Materiały źródłowe

• #1 Multiple system atrophy | Practical Neurology

  https://pn.bmj.com/content/23/3/208

  This is a practical guide to diagnosing and managing multiple system atrophy (MSA). We explain the newly published Movement Disorders Society Consensus Diagnostic Criteria, which include new ‘Clinically Established MSA’ and ‘Possible Prodromal MSA’ categories, hopefully reducing time to diagnosis. We then highlight the key clinical features of MSA to aid diagnosis. We include a list of MSA mimics with suggested methods of differentiation from MSA. Lastly, we discuss practical symptom management in people living with MSA, including balancing side effects, with the ultimate aim of improving quality of life. […] Multiple system atrophy (MSA) is a sporadic, progressive, adult-onset (>30 years), degenerative disease that presents with a combination of parkinsonism, cerebellar and autonomic dysfunction. Its diagnosis is challenging and postmortem studies show accuracy rates of only 62%–79%. Delayed diagnosis is common, with an average of 3.8 years from symptom onset to diagnosis. As average survival is only 7–9 years, early diagnosis is crucial for patient quality of life and effective management.

• #2 Multiple system atrophy | Practical Neurology

  https://pn.bmj.com/content/23/3/208

  This is a practical guide to diagnosing and managing multiple system atrophy (MSA). We explain the newly published Movement Disorders Society Consensus Diagnostic Criteria, which include new ‘Clinically Established MSA’ and ‘Possible Prodromal MSA’ categories, hopefully reducing time to diagnosis. We then highlight the key clinical features of MSA to aid diagnosis. We include a list of MSA mimics with suggested methods of differentiation from MSA. Lastly, we discuss practical symptom management in people living with MSA, including balancing side effects, with the ultimate aim of improving quality of life. […] Multiple system atrophy (MSA) is a sporadic, progressive, adult-onset (>30 years), degenerative disease that presents with a combination of parkinsonism, cerebellar and autonomic dysfunction. Its diagnosis is challenging and postmortem studies show accuracy rates of only 62%–79%. Delayed diagnosis is common, with an average of 3.8 years from symptom onset to diagnosis. As average survival is only 7–9 years, early diagnosis is crucial for patient quality of life and effective management.

• #3 Multiple System Atrophy | National Institute of Neurological Disorders and Stroke

  https://www.ninds.nih.gov/health-information/disorders/multiple-system-atrophy

  Diagnosing MSA can be difficult, particularly in the early stages because many of the features are similar to those observed in Parkinson’s disease. […] In addition to taking a persons medical and family history and performing a neurological examination, a doctor may order tests to support the diagnosis. These tests might include: […] Brain scans (Neuroimaging): Magnetic resonance imaging (MRI) may identify changes that suggest MSA or rule out other causes of the symptoms. […] People with MSA typically do not see their systems improve long-term when taking medicines commonly prescribed for treating Parkinsons disease. If Parkinsons drugs are not effective for the treating the disease, that finding can help support the diagnosis of MSA. […] NINDS-funded scientists are using special brain imaging tools to develop biomarkers (signs that may indicate risk of a disease and improve diagnosis) that can distinguish MSA from other movement disorders and track disease-specific neurodegeneration over time. […] NINDS-supported scientists also are studying whether identifying specific types of abnormal protein alpha-synuclein can help differentially diagnose MSA and other neurodegenerative diseases.

• #4 Top Review Article, Movement Disorders

  https://www.movementdisorders.org/MDS/Moving-Along/MDS-Criteria-Diagnosis-MSA.htm

  Since its publication in 2008 the second consensus criteria was the gold standard for the diagnosis of multiple system atrophy (MSA). But the criteria has poor sensitivity in early disease stages and suboptimal accuracy. These shortcomings prevent proper counseling, enrollement in clinical trials of potential disease-modifying drugs, and the validation of diagnostic markers. […] Attemptying to improve on the second consensus criteria, the MDS MSA Study Group (MoDiMSA-SG) took a close look to identify specific shortcomings. Then, a Task Force within MDS conducted the development process that resulted in a novel MDS MSA criteria. Systematic literature review of clinical and laboratory features relevant for MSA diagnosis and consensus process including two Delphi rounds, an open survey for all MDS membership and Virtual Consensus Conference were used to develop and optimize the new MDS MSA criteria.

• #5 Multiple System Atrophy: Advances in Diagnosis and Therapy

  https://www.e-jmd.org/journal/view.php?doi=10.14802/jmd.22082

  This review summarizes improvements in understanding the pathophysiology and early clinical symptoms of multiple system atrophy (MSA) and advancements in diagnostic methods and disease-modifying therapies for the condition. […] In 2022, the Movement Disorder Society proposed new diagnostic criteria to develop disease-modifying therapies and promote clinical trials of MSA since the second consensus was proposed in 2008. […] The second consensus criteria, which are widely used to diagnose MSA, were not sufficiently sensitive for the early stages; therefore, since many patients with MSA have been excluded from clinical trials for disease-modifying therapy, the MDS developed the current criteria for MSA diagnosis to improve accuracy early in the course of the disease. […] According to the MDS criteria, MSA is classified into four levels of certainty: neuropathologically established MSA, clinically established MSA, clinically probable MSA, and possible prodromal MSA.

• #6 Top Review Article, Movement Disorders

  https://www.movementdisorders.org/MDS/Moving-Along/MDS-Criteria-Diagnosis-MSA.htm

  The MDS MSA criteria are designed for clinical practice, for the inclusion of patients in clinical trials, and for research purposes. It has four levels of diagnostic accuracy: neuropathologically established MSA, clinically established MSA, clinically probable MSA and possible prodromal MSA. Clinically established MSA provides maximum specificity with acceptable sensitivity, clinically probable MSA allows balanced sensitivity and specificity, while a new research category of possible prodromal MSA has low specificity. […] Clinically established and clinically probable MSA require a combination of core clinical features (autonomic failure, parkinsonism and cerebellar syndrome), supportive motor and non-motor features (previously termed red flags), brain MRI findings and an absence of exclusion criteria.

• #7 Top Review Article, Movement Disorders

  https://www.movementdisorders.org/MDS/Moving-Along/MDS-Criteria-Diagnosis-MSA.htm

  Possible prodromal MSA is a research category designed to capture patients at their early disease stage. Patients in this category are those with isolated autonomic failure and REM sleep behavior disorder, subtle motor signs and an absence of exclusion criteria. […] Most supportive biomarkers were not included in the new criteria due to their still limited availability and a need for validation. However, we encourage clinicians to investigate their presence in patients with all MSA categories whenever available so that more data will be available in the future. […] The MoDiMSA-SG is conducting a prospective multicenter validation study on the new MDS MSA criteria. Validation is particularly needed for the research category of possible prodromal MSA and for the supportive biomarkers. Emerging data from ongoing and future studies will help refine the MDS MSA criteria. A systematic Horizon Scanning methodology for picking up diagnostic innovations will be considered for regular criteria updates.

• #8 Multiple system atrophy – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/multiple-system-atrophy/diagnosis-treatment/drc-20356157

  Diagnosing multiple system atrophy (MSA) can be challenging. Symptoms such as stiffness and trouble walking can happen in other diseases, including Parkinson’s disease. This can make MSA hard to diagnose. […] Your healthcare professional gives you a physical exam, reviews your medical history and tests your autonomic functions such as blood pressure. You also may need blood tests and imaging tests, such as an MRI. These tests can help diagnose MSA or point to another causes of your symptoms. […] If your healthcare professional thinks you have multiple system atrophy, test results help determine whether the diagnosis is clinically established MSA or clinically probable MSA. Because it’s hard to make a diagnosis, some people are never properly diagnosed. […] You may be referred to a neurologist or another specialist for further evaluation. A specialist can help diagnose the disease.

