, and it is important to consider these. […] Riluzole is the only drug identified to have a beneficial effect on survival, following a double blind, randomised placebo controlled trial in patients with the common amyotrophic lateral sclerosis variant of motor neurone disease.

• #53 Motor Neurone Disease Information & Support | MND Australia | MND Australia

  https://www.mndaustralia.org.au/mnd-connect/for-health-professionals-service-providers/diagnosing-mnd

  There is no single diagnostic test for MND. Diagnosis is based on features in the clinical history and examination, usually accompanied by electrophysiological tests including electromyography (EMG) and nerve conduction studies. […] In the early stages of MND, symptoms can be similar to those seen in other conditions, so people may spend months seeing various specialists before a diagnosis is reached. […] Early and expert diagnosis is imperative. […] The diagnosis should be pursued as early as possible. Patients in whom ALS is suspected should be referred with high priority to an experienced neurologist. […] The diagnosis should be communicated by a consultant with a good knowledge of the patient. […] The diagnosis should be given in person, ensuring enough time for discussion. […] Nearly 70% of neurologists reported finding it somewhat to very difficult communicating the MND diagnosis, and 65% reported feeling moderate to high stress and anxiety at the delivery of diagnosis. […] The following comment captures a number of areas needing improvement: All neurologists need to be sensitive that the way they give the diagnosis will have ongoing impacts for life.

• #54 How is MND diagnosed? | MND Association

  https://www.mndassociation.org/about-mnd/mnd-explained/how-is-mnd-diagnosed

  There is no single test to work out if you have MND. Getting MND diagnosed involves assessment by a neurologist and tests to rule out other causes. […] It took several tests and visits to different places before MND was diagnosed. […] If your neurologist thinks a neurological problem is causing your symptoms, they may do tests. There is no single test to get MND diagnosed, but a range of tests can help rule out other causes. […] TMS measures the activity of the upper motor neurones to help diagnosis. […] An MRI scan involves being placed in a cylinder-like machine. The machine takes internal images of the body and your neurologist uses these to help rule out conditions such as stroke, Alzheimers disease, Parkinsons disease, multiple sclerosis, tumours and trapped nerves. These scans can also detect injury to the spine and brain.

• #55 Pathology of Motor Neuron Disorders: Definition, Etiology, Epidemiology

  https://emedicine.medscape.com/article/2111360-overview

  Motor neuron disorders (MNDs) are a clinically and pathologically heterogeneous group of neurologic diseases characterized by progressive degeneration of motor neurons; they include both sporadic and hereditary diseases. […] MNDs can be classified into those affecting primarily the UMNs, those affecting primarily the LMNs, and those affecting both, and the nomenclature is used accordingly. The patients symptoms vary, depending on which set of motor neurons is involved. […] ALS, also known as Lou Gehrig disease, is the most common neurodegenerative disease of adult onset involving the motor neuron system. It is a fatal disorder and is characterized by progressive skeletal muscle weakness and wasting or atrophy (ie, amyotrophy), spasticity, and fasciculations as a result of degeneration of the UMNs and LMNs, culminating in respiratory paralysis.

• #56 Motor neuron disease/ALS | UK DRI

  https://www.ukdri.ac.uk/conditions/motor-neuron-diseaseals

  Motor neuron disease (MND) is the general name that’s given to a group of illnesses which can affect nerves called motor neurons in the brain and spinal cord. […] The most common subtype of MND is amyotrophic lateral sclerosis (ALS), which contributes approximately 90% of cases. […] If you or someone you care about is experiencing symptoms of motor neuron disease/ALS, please contact a GP for an accurate diagnosis and to rule out other conditions. […] There is no single diagnostic test for MND/ALS; instead, diagnosis is based on a combination of clinical history and a medical examination. Various tests such as electromyography or nerve conduction may also be carried out. […] Electromyography (EMG) is a type of diagnostic test that’s used to assess the health of muscles and the nerve cells (or motor neurons) that control them.

• #57 HealthtalkPath to diagnosis of MND | Real People. Real life experiences. | Healthtalk

  https://healthtalk.org/experiences/motor-neurone-disease-mnd/path-diagnosis-mnd/

  In about 5-10% of people, there is a family history of the condition, indicating that the disease is caused by a variant of a gene which is passed through the generations. This is known as inherited or familial MND. […] A few people diagnosed with MND will be told they have a less common form of the condition such as PLS (primary lateral sclerosis) or PMA (progressive muscular atrophy). PLS affects only the upper motor neurones, and PMA only the lower motor neurones. 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.

• #58 Motor Neurone Disease (MND) – Path to diagnosis of MND

  https://hexi.ox.ac.uk/motor-neurone-disease-mnd/path-to-diagnosis-of-mnd

  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. […] In about 5-10% of people, there is a family history of the condition (MND Association 2017), indicating that the disease is caused by a variant of a gene which is passed through the generations. This is known as inherited or familial MND. […] Some people diagnosed with MND will be told they have a less common form of the condition such as PLS (primary lateral sclerosis) or PMA (progressive muscular atrophy). PLS affects only the upper motor neurones, and PMA only the lower motor neurones. 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.

• #59 What’s the difference between MND and ALS? – Oxford University Hospitals

  https://www.ouh.nhs.uk/services/departments/neurosciences/neurology/mnd/support/mnd-als.aspx

  The term Motor Neuron Disease (MND) encompasses several different conditions whose common feature is the premature degeneration of motor nerves (known as neurons or sometimes neurones). […] MND was first described in the mid-late 1800s, and the French Neurologist Jean-Martin Charcot is widely credited with the first detailed descriptions. […] Charcot’s genius was to recognise that in MND both processes were occurring simultaneously. He called it Amyotrophic Lateral Sclerosis (ALS). […] Nearly 90 percent of patients with MND have the mixed ALS form of the disease, so that the terms MND and ALS are commonly used to mean the same thing. […] There are other ways that neurologists sometimes categorise MND cases. One method is by the site where the disease symptoms being – for example if it is in the speech and swallowing motor nerves (which arise from the 'bulb’ of the brain stem) then it is termed bulbar-onset MND.

• #60 Motor Neurone Disease Information & Support | MND Australia | MND Australia

  https://www.mndaustralia.org.au/mnd-connect/for-health-professionals-service-providers/diagnosing-mnd

  There is no single diagnostic test for MND. Diagnosis is based on features in the clinical history and examination, usually accompanied by electrophysiological tests including electromyography (EMG) and nerve conduction studies. […] In the early stages of MND, symptoms can be similar to those seen in other conditions, so people may spend months seeing various specialists before a diagnosis is reached. […] Early and expert diagnosis is imperative. […] The diagnosis should be pursued as early as possible. Patients in whom ALS is suspected should be referred with high priority to an experienced neurologist. […] The diagnosis should be communicated by a consultant with a good knowledge of the patient. […] The diagnosis should be given in person, ensuring enough time for discussion. […] Nearly 70% of neurologists reported finding it somewhat to very difficult communicating the MND diagnosis, and 65% reported feeling moderate to high stress and anxiety at the delivery of diagnosis. […] The following comment captures a number of areas needing improvement: All neurologists need to be sensitive that the way they give the diagnosis will have ongoing impacts for life.

• #61 Motor Neurone Disease Information & Support | MND Australia | MND Australia

  https://www.mndaustralia.org.au/mnd-connect/for-health-professionals-service-providers/diagnosing-mnd

  There is no single diagnostic test for MND. Diagnosis is based on features in the clinical history and examination, usually accompanied by electrophysiological tests including electromyography (EMG) and nerve conduction studies. […] In the early stages of MND, symptoms can be similar to those seen in other conditions, so people may spend months seeing various specialists before a diagnosis is reached. […] Early and expert diagnosis is imperative. […] The diagnosis should be pursued as early as possible. Patients in whom ALS is suspected should be referred with high priority to an experienced neurologist. […] The diagnosis should be communicated by a consultant with a good knowledge of the patient. […] The diagnosis should be given in person, ensuring enough time for discussion. […] Nearly 70% of neurologists reported finding it somewhat to very difficult communicating the MND diagnosis, and 65% reported feeling moderate to high stress and anxiety at the delivery of diagnosis. […] The following comment captures a number of areas needing improvement: All neurologists need to be sensitive that the way they give the diagnosis will have ongoing impacts for life.