• #9 Multiple System Atrophy (MSA): Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/17250-multiple-system-atrophy

  Theres only one way to definitively confirm MSA: Analyzing brain tissue after a person dies. Thats because its impossible to identify a buildup of -synuclein in areas of the brain while a person is alive. […] While a person is alive, healthcare providers may suspect MSA based on that persons symptoms, medical history, family history and whether or not they respond to certain treatments. Its common for healthcare providers to initially diagnose a person as having Parkinsons disease or another form of parkinsonism, and then to revise the diagnosis when other symptoms appear or when certain treatments dont work. […] Some key features that separate MSA from Parkinsons disease include: MSA progresses faster. People with Parkinsons disease usually take years to develop autonomic dysfunction. With MSA, autonomic dysfunction can start within a year.

• #10 Multiple system atrophy – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/multiple-system-atrophy/diagnosis-treatment/drc-20356157

  For multiple system atrophy, some basic questions include: What is likely causing my symptoms? Are there any other possible causes for these symptoms, such as Parkinson’s disease? How will you make a firm diagnosis? What tests do I need? What treatment options are available for multiple system atrophy? What are the possible side effects of those treatment options? How is my condition likely to change over time? Will treatment slow the illness or simply relieve symptoms? Can self-care steps help ease my symptoms? How is my health monitored over time? Do I need to adjust the medicines I’m taking for other health conditions? […] While you wait for your appointment, find out if any blood relatives have been diagnosed with a nervous system condition such as Parkinson’s disease or cerebellar ataxia. Blood relatives include a parent, sibling or grandparent. Multiple system atrophy (MSA) is not known to be passed down through families. A family history of a condition with similar symptoms may help rule out MSA.

• #11 Multiple system atrophy – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/multiple-system-atrophy/diagnosis-treatment/drc-20356157

  For multiple system atrophy, some basic questions include: What is likely causing my symptoms? Are there any other possible causes for these symptoms, such as Parkinson’s disease? How will you make a firm diagnosis? What tests do I need? What treatment options are available for multiple system atrophy? What are the possible side effects of those treatment options? How is my condition likely to change over time? Will treatment slow the illness or simply relieve symptoms? Can self-care steps help ease my symptoms? How is my health monitored over time? Do I need to adjust the medicines I’m taking for other health conditions? […] While you wait for your appointment, find out if any blood relatives have been diagnosed with a nervous system condition such as Parkinson’s disease or cerebellar ataxia. Blood relatives include a parent, sibling or grandparent. Multiple system atrophy (MSA) is not known to be passed down through families. A family history of a condition with similar symptoms may help rule out MSA.

• #12 Multiple system atrophy – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/multiple-system-atrophy/diagnosis-treatment/drc-20356157

  This test evaluates your blood pressure control. In this procedure, you’re placed on a motorized table. Straps hold you in place. Then the table is tilted upward so that your body is positioned at a 70-degree angle. […] During the test, your healthcare professional watches for changes in your blood pressure and heart rate. The test can show if your blood pressure doesn’t respond in a typical way when changing position. […] Other tests can look at blood pressure control and other involuntary functions, including: Blood pressure measurement, lying down and standing, without the use of a tilt table. A sweat test to evaluate areas of the body that sweat. Tests that look at bladder and bowel function. Electrocardiogram to track the electrical signals of your heart. […] You might need a sleep study if you stop breathing during sleep or if you snore or have other sleep symptoms. The test can help diagnose a sleep condition that can be treated, such as sleep apnea.

• #13 Multiple System Atrophy/Shy-Drager Syndrome | Vanderbilt Autonomic Dysfunction Center

  https://www.vumc.org/autonomic-dysfunction-center/multiple-system-atrophyshy-drager-syndrome

  Diagnosis of MSA can be challenging because there is no test that can make or confirm the diagnosis in a living patient. Certain signs and symptoms of MSA also occur with other disorders, such as Parkinson’s disease, making the diagnosis more difficult. […] If your doctor suspects multiple system atrophy, he or she will obtain a medical history and perform a physical examination. You may receive a referral to a neurologist or other specialist for specific evaluations that can help in making the diagnosis. […] Tests that may be helpful in making a diagnosis include: Tilt table test – In this procedure, your blood pressure is monitored while you are on a special table that will tilt you to an almost upright position. This allows the physician to record blood pressure irregularities, and information about whether they occur with a change in physical position. […] True diagnosis can only be accomplished by examination of the brain post-mortem.

• #14 Diagnosis of Multiple System Atrophy (MSA)

  https://reference.medscape.com/calculator/563/diagnosis-of-multiple-system-atrophy-msa

  Diagnose Multiple Systems Atrophy based on the 2008 criteria. […] To be diagnosed with MSA, a patient must have sporadic (i.e., not inherited), progressive disease with onset after age 30. […] For a diagnosis of probable MSA a patient must have autonomic dysfunction, including otherwise unexplained urinary urgency, frequency, or incomplete emptying, erectile dysfunction in males, or orthostatic blood pressure drop by at least 30 mmHg systolic or 15 mmHg diastolic within 3 min of standing. […] As well, for a diagnosis of probable MSA-P, the patient must have a poorly levodopa-responsive parkinsonism (bradykinesia with rigidity, tremor, or postural instability), and for a diagnosis of probably MSA-C, the patient must have a cerebellar syndrome (gait ataxia with cerebellar dysarthria, limb ataxia, or cerebellar oculomotor dysfunction). […] In the case that a patient has orthostatic hypotension not meeting the strict numerical criteria, if one of the additional suggestive features are present, a diagnosis of possible MSA can be made.

• #15 Multiple System Atrophy-D Maybe Something Altogether–Different

  https://practicalneurology.com/articles/2018-mar-apr/multiple-system-atrophy-d-maybe-something-altogetherdifferent

  For establishing orthostatic hypotension to diagnose probable MSA, the 2008 consensus criteria give a definition of a drop in systolic blood pressure by 30 mm Hg or more, or a drop in diastolic blood pressure by 15 mm Hg or more after 3 minutes. Diagnosis of possible MSA does not require such strict parameters for orthostatic hypotension.

• #16 Multiple system atrophy – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/multiple-system-atrophy/diagnosis-treatment/drc-20356157

  This test evaluates your blood pressure control. In this procedure, you’re placed on a motorized table. Straps hold you in place. Then the table is tilted upward so that your body is positioned at a 70-degree angle. […] During the test, your healthcare professional watches for changes in your blood pressure and heart rate. The test can show if your blood pressure doesn’t respond in a typical way when changing position. […] Other tests can look at blood pressure control and other involuntary functions, including: Blood pressure measurement, lying down and standing, without the use of a tilt table. A sweat test to evaluate areas of the body that sweat. Tests that look at bladder and bowel function. Electrocardiogram to track the electrical signals of your heart. […] You might need a sleep study if you stop breathing during sleep or if you snore or have other sleep symptoms. The test can help diagnose a sleep condition that can be treated, such as sleep apnea.