• #62 Motor neurone disease (MND) | NHS inform

  https://www.nhsinform.scot/illnesses-and-conditions/brain-nerves-and-spinal-cord/motor-neurone-disease-mnd/

  After youre diagnosed you should be provided with contact details of an MND care specialist. These are healthcare professionals with specialist experience caring for people with MND. Theyll be able to give you (and your family) extra support after the diagnosis and during your time with the illness.

• #63 Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members | European Journal of Human Genetics

  https://www.nature.com/articles/s41431-024-01718-4

  Given the genomic heterogeneity of MND, testing an unaffected relative for variants in a panel of MND-linked genes might prove inaccurate if the causal gene in the affected relative was not included. […] Pathogenic and likely pathogenic variants in MND-linked genes are overrepresented in population cohorts and databases such as gnomAD. […] Reduced penetrance can introduce complications for family members considering predictive testing, and should be carefully explained during genetic counselling to help them weigh up the utility of predictive testing and consider their own tolerance for uncertainty. […] For most MND-linked genes, there are no specific disease modifying therapies. […] The motor phenotype of MND can vary, even within a family. […] There is extensive evidence on the psychosocial impact of predictive genetic testing for HD. In contrast, the research evidence in MND is limited – making it difficult to appreciate the risk: benefit ratio for predictive testing in these families. […] The need for improved post-test support has been emphasised, with suggestions including mandatory tailored counselling sessions, peer support opportunities, ongoing monitoring, and an information sheet with next steps, including how to participate in research.

• #64 Talk therapy can improve quality of life for people with MND | UCL News – UCL – University College London

  https://www.ucl.ac.uk/news/2024/may/talk-therapy-can-improve-quality-life-people-mnd

  MND is a progressive, neurodegenerative disease with no cure. It affects motor neurons, which are found in the brain and spinal cord, that help tell your muscles what to do. MND causes these messages to stop reaching the muscles, causing them to weaken, stiffen and gradually die. […] This study provides strong evidence that Acceptance and Commitment Therapy can be a valuable tool for improving quality of life for the 5,000 people who are currently living with MND in the UK. […] The results were positive, with ACT plus usual care shown to be effective at maintaining or improving quality of life in patients with MND at six and nine months post-randomisation compared to usual care alone. […] The primary outcome of the trial, which started recruitment in 2019, measured a patients quality of life using a standardised questionnaire, as well as assessing depression, anxiety and other factors.

• #65 Talk therapy can improve quality of life for people with MND | UCL News – UCL – University College London

  https://www.ucl.ac.uk/news/2024/may/talk-therapy-can-improve-quality-life-people-mnd

  The COMMEND study shows psychological support can be effective in improving quality of life and that there is clear clinical benefit in Acceptance Commitment Therapy specifically. It is therefore important these findings are taken forward and consideration is given to offering psychological support, such as ACT, within the standard care package to all those who may benefit from it.

• #66 Motor Neurone Disease Breakthroughs | Open Medscience

  https://openmedscience.com/motor-neurone-disease-diagnosis-and-future-research-insights/

  Understanding the mechanisms of action of current treatments is crucial for developing more effective therapies. […] The future of MND research is focused on uncovering the underlying mechanisms of the disease and developing novel therapeutic approaches. […] One of the significant challenges in MND research is the lack of reliable biomarkers for early diagnosis and disease monitoring. […] The future of MND research holds promise, with emerging therapies such as gene editing, stem cell transplantation, and immunotherapy offering hope for more effective treatments. […] Ultimately, continued research and collaboration across disciplines will be essential to unlock new insights into MND and improve the lives of those affected by this relentless disease.

• #67 Revolutionary new tool detects signs of motor neurone disease before symptoms begin | News | The University of Aberdeen

  https://www.abdn.ac.uk/news/22988/

  Revolutionary new tool detects signs of motor neurone disease before symptoms begin […] Scientists from the University of Aberdeen in collaboration with the University of Edinburgh and international partners, have identified a new way to detect signs of motor neurone disease (MND) in brain tissue that can pick up indicators of MND earlier and with more sensitivity than currently used tests. […] The TDP-43 aptamer identified damaged cell proteins in brain tissue samples that can indicate MND before the cells malfunction – when symptoms would start to appear and the is stage at which current tools can detect signs of the disease. […] Dr Holly Spence, a co-author of the study from the University of Aberdeen said: Our findings have implications for early diagnostics and intervention prior to symptom onset in MND.

• #68 Revolutionary new tool detects signs of motor neurone disease before symptoms begin | News | The University of Aberdeen

  https://www.abdn.ac.uk/news/22988/

  Revolutionary new tool detects signs of motor neurone disease before symptoms begin […] Scientists from the University of Aberdeen in collaboration with the University of Edinburgh and international partners, have identified a new way to detect signs of motor neurone disease (MND) in brain tissue that can pick up indicators of MND earlier and with more sensitivity than currently used tests. […] The TDP-43 aptamer identified damaged cell proteins in brain tissue samples that can indicate MND before the cells malfunction – when symptoms would start to appear and the is stage at which current tools can detect signs of the disease. […] Dr Holly Spence, a co-author of the study from the University of Aberdeen said: Our findings have implications for early diagnostics and intervention prior to symptom onset in MND.

• #69 Revolutionary new tool detects signs of motor neurone disease before symptoms begin | News | The University of Aberdeen

  https://www.abdn.ac.uk/news/22988/

  Revolutionary new tool detects signs of motor neurone disease before symptoms begin […] Scientists from the University of Aberdeen in collaboration with the University of Edinburgh and international partners, have identified a new way to detect signs of motor neurone disease (MND) in brain tissue that can pick up indicators of MND earlier and with more sensitivity than currently used tests. […] The TDP-43 aptamer identified damaged cell proteins in brain tissue samples that can indicate MND before the cells malfunction – when symptoms would start to appear and the is stage at which current tools can detect signs of the disease. […] Dr Holly Spence, a co-author of the study from the University of Aberdeen said: Our findings have implications for early diagnostics and intervention prior to symptom onset in MND.

• #70 Simple blood test could one day diagnose motor neurone disease : Broadcast: News items : University of Sussex

  https://www.sussex.ac.uk/broadcast/read/52254

  Scientists at the University of Sussex have identified a potential pattern within blood which signals the presence of motor neuron disease; a discovery which could significantly improve diagnosis. […] Currently, it can take up to a year for a patient to be diagnosed with amyotrophic lateral sclerosis (ALS), more commonly known as motor neuron disease (MND). […] Researchers hope that their findings, published in the journal Brain Communications, and funded by the Motor Neurone Disease Association (MNDA), could lead to the development of a blood test which will identify the unique biomarker, significantly simplifying and speeding up diagnosis. […] In order to effectively diagnose and treat ALS, we are in urgent need of biomarkers as a tool for early diagnosis and for monitoring the efficacy of therapeutic interventions in clinical trials.

• #71 Simple blood test could one day diagnose motor neurone disease : Broadcast: News items : University of Sussex

  https://www.sussex.ac.uk/broadcast/read/52254

  We found a biomarker signature for motor neurone disease that is made up of a combination of seven ncRNAs. […] We hope that, with further work to validate these biomarkers, a blood test could be developed to help improve diagnosis of motor neuron disease. […] Professor Hafezparast hopes that his teams discovery will improve the outlook for patients by improving diagnosis and giving other researchers a valuable tool to test potential treatments.

• #72 Mimics and chameleons in motor neurone disease | Practical Neurology

  https://pn.bmj.com/content/13/3/153

  The diagnosis of MND is a clinical diagnosis and there are no mandatory investigations. […] An earlier diagnosis allows patients to maximise the quality of their remaining life and improves care-planning. […] A progressive motor syndrome with mixed upper and lower motor neurone signs in more than one body region has few, if any, differential diagnoses. […] Lower motor neurone-predominant monomelic clinical sub-types of MND present the greatest diagnostic challenge but are frequently more slowly progressive. […] Bulbar-onset MND is not uniformly associated with a rapid progression, and symptoms may remain isolated to this territory with apparently normal EMG studies. […] MND overlaps pathologically with frontotemporal dementia and around 10% of MND patients develop pronounced cognitive impairment (typically as an early feature).