• #17 Multiple system atrophy (MSA) // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/multiple-system-atrophy-msa

  You may receive a referral to a neurologist or other specialist for specific evaluations that can help in making the diagnosis. […] This test can help determine if you have a problem with blood pressure control. In this procedure, you’re placed on a motorized table and strapped in place. Then the table is tilted upward so that your body is positioned at a 70-degree angle. […] During the test, your blood pressure and heart rate are monitored. The findings can document both the extent of blood pressure irregularities and whether they occur with a change in physical position. […] Doctors may order other tests to assess your body’s involuntary functions, including: Blood pressure measurement, lying down and standing; A sweat test to evaluate areas of the body that sweat; Tests to assess your bladder and bowel function; Electrocardiogram to track the electrical signals of your heart. […] If you have sleep irregularities, especially interrupted breathing or snoring, your doctor may recommend an evaluation in a sleep laboratory. This can help diagnose an underlying and treatable sleep disorder, such as sleep apnea.

• #18 Multiple System Atrophy | National Institute of Neurological Disorders and Stroke

  https://www.ninds.nih.gov/health-information/disorders/multiple-system-atrophy

  Diagnosing MSA can be difficult, particularly in the early stages because many of the features are similar to those observed in Parkinson’s disease. […] In addition to taking a persons medical and family history and performing a neurological examination, a doctor may order tests to support the diagnosis. These tests might include: […] Brain scans (Neuroimaging): Magnetic resonance imaging (MRI) may identify changes that suggest MSA or rule out other causes of the symptoms. […] People with MSA typically do not see their systems improve long-term when taking medicines commonly prescribed for treating Parkinsons disease. If Parkinsons drugs are not effective for the treating the disease, that finding can help support the diagnosis of MSA. […] NINDS-funded scientists are using special brain imaging tools to develop biomarkers (signs that may indicate risk of a disease and improve diagnosis) that can distinguish MSA from other movement disorders and track disease-specific neurodegeneration over time. […] NINDS-supported scientists also are studying whether identifying specific types of abnormal protein alpha-synuclein can help differentially diagnose MSA and other neurodegenerative diseases.

• #19 Multiple System Atrophy | Baylor Medicine

  https://www.bcm.edu/healthcare/specialties/neurology/parkinsons-disease-and-movement-disorders/multiple-system-atrophy

  Currently, MSA is divided into two categories: MSA-P (with predominant parkinsonism) and MSA-C (with predominant cerebellar ataxia). […] There is no diagnostic test for MSA, but a neurologist usually suspects the diagnosis based on a patient’s rapidly progressive clinical course and neurologic examination. […] A probable diagnosis of MSA is made when patients exhibit autonomic failure with either parkinsonism or cerebellar ataxia. […] A definite diagnosis can only be made upon autopsy where characteristic patterns of degeneration may be seen but the diagnosis of MSA cannot be confirmed unless typical alpha-synuclein protein collections known as glial intracytoplasmic inclusions are present. […] In MSA-P, brain MRI scans may demonstrate abnormal signal in the putamen (a cluster of cells deep in the brain involved in regulating movement).

• #20 Multiple System Atrophy | Baylor Medicine

  https://www.bcm.edu/healthcare/specialties/neurology/parkinsons-disease-and-movement-disorders/multiple-system-atrophy

  In cases of MSA-C, brain MRI shows atrophy (or shrinkage) of the cerebellum and brainstem. […] Diagnosis of MSA may also be aided by testing the autonomic nervous system. One method of testing this is by measuring blood pressure and heart rate with the patient lying down compared with standing up. A decrease in blood pressure while standing (orthostatic hypotension) is suggestive of autonomic dysfunction.

• #21 Multiple system atrophy | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/multiple-system-atrophy?lang=us

  Multiple system atrophy (MSA) is a sporadic neurodegenerative disease and synucleinopathy characterized by varying degrees of cerebellar ataxia, autonomic dysfunction, parkinsonism, and corticospinal dysfunction. […] The updated 2022 Movement Disorder Society criteria for MSA diagnosis has four diagnostic categories: neuropathologically established MSA, clinically established MSA, clinically probable MSA, and possible prodromal MSA (research criteria). […] The absence of MRI findings does not exclude a diagnosis of MSA, due to low sensitivity (especially in early disease), however MRI has high specificity for differentiating MSA from Parkinson disease and progressive supranuclear palsy, which are important clinical mimics. […] Unfortunately, no effective disease-modifying treatment is available and management remains supportive (e.g. antiparkinsonian medications for parkinsonism, gait aids for gait ataxia, etc.).

• #22 Multiple System Atrophy Symptoms & Treatment | Pacific Movement Disorders

  https://www.pacificneuroscienceinstitute.org/movement-disorders/conditions/atypical-parkinsonism/multiple-system-atrophy/

  The diagnosis of MSA is often made based on typical findings on MRI, particularly cerebellar atrophy (shrinking in the size of the cerebellum), the hot-cross bun sign in the pons (part of the brainstem) or other areas of increased signal in the MRI such as a linear rim adjacent to the putamen. These can be quite subtle at times so our specialists will perform an independent review of all MRIs done on patients with PD or suspected MSA.

• #23 Multiple system atrophy | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/multiple-system-atrophy?lang=us

  Multiple system atrophy (MSA) is a sporadic neurodegenerative disease and synucleinopathy characterized by varying degrees of cerebellar ataxia, autonomic dysfunction, parkinsonism, and corticospinal dysfunction. […] The updated 2022 Movement Disorder Society criteria for MSA diagnosis has four diagnostic categories: neuropathologically established MSA, clinically established MSA, clinically probable MSA, and possible prodromal MSA (research criteria). […] The absence of MRI findings does not exclude a diagnosis of MSA, due to low sensitivity (especially in early disease), however MRI has high specificity for differentiating MSA from Parkinson disease and progressive supranuclear palsy, which are important clinical mimics. […] Unfortunately, no effective disease-modifying treatment is available and management remains supportive (e.g. antiparkinsonian medications for parkinsonism, gait aids for gait ataxia, etc.).

• #24 Multiple System Atrophy: Causes and Treatment | Doctor

  https://patient.info/doctor/multiple-system-atrophy

  However, these findings tend to occur in later disease and MRI scans in the early stages are indistinguishable from those in Parkinson’s disease. […] Use of imaging with fluorodeoxyglucose 18F-FDG-PET has shown some promise in distinguishing early MSA. Use of DAT-SPECT, and 123I-MIBG-SPECT in imaging may prove useful in the future but are still theoretical at this stage. […] Diagnostic techniques include structural and functional brain imaging, cardiac sympathetic imaging, cardiovascular autonomic testing, olfactory testing, sleep study, urological evaluation, and dysphagia and cognitive assessments.

• #25 Multiple System Atrophy: Causes and Treatment | Doctor

  https://patient.info/doctor/multiple-system-atrophy

  However, these findings tend to occur in later disease and MRI scans in the early stages are indistinguishable from those in Parkinson’s disease. […] Use of imaging with fluorodeoxyglucose 18F-FDG-PET has shown some promise in distinguishing early MSA. Use of DAT-SPECT, and 123I-MIBG-SPECT in imaging may prove useful in the future but are still theoretical at this stage. […] Diagnostic techniques include structural and functional brain imaging, cardiac sympathetic imaging, cardiovascular autonomic testing, olfactory testing, sleep study, urological evaluation, and dysphagia and cognitive assessments.