• #73 Revolutionary new tool detects signs of motor neurone disease before symptoms begin | News | The University of Aberdeen

  https://www.abdn.ac.uk/news/22988/

  With better ability to detect disease we might be able to diagnose people with MND earlier, when therapeutic drugs might be much more effective. […] This deeper understanding of the changes that happen in brain tissue at such an early stage has enormous potential for future research into the disease. […] Early detection of these accumulating proteins in people with MND remains a major challenge to successful treatments. […] The improved accuracy of this new detection tool revealed that these proteins can start to make small clumps in the brains of people with MND before those brain regions show symptoms. […] This innovative research into the early cellular changes occurring in MND offers exciting potential for the development of new tests to help reduce diagnostic delay. […] Early detection of MND in people is essential as we move towards a time when treatments that modify progression of the disease could become available.

• #74 Revolutionary new tool detects signs of motor neurone disease before symptoms begin | News | The University of Aberdeen

  https://www.abdn.ac.uk/news/22988/

  With better ability to detect disease we might be able to diagnose people with MND earlier, when therapeutic drugs might be much more effective. […] This deeper understanding of the changes that happen in brain tissue at such an early stage has enormous potential for future research into the disease. […] Early detection of these accumulating proteins in people with MND remains a major challenge to successful treatments. […] The improved accuracy of this new detection tool revealed that these proteins can start to make small clumps in the brains of people with MND before those brain regions show symptoms. […] This innovative research into the early cellular changes occurring in MND offers exciting potential for the development of new tests to help reduce diagnostic delay. […] Early detection of MND in people is essential as we move towards a time when treatments that modify progression of the disease could become available.

• #75 Revolutionary new tool detects signs of motor neurone disease before symptoms begin | News | The University of Aberdeen

  https://www.abdn.ac.uk/news/22988/

  Step changes in technical approaches such as moving away from antibodies towards smaller synthetic RNA molecules, as with this aptamer can accelerate progress by unlocking new lines of research, leading to new insights. […] Whilst this current development is not an early diagnostic test, it could help researchers reach that goal. […] However, we now need robust biomarkers of disease to support the evaluation of these treatments and to speed up diagnosis, so that treatments can be started earlier in disease progression.

• #76 Revolutionary new tool detects signs of motor neurone disease before symptoms begin | News | The University of Aberdeen

  https://www.abdn.ac.uk/news/22988/

  Step changes in technical approaches such as moving away from antibodies towards smaller synthetic RNA molecules, as with this aptamer can accelerate progress by unlocking new lines of research, leading to new insights. […] Whilst this current development is not an early diagnostic test, it could help researchers reach that goal. […] However, we now need robust biomarkers of disease to support the evaluation of these treatments and to speed up diagnosis, so that treatments can be started earlier in disease progression.

• #77 Diagnosis and management of motor neurone disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2270983/

  Non-invasive ventilation has been shown to prolong life and improve quality of life. […] Motor neurone disease remains a devastating illness, and although no breakthrough has been made in terms of a cure, we can offer patients various interventions to enable longer survival with maintenance of independence and a good quality of life.

• #78 Diagnosis and management of motor neurone disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2270983/

  Motor neurone disease is a devastating illness which leads to progressive paralysis and eventual death. […] Motor neurone disease is rare but patients often are aware of it, so this review should help non-specialists reassure patients in whom it is unlikely to be the diagnosis. […] A diagnosis of motor neurone disease relies on interpretation of the clinical symptoms and signs and use of investigations to exclude other causes. […] The lack of a definitive test can cause problems, particularly if patients are seen very early after onset of symptoms, when the signs may be limited. […] Several conditions can mimic motor neurone disease and may be treatable, and it is important to consider these. […] Riluzole is the only drug identified to have a beneficial effect on survival, following a double blind, randomised placebo controlled trial in patients with the common amyotrophic lateral sclerosis variant of motor neurone disease.