• #26

  https://movementdisorders.ufhealth.org/for-patients/movement-disorder-information/multiple-system-atrophy-primer-many-faces-same-disease/

  Newer imaging techniques such as functional MRI (fMRI) and diffusion tensor imaging (DTI) are actively being explored, including major efforts here at the University of Florida. […] Testing for non-motor symptoms in MSA can also be useful. […] Evaluation of autonomic symptoms can also be done, but may require specialized equipment and expertise. […] If one experiences early satiety, or feeling of fullness or nausea after eating just small portions, a gastric emptying study may be in order. […] Measurement of post-void residual (urine) and urodynamic testing are some of the things that may be done and helpful to determine cause of problems.

• #27 Multiple System Atrophy: Advances in Diagnosis and Therapy

  https://www.e-jmd.org/journal/view.php?doi=10.14802/jmd.22082

  The properties of -synuclein aggregates in CSF treated with protein misfolding cyclic amplification (PMCA) and real-time Quaking-Induced Conversion (RT-QuIC) provided useful findings for the early diagnosis of MSA and differentiation from PD. […] However, the results on RT-QuIC in MSA are not consistent among studies, and some studies report positive RT-QuIC in MSA. […] By combining the results of NFL and PMCA-based -synuclein, differentiating MSA from PD/DLB with high sensitivity and specificity may be possible. […] The combination of automation and machine learning will continue improving diagnostic accuracy and standardizing methods for individual analyses.

• #28 Multiple System Atrophy: Advances in Diagnosis and Therapy

  https://www.e-jmd.org/journal/view.php?doi=10.14802/jmd.22082

  The properties of -synuclein aggregates in CSF treated with protein misfolding cyclic amplification (PMCA) and real-time Quaking-Induced Conversion (RT-QuIC) provided useful findings for the early diagnosis of MSA and differentiation from PD. […] However, the results on RT-QuIC in MSA are not consistent among studies, and some studies report positive RT-QuIC in MSA. […] By combining the results of NFL and PMCA-based -synuclein, differentiating MSA from PD/DLB with high sensitivity and specificity may be possible. […] The combination of automation and machine learning will continue improving diagnostic accuracy and standardizing methods for individual analyses.

• #29 Multiple system atrophy – Wikipedia

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

  Both MRI and CT scanning may show a decrease in the size of the cerebellum and pons in those with cerebellar features (MSA-C). […] MRI changes are not required to diagnose the disease as these features are often absent, especially early in the course of the disease. […] Pathological diagnosis can only be made at autopsy by finding abundant glial cytoplasmic inclusions (GCIs) on histological specimens of the central nervous system. […] In 2020, researchers at The University of Texas Health Science Center at Houston concluded that protein misfolding cyclic amplification could be used to distinguish between two progressive neurodegenerative diseases, Parkinson’s disease and multiple system atrophy, being the first process to give an objective diagnosis of Multiple System Atrophy instead of just a differential diagnosis. […] The current terminology and diagnostic criteria for the disease were established at a 2007 conference of experts and set forth in a position paper.

• #30 Identification of prodromal, shared and discriminatory features in multiple system atrophy (MSA) – Mission MSA

  https://missionmsa.org/identification-of-prodromal-shared-and-discriminatory-features-in-multiple-system-atrophy-msa/

  In the early stages, it can be difficult to distinguish Multiple System Atrophy (MSA) with other parkinsonian disorders such as Parkinsons Disease (PD) with up to a 30% misdiagnosis rate. […] Traditional statistical methods have shown that certain clinical features can be used to differentiate between the conditions, as well as predict disease progression, but with limited accuracy. […] This study seeks to see whether accurate machine learning models can differentiate MSA as well as predict rate of disease progression. […] We will combine the best current fluid biomarker, neurofilament light (NfL) to investigate if this further enhances diagnosis. […] This project opens the potential to advance MSA diagnosis and prediction of progression, allowing patients to enter clinical trials earlier (before they lose function) and that clinical trials can be more specific about patient selection, so as not to confuse natural disease progression with treatment impact. […] If successful, we will be able to develop an online application that everyone will be able to use to help differentiate between MSA and PD and help predict disease progression.

• #31 Pitfalls in the Diagnosis of Multiple System Atrophy

  https://www.movementdisorders.org/MDS/Scientific-Issues-Committee-Blog/Pitfalls-in-the-diagnosis-of-multiple-system-atrophy.htm

  Our understanding of the intrinsic mechanism of MSA has steadily improved. […] Regarding biomarkers, olfactory function test and 123I-meta-iodobenzylguanidine (MIBG) cardiac scintigraphy can be valuable to differentiate Parkinson’s disease (PD) and DLB from MSA in the early stages. […] While blood and CSF based biomarkers are still not satisfactory, there has been significant progress in brain imaging and clinical phenotype. […] Diagnostic criteria for prodromal MSA would be extremely useful. There is no doubt that the neurodegenerative process in all synucleinopathies begins way before abnormal motor findings are recognized clinically. […] Defining possible prodromal MSA as a research category may increase awareness of the disease in urology, cardiology, and ENT clinics. Hopefully, it will stimulate research and clinical recognition of MSA.

• #32 Multiple System Atrophy: Symptoms & Treatment | Massachusetts General Hospital

  https://www.massgeneral.org/neurology/treatments-and-services/multiple-system-atrophy

  Automatic functions tests: These tests evaluate automatic functions controlled by the brainstem, such as blood pressure responses to breathing or changes in position (tilt). […] Blood and urine tests: These tests can look for rare genetic or immune conditions that can mimic MSA or identify biomarkers that might suggest MSA. […] MRI, DaT, or PET: Imaging tests can show irregularities in brain structure or function that might suggest MSA. […] Skin biopsy: A small sample of skin cells can be tested for high levels of alpha-synuclein, a protein that accumulates in MSA. […] Unlike some other diseases (like cancer), multiple system atrophy doesn’t have clearly defined stages. However, MSA tends to progress steadily after diagnosis.

• #33 Multiple system atrophy | Practical Neurology

  https://pn.bmj.com/content/23/3/208

  In April 2022, the Movement Disorders Society published new diagnostic criteria for MSA defining four levels of certainty: neuropathologically (postmortem) established, clinically established, clinically probable and possible prodromal MSA. […] MSA patients can present to almost any branch of neurology, and often have consulted urology, gynaecology or cardiology before coming to neurology. We recommend considering the diagnosis for any adult with: Parkinsonism or ataxia, Autonomic dysfunction, Atypical resting/action tremor with a myoclonic component, Mixed dysphonia with elements of hypophonia, cerebellar dysarthria and spasticity, Abnormal posturing with Pisa syndrome or disproportionate antecollis, Rapid eye movement (REM) sleep behaviour disorder. […] The only tests needed to fulfil core clinical criteria are a postvoid bladder residual volume and a lying and standing blood pressure. However, if uncertainty remains, other investigations can help to prove autonomic involvement, for example formal urodynamics showing detrusor sphincter dyssynergia or external anal sphincter electromyography showing chronic reinnervation changes in Onuf’s nucleus.