• #79 Motor Neurone Disease Breakthroughs | Open Medscience

  https://openmedscience.com/motor-neurone-disease-diagnosis-and-future-research-insights/

  PET imaging, often combined with computed tomography (CT), is increasingly being used in MND research and diagnosis. […] TMS is a non-invasive technique for assessing the functional integrity of the motor cortex and corticospinal tract. […] Muscle ultrasound is a useful tool for assessing muscle atrophy and fasciculations in MND. […] Currently, there is no cure for MND, and treatment focuses on managing symptoms, improving quality of life, and slowing disease progression. […] Riluzole is the only drug approved by regulatory agencies such as the FDA and EMA for the treatment of ALS. […] Edaravone is another drug that has been approved for the treatment of ALS in several countries. […] ASOs are a promising class of drugs that target specific genetic mutations associated with MND.

• #80 Multidisciplinary management of motor neurone disease

  https://www1.racgp.org.au/ajgp/2018/september/multidisciplinary-management-of-motor-neurone-dise

  Given its progressive and debilitating nature and the lack of cure, management of MND is focused on symptomatic relief, optimising quality of life and timely palliative care involvement. Early referral to a dedicated MND multidisciplinary clinic is important to address the multiple facets and highly specific and complex individual care needs of this group. […] Riluzole, an anti-glutamatergic agent, is a disease-modifying, neuroprotective therapy that prolongs survival in ALS by approximately three months. […] Multidisciplinary clinics, when compared with traditional models of standardised outpatient care, improve survival in ALS patients. […] Health-related instruments that measure quality of life, such as the Revised ALS Functional Rating Scale, are simple yet valuable tools used in these multidisciplinary clinics to assess function and predict survival in ALS patients.

• #81 Motor neurone disease (MND) | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/motor-neurone-disease

  Motor neurone disease (MND) is still incurable, but not untreatable many symptoms can be managed. […] MND is still incurable, but it is not untreatable, as many symptoms can be managed. The drug riluzole available on the Pharmaceutical Benefits Scheme has been demonstrated in clinical trials to prolong survival by several months and may help people to remain in the milder phase of the disease for longer. […] Research has shown that people live better and longer under the care of a multidisciplinary team. Interventions such as assistance with nutritional intake and breathing improve quality of life.

• #82 Motor Neurone Disease Breakthroughs | Open Medscience

  https://openmedscience.com/motor-neurone-disease-diagnosis-and-future-research-insights/

  PET imaging, often combined with computed tomography (CT), is increasingly being used in MND research and diagnosis. […] TMS is a non-invasive technique for assessing the functional integrity of the motor cortex and corticospinal tract. […] Muscle ultrasound is a useful tool for assessing muscle atrophy and fasciculations in MND. […] Currently, there is no cure for MND, and treatment focuses on managing symptoms, improving quality of life, and slowing disease progression. […] Riluzole is the only drug approved by regulatory agencies such as the FDA and EMA for the treatment of ALS. […] Edaravone is another drug that has been approved for the treatment of ALS in several countries. […] ASOs are a promising class of drugs that target specific genetic mutations associated with MND.

• #83 Diagnosis and management of motor neurone disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2270983/

  Non-invasive ventilation has been shown to prolong life and improve quality of life. […] Motor neurone disease remains a devastating illness, and although no breakthrough has been made in terms of a cure, we can offer patients various interventions to enable longer survival with maintenance of independence and a good quality of life.

• #84 Motor neurone disease (MND) | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/motor-neurone-disease

  Motor neurone disease (MND) is still incurable, but not untreatable many symptoms can be managed. […] MND is still incurable, but it is not untreatable, as many symptoms can be managed. The drug riluzole available on the Pharmaceutical Benefits Scheme has been demonstrated in clinical trials to prolong survival by several months and may help people to remain in the milder phase of the disease for longer. […] Research has shown that people live better and longer under the care of a multidisciplinary team. Interventions such as assistance with nutritional intake and breathing improve quality of life.

• #85 Motor neurone disease (MND) | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/motor-neurone-disease

  Motor neurone disease (MND) is still incurable, but not untreatable many symptoms can be managed. […] MND is still incurable, but it is not untreatable, as many symptoms can be managed. The drug riluzole available on the Pharmaceutical Benefits Scheme has been demonstrated in clinical trials to prolong survival by several months and may help people to remain in the milder phase of the disease for longer. […] Research has shown that people live better and longer under the care of a multidisciplinary team. Interventions such as assistance with nutritional intake and breathing improve quality of life.

• #86 Multidisciplinary management of motor neurone disease

  https://www1.racgp.org.au/ajgp/2018/september/multidisciplinary-management-of-motor-neurone-dise

  MND polyclinics involve a coordinated team, either physically present or via referral, that includes senior nursing staff, rehabilitation physicians, palliative care physicians, neurologists, gastroenterologists, respiratory physicians, speech pathologists, physiotherapists, occupational therapists, social workers, psychiatrists, psychologists and dietitians. […] The role of palliative care is to offer a holistic approach to the care of the patient by providing adequate symptom relief, respite and planning for end-of-life care and to address psychosocial needs. […] MND is an umbrella term for a group of neurodegenerative disorders characterised by an inexorable decline to death. GPs may reasonably expect to encounter at least one patient with MND during their careers, and it is useful for GPs to have a framework to understand the multidisciplinary management of this complex group of diseases.

• #87 End of life care for someone with motor neurone disease | Marie Curie

  https://www.mariecurie.org.uk/professionals/palliative-care-knowledge-zone/motor-neurone-disease

  Motor neurone disease (MND) can progress rapidly and has no cure. […] People living with MND might be referred to palliative care services at the beginning of their diagnosis to support their condition. […] Some people are appropriate for medication that can slow down the progression of the disease. […] Early referral to specialist palliative care should be available as soon as the person feels it is appropriate and is able to accept the referral. […] Palliative care might help if they have complex symptoms, need home adaptations or equipment, experience a change in physical or cognitive ability, or are going through emotional or spiritual distress. […] A person with MND will usually die between two to three years after diagnosis, but this can vary from person to person. […] The guide includes practical information about care needs towards the end of life.

• #88 End of life care for someone with motor neurone disease | Marie Curie

  https://www.mariecurie.org.uk/professionals/palliative-care-knowledge-zone/motor-neurone-disease

  Motor neurone disease (MND) can progress rapidly and has no cure. […] People living with MND might be referred to palliative care services at the beginning of their diagnosis to support their condition. […] Some people are appropriate for medication that can slow down the progression of the disease. […] Early referral to specialist palliative care should be available as soon as the person feels it is appropriate and is able to accept the referral. […] Palliative care might help if they have complex symptoms, need home adaptations or equipment, experience a change in physical or cognitive ability, or are going through emotional or spiritual distress. […] A person with MND will usually die between two to three years after diagnosis, but this can vary from person to person. […] The guide includes practical information about care needs towards the end of life.

• #89 Motor Neurone Disease (MND) – Path to diagnosis of MND

  https://hexi.ox.ac.uk/motor-neurone-disease-mnd/path-to-diagnosis-of-mnd

  Diagnosing motor neurone disease is often a difficult and lengthy process. This is for several reasons. Firstly, MND is comparatively rare. Secondly, it affects each person in a different way; there is no definitive symptom which would immediately suggest the diagnosis. In addition, the early symptoms can be quite mild and could be caused by various other conditions. These need to be ruled out before a diagnosis of MND is given, and no simple test exists to diagnose MND. Several people talked about their tests as a 'process of elimination’. Progression of symptoms over time provides evidence to support the diagnosis. Many of the people we talked to had been experiencing symptoms for months or even years before finally getting a diagnosis. Some lived with their symptoms for a long time before deciding to go to their GP, perhaps putting them down to stress, old age, or injury.

• #90 ALS – Wikipedia

  https://en.wikipedia.org/wiki/ALS

  Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND), is a rare, terminal neurodegenerative disorder that results in the progressive loss of both upper and lower motor neurons that normally control voluntary muscle contraction. The diagnosis is based on a person’s signs and symptoms, with testing conducted to rule out other potential causes. No single test can provide a definite diagnosis of ALS. Instead, the diagnosis of ALS is primarily made based on a physician’s clinical assessment after ruling out other diseases. Physicians often obtain the person’s full medical history and conduct neurologic examinations at regular intervals to assess whether signs and symptoms such as muscle weakness, muscle atrophy, hyperreflexia, Babinski’s sign, and spasticity are worsening. Many biomarkers are being studied for the condition, but as of 2023 are not in general medical use.