• #34 Diagnosis of multiple system atrophy – PubMed

  https://pubmed.ncbi.nlm.nih.gov/29111419/

  Multiple system atrophy (MSA) may be difficult to distinguish clinically from other disorders, particularly in the early stages of the disease. An autonomic-only presentation can be indistinguishable from pure autonomic failure. Patients presenting with parkinsonism may be misdiagnosed as having Parkinson disease. Patients presenting with the cerebellar phenotype of MSA can mimic other adult-onset ataxias due to alcohol, chemotherapeutic agents, lead, lithium, and toluene, or vitamin E deficiency, as well as paraneoplastic, autoimmune, or genetic ataxias. A careful medical history and meticulous neurological examination remain the cornerstone for the accurate diagnosis of MSA. Ancillary investigations are helpful to support the diagnosis, rule out potential mimics, and define therapeutic strategies. This review summarizes diagnostic investigations useful in the differential diagnosis of patients with suspected MSA. Currently used techniques include structural and functional brain imaging, cardiac sympathetic imaging, cardiovascular autonomic testing, olfactory testing, sleep study, urological evaluation, and dysphagia and cognitive assessments. Despite advances in the diagnostic tools for MSA in recent years and the availability of consensus criteria for clinical diagnosis, the diagnostic accuracy of MSA remains sub-optimal. As other diagnostic tools emerge, including skin biopsy, retinal biomarkers, blood and cerebrospinal fluid biomarkers, and advanced genetic testing, a more accurate and earlier recognition of MSA should be possible, even in the prodromal stages. This has important implications as misdiagnosis can result in inappropriate treatment, patient and family distress, and erroneous eligibility for clinical trials of disease-modifying drugs.

• #35 Multiple System Atrophy (MSA): Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/17250-multiple-system-atrophy

  Theres only one way to definitively confirm MSA: Analyzing brain tissue after a person dies. Thats because its impossible to identify a buildup of -synuclein in areas of the brain while a person is alive. […] While a person is alive, healthcare providers may suspect MSA based on that persons symptoms, medical history, family history and whether or not they respond to certain treatments. Its common for healthcare providers to initially diagnose a person as having Parkinsons disease or another form of parkinsonism, and then to revise the diagnosis when other symptoms appear or when certain treatments dont work. […] Some key features that separate MSA from Parkinsons disease include: MSA progresses faster. People with Parkinsons disease usually take years to develop autonomic dysfunction. With MSA, autonomic dysfunction can start within a year.

• #36 Multiple System Atrophy (MSA): Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/17250-multiple-system-atrophy

  Theres only one way to definitively confirm MSA: Analyzing brain tissue after a person dies. Thats because its impossible to identify a buildup of -synuclein in areas of the brain while a person is alive. […] While a person is alive, healthcare providers may suspect MSA based on that persons symptoms, medical history, family history and whether or not they respond to certain treatments. Its common for healthcare providers to initially diagnose a person as having Parkinsons disease or another form of parkinsonism, and then to revise the diagnosis when other symptoms appear or when certain treatments dont work. […] Some key features that separate MSA from Parkinsons disease include: MSA progresses faster. People with Parkinsons disease usually take years to develop autonomic dysfunction. With MSA, autonomic dysfunction can start within a year.

• #37 Multiple System Atrophy (MSA): Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/17250-multiple-system-atrophy

  Some symptoms develop differently. Autonomic symptoms in particular are usually more severe with MSA, while tremors are less severe or may not happen at all. The way the symptoms spread throughout your body can also happen differently. […] Treatments dont work as they should. A drug called levodopa is the main treatment option for Parkinsons disease. In contrast, MSA doesnt respond to levodopa as well. This is often a key way healthcare providers recognize that a person has MSA instead of Parkinsons disease. […] There are very few tests that can help with the diagnosis of MSA directly. Instead, these tests help rule out other conditions or offer evidence supporting diagnosing MSA. […] Your healthcare provider can tell you about other possible tests they recommend and why they think those may help. The information they provide will be the most relevant for your situation, considering your health history, family history and more.

• #38 Multiple System Atrophy (MSA): Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/17250-multiple-system-atrophy

  Some symptoms develop differently. Autonomic symptoms in particular are usually more severe with MSA, while tremors are less severe or may not happen at all. The way the symptoms spread throughout your body can also happen differently. […] Treatments dont work as they should. A drug called levodopa is the main treatment option for Parkinsons disease. In contrast, MSA doesnt respond to levodopa as well. This is often a key way healthcare providers recognize that a person has MSA instead of Parkinsons disease. […] There are very few tests that can help with the diagnosis of MSA directly. Instead, these tests help rule out other conditions or offer evidence supporting diagnosing MSA. […] Your healthcare provider can tell you about other possible tests they recommend and why they think those may help. The information they provide will be the most relevant for your situation, considering your health history, family history and more.

• #39 Multiple System Atrophy | National Institute of Neurological Disorders and Stroke

  https://www.ninds.nih.gov/health-information/disorders/multiple-system-atrophy

  Diagnosing MSA can be difficult, particularly in the early stages because many of the features are similar to those observed in Parkinson’s disease. […] In addition to taking a persons medical and family history and performing a neurological examination, a doctor may order tests to support the diagnosis. These tests might include: […] Brain scans (Neuroimaging): Magnetic resonance imaging (MRI) may identify changes that suggest MSA or rule out other causes of the symptoms. […] People with MSA typically do not see their systems improve long-term when taking medicines commonly prescribed for treating Parkinsons disease. If Parkinsons drugs are not effective for the treating the disease, that finding can help support the diagnosis of MSA. […] NINDS-funded scientists are using special brain imaging tools to develop biomarkers (signs that may indicate risk of a disease and improve diagnosis) that can distinguish MSA from other movement disorders and track disease-specific neurodegeneration over time. […] NINDS-supported scientists also are studying whether identifying specific types of abnormal protein alpha-synuclein can help differentially diagnose MSA and other neurodegenerative diseases.

• #40 The Diagnosis and Management 
of Multiple System Atrophy | MDedge Neurology

  https://www.mdedge9-ma1.mdedge.com/neurology/article/103123/rare-diseases/diagnosis-and-management-multiple-system-atrophy

  Although multiple system atrophy (MSA) cannot be cured, neurologists can help patients manage its associated symptoms such as bladder and autonomic dysfunction. MSA may cause symptoms similar to those of Parkinsons disease, and the ability to distinguish between the two disorders is essential for providing an accurate prognosis, according to a lecture given at Vanderbilt Universitys 38th Annual Contemporary Clinical Neurology Symposium. […] The diagnosis of MSA requires a reduction in systolic blood pressure of at least 30 mmHg after three minutes of standing from a recumbent position. […] Obtaining standing blood pressure and asking patients to keep a blood pressure log can help establish neurogenic orthostatic hypotension, said Dr. Hedera. […] More than 80% of people with MSA have REM sleep behavior disorder, which has emerged as a sensitive indicator of MSA.

• #41 The Diagnosis and Management 
of Multiple System Atrophy | MDedge Neurology

  https://www.mdedge9-ma1.mdedge.com/neurology/article/103123/rare-diseases/diagnosis-and-management-multiple-system-atrophy

  MSA also is associated with stridor and head drop, and these symptoms should raise neurologists suspicion of MSA. […] If a patient presents with parkinsonism on both sides of the body, it is unlikely that he or she has Parkinsons disease, which typically has an asymmetric presentation, said Dr. Hedera. […] Although clinical criteria are more important for establishing a diagnosis of MSA, imaging can be useful, said Dr. Hedera. […] A DAT scan indicates striatal dopamine binding. […] An MIBG scan allows neurologists to visualize neuroadrenary uptake and catecholaminergic innervation in vivo. […] Neurologists should consult with their nuclear medicine specialists to identify the cutoff between peripheral and central autonomic failure, said Dr. Hedera.

• #42 Clinical and Imaging Features of Multiple System Atrophy: Challenges for an Early and Clinically Definitive Diagnosis

  https://www.e-jmd.org/journal/view.php?doi=10.14802/jmd.18020

  The presence of autonomic failure and cerebellar ataxia were the leading causes of misdiagnosis of DLB and progressive supranuclear palsy (PSP), respectively. […] Thus, it is crucial to establish well-validated biomarkers for a very early and clinically definitive diagnosis. […] However, the utility of these findings has not been investigated for patients with MSA during the early stages, when the clinical diagnosis remains uncertain. […] Currently, several biomarkers, such as DWI, automated and observer-independent volumetric MRI, skin biopsy, -syn PET imaging, and blood and CSF biomarkers that have the potential for overcoming such limitations, are under development. […] To develop early diagnostic criteria, prospective image-omics cohort studies focusing on patients with MSA who show isolated autonomic failure or motor involvement will be necessary.

• #43 Clinical and Imaging Features of Multiple System Atrophy: Challenges for an Early and Clinically Definitive Diagnosis

  https://www.e-jmd.org/journal/view.php?doi=10.14802/jmd.18020

  The presence of autonomic failure and cerebellar ataxia were the leading causes of misdiagnosis of DLB and progressive supranuclear palsy (PSP), respectively. […] Thus, it is crucial to establish well-validated biomarkers for a very early and clinically definitive diagnosis. […] However, the utility of these findings has not been investigated for patients with MSA during the early stages, when the clinical diagnosis remains uncertain. […] Currently, several biomarkers, such as DWI, automated and observer-independent volumetric MRI, skin biopsy, -syn PET imaging, and blood and CSF biomarkers that have the potential for overcoming such limitations, are under development. […] To develop early diagnostic criteria, prospective image-omics cohort studies focusing on patients with MSA who show isolated autonomic failure or motor involvement will be necessary.

• #44 Clinical and Imaging Features of Multiple System Atrophy: Challenges for an Early and Clinically Definitive Diagnosis

  https://www.e-jmd.org/journal/view.php?doi=10.14802/jmd.18020

  The presence of autonomic failure and cerebellar ataxia were the leading causes of misdiagnosis of DLB and progressive supranuclear palsy (PSP), respectively. […] Thus, it is crucial to establish well-validated biomarkers for a very early and clinically definitive diagnosis. […] However, the utility of these findings has not been investigated for patients with MSA during the early stages, when the clinical diagnosis remains uncertain. […] Currently, several biomarkers, such as DWI, automated and observer-independent volumetric MRI, skin biopsy, -syn PET imaging, and blood and CSF biomarkers that have the potential for overcoming such limitations, are under development. […] To develop early diagnostic criteria, prospective image-omics cohort studies focusing on patients with MSA who show isolated autonomic failure or motor involvement will be necessary.

• #45 Diagnosis of multiple system atrophy – PubMed

  https://pubmed.ncbi.nlm.nih.gov/29111419/

  Multiple system atrophy (MSA) may be difficult to distinguish clinically from other disorders, particularly in the early stages of the disease. An autonomic-only presentation can be indistinguishable from pure autonomic failure. Patients presenting with parkinsonism may be misdiagnosed as having Parkinson disease. Patients presenting with the cerebellar phenotype of MSA can mimic other adult-onset ataxias due to alcohol, chemotherapeutic agents, lead, lithium, and toluene, or vitamin E deficiency, as well as paraneoplastic, autoimmune, or genetic ataxias. A careful medical history and meticulous neurological examination remain the cornerstone for the accurate diagnosis of MSA. Ancillary investigations are helpful to support the diagnosis, rule out potential mimics, and define therapeutic strategies. This review summarizes diagnostic investigations useful in the differential diagnosis of patients with suspected MSA. Currently used techniques include structural and functional brain imaging, cardiac sympathetic imaging, cardiovascular autonomic testing, olfactory testing, sleep study, urological evaluation, and dysphagia and cognitive assessments. Despite advances in the diagnostic tools for MSA in recent years and the availability of consensus criteria for clinical diagnosis, the diagnostic accuracy of MSA remains sub-optimal. As other diagnostic tools emerge, including skin biopsy, retinal biomarkers, blood and cerebrospinal fluid biomarkers, and advanced genetic testing, a more accurate and earlier recognition of MSA should be possible, even in the prodromal stages. This has important implications as misdiagnosis can result in inappropriate treatment, patient and family distress, and erroneous eligibility for clinical trials of disease-modifying drugs.

• #46 Diagnosis of multiple system atrophy – PubMed

  https://pubmed.ncbi.nlm.nih.gov/29111419/

  Multiple system atrophy (MSA) may be difficult to distinguish clinically from other disorders, particularly in the early stages of the disease. An autonomic-only presentation can be indistinguishable from pure autonomic failure. Patients presenting with parkinsonism may be misdiagnosed as having Parkinson disease. Patients presenting with the cerebellar phenotype of MSA can mimic other adult-onset ataxias due to alcohol, chemotherapeutic agents, lead, lithium, and toluene, or vitamin E deficiency, as well as paraneoplastic, autoimmune, or genetic ataxias. A careful medical history and meticulous neurological examination remain the cornerstone for the accurate diagnosis of MSA. Ancillary investigations are helpful to support the diagnosis, rule out potential mimics, and define therapeutic strategies. This review summarizes diagnostic investigations useful in the differential diagnosis of patients with suspected MSA. Currently used techniques include structural and functional brain imaging, cardiac sympathetic imaging, cardiovascular autonomic testing, olfactory testing, sleep study, urological evaluation, and dysphagia and cognitive assessments. Despite advances in the diagnostic tools for MSA in recent years and the availability of consensus criteria for clinical diagnosis, the diagnostic accuracy of MSA remains sub-optimal. As other diagnostic tools emerge, including skin biopsy, retinal biomarkers, blood and cerebrospinal fluid biomarkers, and advanced genetic testing, a more accurate and earlier recognition of MSA should be possible, even in the prodromal stages. This has important implications as misdiagnosis can result in inappropriate treatment, patient and family distress, and erroneous eligibility for clinical trials of disease-modifying drugs.

• #47 Azthena logo with the word Azthena

  https://www.news-medical.net/health/How-is-Multiple-System-Atrophy-Diagnosed.aspx

  The diagnosis of MSA can be challenging because its initial symptoms resemble those of other diseases. MSA can only be conclusively diagnosed through examination of the brain and nervous system. A finding of glial cytoplasmic inclusions with an abnormal build up of alpha-synuclein in combination with degeneration of the specific areas of the brain indicates a definitive diagnosis of MSA. […] Possible MSA is diagnosed in an adult with Parkinsonism or cerebellar syndrome, at least one symptom of autonomic or urogenital dysfunction, and one additional symptom. The diagnosis becomes probable if the same patient is resistant to a medication used to treat Parkinson’s disease. […] Some patient characteristics do not support a diagnosis of MSA. Symptom onset before the age of 30 or after 75 is not consistent with MSA. As well, a family history of ataxia or Parkinson’s disease makes MSA unlikely. Hallucinations and dementia are inconsistent with MSA, as is a classic, Parkinsonian pill rolling tremor or clinically significant neuropathy. Some physical exam and laboratory findings are also contradictory to MSA. […] Because MSA is difficult to diagnose in its early stages, there is sometimes a delay in getting the correct diagnosis.