• #91 Motor Neurone Disease Information & Support | MND Australia | MND Australia

  https://www.mndaustralia.org.au/mnd-connect/for-health-professionals-service-providers/diagnosing-mnd

  The diagnosis of motor neurone disease (MND) is often clinically difficult, and sometimes it is necessary to review a person and observe symptom progression for some time before the diagnosis becomes reasonably certain. […] Rapid and accurate diagnosis is crucial in ensuring the needs of people living with MND are met from the earliest possible stage. […] If MND is suspected is it important to refer the person to a neurologist expert in diagnosing motor neurone disease. A referral to a neurologist at one of the specialist MND Clinics is also advisable to confirm a diagnosis of MND. […] Patients with symptoms suggestive of ALS should be assessed as soon as possible by an experienced neurologist. Early diagnosis should be pursued, and investigations, including neurophysiology, performed with high priority.

• #92 Mimics and chameleons in motor neurone disease | Practical Neurology

  https://pn.bmj.com/content/13/3/153

  The diagnosis of MND is a clinical diagnosis and there are no mandatory investigations. […] An earlier diagnosis allows patients to maximise the quality of their remaining life and improves care-planning. […] A progressive motor syndrome with mixed upper and lower motor neurone signs in more than one body region has few, if any, differential diagnoses. […] Lower motor neurone-predominant monomelic clinical sub-types of MND present the greatest diagnostic challenge but are frequently more slowly progressive. […] Bulbar-onset MND is not uniformly associated with a rapid progression, and symptoms may remain isolated to this territory with apparently normal EMG studies. […] MND overlaps pathologically with frontotemporal dementia and around 10% of MND patients develop pronounced cognitive impairment (typically as an early feature).

• #93 Multidisciplinary management of motor neurone disease

  https://www1.racgp.org.au/ajgp/2018/september/multidisciplinary-management-of-motor-neurone-dise

  Given its progressive and debilitating nature and the lack of cure, management of MND is focused on symptomatic relief, optimising quality of life and timely palliative care involvement. Early referral to a dedicated MND multidisciplinary clinic is important to address the multiple facets and highly specific and complex individual care needs of this group. […] Riluzole, an anti-glutamatergic agent, is a disease-modifying, neuroprotective therapy that prolongs survival in ALS by approximately three months. […] Multidisciplinary clinics, when compared with traditional models of standardised outpatient care, improve survival in ALS patients. […] Health-related instruments that measure quality of life, such as the Revised ALS Functional Rating Scale, are simple yet valuable tools used in these multidisciplinary clinics to assess function and predict survival in ALS patients.

• #94 Revolutionary new tool detects signs of motor neurone disease before symptoms begin | News | The University of Aberdeen

  https://www.abdn.ac.uk/news/22988/

  Step changes in technical approaches such as moving away from antibodies towards smaller synthetic RNA molecules, as with this aptamer can accelerate progress by unlocking new lines of research, leading to new insights. […] Whilst this current development is not an early diagnostic test, it could help researchers reach that goal. […] However, we now need robust biomarkers of disease to support the evaluation of these treatments and to speed up diagnosis, so that treatments can be started earlier in disease progression.

• #95 Motor Neurone Disease Breakthroughs | Open Medscience

  https://openmedscience.com/motor-neurone-disease-diagnosis-and-future-research-insights/

  Understanding the mechanisms of action of current treatments is crucial for developing more effective therapies. […] The future of MND research is focused on uncovering the underlying mechanisms of the disease and developing novel therapeutic approaches. […] One of the significant challenges in MND research is the lack of reliable biomarkers for early diagnosis and disease monitoring. […] The future of MND research holds promise, with emerging therapies such as gene editing, stem cell transplantation, and immunotherapy offering hope for more effective treatments. […] Ultimately, continued research and collaboration across disciplines will be essential to unlock new insights into MND and improve the lives of those affected by this relentless disease.

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