• #48 Multiple System Atrophy (MSA) – Brain Support Network

  https://www.brainsupportnetwork.org/education/multiple-system-atrophy/

  Possible Diagnosis of MSA (Table 2): Note that Possible Diagnosis requires that at least one additional symptom from the list of Additional Symptoms of Possible MSA. […] Additional symptoms of possible MSA (Table 3): Babinski sign with hyperreflexia, Stridor. […] Symptoms supporting a diagnosis of MSA (Table 4): Orofacial dystonia, Disproportionate antecollis, Camptocormia (severe anterior flexion of the spine) and/or Pisa syndrome (severe lateral flexion of the spine), Contractures of hands or feet, Inspiratory sighs, Severe dysphonia, Severe dysarthria, New or increased snoring, Cold hands and feet, Pathologic laughter or crying, Jerky, myoclonic postural/action tremor. […] Cautionary Symptoms not supporting a diagnosis of MSA (Table 4): Classic pill-rolling rest tremor, Clinically significant neuropathy, Hallucinations not induced by drugs, Onset after age 75 years, Family history of ataxia or parkinsonism, Dementia (on DSM-IV), White matter lesions suggesting multiple sclerosis.

• #49 Azthena logo with the word Azthena

  https://www.news-medical.net/health/How-is-Multiple-System-Atrophy-Diagnosed.aspx

  The diagnosis of MSA can be challenging because its initial symptoms resemble those of other diseases. MSA can only be conclusively diagnosed through examination of the brain and nervous system. A finding of glial cytoplasmic inclusions with an abnormal build up of alpha-synuclein in combination with degeneration of the specific areas of the brain indicates a definitive diagnosis of MSA. […] Possible MSA is diagnosed in an adult with Parkinsonism or cerebellar syndrome, at least one symptom of autonomic or urogenital dysfunction, and one additional symptom. The diagnosis becomes probable if the same patient is resistant to a medication used to treat Parkinson’s disease. […] Some patient characteristics do not support a diagnosis of MSA. Symptom onset before the age of 30 or after 75 is not consistent with MSA. As well, a family history of ataxia or Parkinson’s disease makes MSA unlikely. Hallucinations and dementia are inconsistent with MSA, as is a classic, Parkinsonian pill rolling tremor or clinically significant neuropathy. Some physical exam and laboratory findings are also contradictory to MSA. […] Because MSA is difficult to diagnose in its early stages, there is sometimes a delay in getting the correct diagnosis.

• #50 Multiple system atrophy – Wikipedia

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

  Both MRI and CT scanning may show a decrease in the size of the cerebellum and pons in those with cerebellar features (MSA-C). […] MRI changes are not required to diagnose the disease as these features are often absent, especially early in the course of the disease. […] Pathological diagnosis can only be made at autopsy by finding abundant glial cytoplasmic inclusions (GCIs) on histological specimens of the central nervous system. […] In 2020, researchers at The University of Texas Health Science Center at Houston concluded that protein misfolding cyclic amplification could be used to distinguish between two progressive neurodegenerative diseases, Parkinson’s disease and multiple system atrophy, being the first process to give an objective diagnosis of Multiple System Atrophy instead of just a differential diagnosis. […] The current terminology and diagnostic criteria for the disease were established at a 2007 conference of experts and set forth in a position paper.

• #51 Multiple System Atrophy (MSA): Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/17250-multiple-system-atrophy

  Theres only one way to definitively confirm MSA: Analyzing brain tissue after a person dies. Thats because its impossible to identify a buildup of -synuclein in areas of the brain while a person is alive. […] While a person is alive, healthcare providers may suspect MSA based on that persons symptoms, medical history, family history and whether or not they respond to certain treatments. Its common for healthcare providers to initially diagnose a person as having Parkinsons disease or another form of parkinsonism, and then to revise the diagnosis when other symptoms appear or when certain treatments dont work. […] Some key features that separate MSA from Parkinsons disease include: MSA progresses faster. People with Parkinsons disease usually take years to develop autonomic dysfunction. With MSA, autonomic dysfunction can start within a year.

• #52 Top Review Article, Movement Disorders

  https://www.movementdisorders.org/MDS/Moving-Along/MDS-Criteria-Diagnosis-MSA.htm

  The MDS MSA criteria are designed for clinical practice, for the inclusion of patients in clinical trials, and for research purposes. It has four levels of diagnostic accuracy: neuropathologically established MSA, clinically established MSA, clinically probable MSA and possible prodromal MSA. Clinically established MSA provides maximum specificity with acceptable sensitivity, clinically probable MSA allows balanced sensitivity and specificity, while a new research category of possible prodromal MSA has low specificity. […] Clinically established and clinically probable MSA require a combination of core clinical features (autonomic failure, parkinsonism and cerebellar syndrome), supportive motor and non-motor features (previously termed red flags), brain MRI findings and an absence of exclusion criteria.

• #53

  https://link.springer.com/article/10.1007/s12311-022-01453-w

  With its variable clinical presentation, MSA represents a major diagnostic challenge throughout its disease course. Due to isolated autonomic complaints at prodromal stages, patients with MSA may refer to other specialists such as cardiologists or urologists first. When motor symptoms develop, but are still very mild, MSA may not be distinguishable from Parkinsons disease (PD) or other causes of sporadic adult-onset cerebellar ataxia (SAOA). Overlapping features with other atypical parkinsonian disorders, such as dementia with Lewy bodies (DLB) or progressive supranuclear palsy (PSP), eventually impact on MSA diagnostic accuracy also at more advanced disease stages. […] The new MDS MSA criteria have been developed to increase the diagnostic accuracy of MSA, particularly in the early disease stages. These criteria include four levels of diagnostic accuracy: neuropathologically established MSA, clinically established MSA, clinically probable MSA, and possible prodromal MSA. Neuropathologically established MSA is a postmortem-confirmed diagnostic category, which equals the definite MSA category of the 2008 consensus criteria. The clinically established MSA category is designed to secure maximum specificity, with acceptable sensitivity, while the clinically probable MSA category allows for a balanced sensitivity and specificity. Possible prodromal MSA is a pure research category designed to capture patients in the prodromal phase of the disease. Clinical MSA categories are composed of essential and core clinical features, supportive motor and non-motor features, and absence of exclusion criteria. The presence of the MSA-specific brain MRI marker is required for the clinically established category only, while the clinically probable category is based exclusively on clinical features. The diagnostic accuracy of the MDS MSA criteria will be verified in a prospective clinical multicenter study.

• #54 Top Review Article, Movement Disorders

  https://www.movementdisorders.org/MDS/Moving-Along/MDS-Criteria-Diagnosis-MSA.htm

  Possible prodromal MSA is a research category designed to capture patients at their early disease stage. Patients in this category are those with isolated autonomic failure and REM sleep behavior disorder, subtle motor signs and an absence of exclusion criteria. […] Most supportive biomarkers were not included in the new criteria due to their still limited availability and a need for validation. However, we encourage clinicians to investigate their presence in patients with all MSA categories whenever available so that more data will be available in the future. […] The MoDiMSA-SG is conducting a prospective multicenter validation study on the new MDS MSA criteria. Validation is particularly needed for the research category of possible prodromal MSA and for the supportive biomarkers. Emerging data from ongoing and future studies will help refine the MDS MSA criteria. A systematic Horizon Scanning methodology for picking up diagnostic innovations will be considered for regular criteria updates.

• #55 Pathology Outlines – Multiple system atrophy

  https://www.pathologyoutlines.com/topic/cnsmultiplesystematrophy.html

  Multiple system atrophy (MSA) is a sporadic, neurodegenerative disease with core clinical features of parkinsonism, autonomic dysfunction and cerebellar ataxia. […] There are 4 diagnostic categories of MSA: neuropathologically established, clinically established, clinically probable and possible prodromal. […] Neuropathologic diagnosis can only be made by postmortem examination. […] Clinically established diagnosis requires a sporadic, progressive, adult onset disease with autonomic dysfunction, either cerebellar ataxia syndrome or levodopa unresponsive parkinsonism, 2 supportive clinical features, and 1 MRI marker. […] Clinically probable diagnosis requires a sporadic, progressive, adult onset disease with at least 2 of the following: parkinsonism, cerebellar ataxia or autonomic dysfunction, 1 supportive clinical feature. […] Possible prodromal diagnosis requires a sporadic, progressive, adult onset disease with at least 1 clinical nonmotor entry criteria and at least 1 clinical motor entry criteria.

• #56 Multiple System Atrophy: Practice Essentials, Background, Etiology and Pathophysiology

  https://emedicine.medscape.com/article/1154583-overview

  Red flags supporting the diagnosis of MSA include the following: Orofacial dystonia, Disproportionate antecollis, Severe anterior flexion of the spine (camptocormia), Severe lateral flexion of the spine (Pisa syndrome), Contractures of hands and feet, Inspiratory sighs, Severe dysphonia, Severe dysarthria, New or increased snoring, Cold hands and feet, Pathologic laughter or crying, Jerky myoclonic postural/action tremor.

• #57 Multiple System Atrophy (MSA) – Brain Support Network

  https://www.brainsupportnetwork.org/education/multiple-system-atrophy/

  Possible Diagnosis of MSA (Table 2): Note that Possible Diagnosis requires that at least one additional symptom from the list of Additional Symptoms of Possible MSA. […] Additional symptoms of possible MSA (Table 3): Babinski sign with hyperreflexia, Stridor. […] Symptoms supporting a diagnosis of MSA (Table 4): Orofacial dystonia, Disproportionate antecollis, Camptocormia (severe anterior flexion of the spine) and/or Pisa syndrome (severe lateral flexion of the spine), Contractures of hands or feet, Inspiratory sighs, Severe dysphonia, Severe dysarthria, New or increased snoring, Cold hands and feet, Pathologic laughter or crying, Jerky, myoclonic postural/action tremor. […] Cautionary Symptoms not supporting a diagnosis of MSA (Table 4): Classic pill-rolling rest tremor, Clinically significant neuropathy, Hallucinations not induced by drugs, Onset after age 75 years, Family history of ataxia or parkinsonism, Dementia (on DSM-IV), White matter lesions suggesting multiple sclerosis.

• #58 Clinical and Imaging Features of Multiple System Atrophy: Challenges for an Early and Clinically Definitive Diagnosis

  https://www.e-jmd.org/journal/view.php?doi=10.14802/jmd.18020

  Multiple system atrophy (MSA) is an adult-onset, progressive neurodegenerative disorder. Patients with MSA show various phenotypes during the course of their illness, including parkinsonism, cerebellar ataxia, autonomic failure, and pyramidal signs. […] The median duration from onset to the concomitant appearance of motor and autonomic symptoms is approximately 2 years but can range up to 14 years. As the presence of both motor and autonomic symptoms is essential for the current diagnostic criteria, early diagnosis is difficult when patients present with isolated autonomic failure or motor symptoms/signs. […] Recent studies have also revealed that patients with MSA may show nonsupporting features of MSA such as dementia, hallucinations, and vertical gaze palsy. To establish early diagnostic criteria and clinically definitive categorization for the successful development of disease-modifying therapy or symptomatic interventions for MSA, research should focus on the isolated phase and atypical symptoms to develop specific clinical, imaging, and fluid biomarkers that satisfy the requirements for objectivity, for semi- or quantitative measurements, and for uncomplicated, worldwide availability.

• #59 Clinical and Imaging Features of Multiple System Atrophy: Challenges for an Early and Clinically Definitive Diagnosis

  https://www.e-jmd.org/journal/view.php?doi=10.14802/jmd.18020

  Multiple system atrophy (MSA) is an adult-onset, progressive neurodegenerative disorder. Patients with MSA show various phenotypes during the course of their illness, including parkinsonism, cerebellar ataxia, autonomic failure, and pyramidal signs. […] The median duration from onset to the concomitant appearance of motor and autonomic symptoms is approximately 2 years but can range up to 14 years. As the presence of both motor and autonomic symptoms is essential for the current diagnostic criteria, early diagnosis is difficult when patients present with isolated autonomic failure or motor symptoms/signs. […] Recent studies have also revealed that patients with MSA may show nonsupporting features of MSA such as dementia, hallucinations, and vertical gaze palsy. To establish early diagnostic criteria and clinically definitive categorization for the successful development of disease-modifying therapy or symptomatic interventions for MSA, research should focus on the isolated phase and atypical symptoms to develop specific clinical, imaging, and fluid biomarkers that satisfy the requirements for objectivity, for semi- or quantitative measurements, and for uncomplicated, worldwide availability.

• #60 Pitfalls in the Diagnosis of Multiple System Atrophy

  https://www.movementdisorders.org/MDS/Scientific-Issues-Committee-Blog/Pitfalls-in-the-diagnosis-of-multiple-system-atrophy.htm

  The median time from the presentation of the initial symptom to combined motor and autonomic dysfunction in MSA (probable MSA) is 2 years, but ranges from 1 to 19 years. Therefore, many patients with MSA who present isolated autonomic failure, parkinsonism, or cerebellar ataxia during the early phase of illness will not be diagnosed as possible or probable based on the current diagnostic criteria. […] The current clinical diagnostic criteria for multiple system atrophy are very good but they could be improved upon. At the moment, the biggest limitation is our inability to diagnose the disease early on in its clinical course. […] Even when the disease is advanced, there is a currently marked difference in diagnostic accuracy between specialized centers and general neurology or primary care clinics. This gap could be reduced and the level of diagnostic certainty of specialized centers increased with clinically diagnosed definite MSA criteria.

• #61 Clinical and Imaging Features of Multiple System Atrophy: Challenges for an Early and Clinically Definitive Diagnosis

  https://www.e-jmd.org/journal/view.php?doi=10.14802/jmd.18020

  Multiple system atrophy (MSA) is an adult-onset, progressive neurodegenerative disorder. Patients with MSA show various phenotypes during the course of their illness, including parkinsonism, cerebellar ataxia, autonomic failure, and pyramidal signs. […] The median duration from onset to the concomitant appearance of motor and autonomic symptoms is approximately 2 years but can range up to 14 years. As the presence of both motor and autonomic symptoms is essential for the current diagnostic criteria, early diagnosis is difficult when patients present with isolated autonomic failure or motor symptoms/signs. […] Recent studies have also revealed that patients with MSA may show nonsupporting features of MSA such as dementia, hallucinations, and vertical gaze palsy. To establish early diagnostic criteria and clinically definitive categorization for the successful development of disease-modifying therapy or symptomatic interventions for MSA, research should focus on the isolated phase and atypical symptoms to develop specific clinical, imaging, and fluid biomarkers that satisfy the requirements for objectivity, for semi- or quantitative measurements, and for uncomplicated, worldwide availability.

• #62 Multiple System Atrophy: Advances in Diagnosis and Therapy

  https://www.e-jmd.org/journal/view.php?doi=10.14802/jmd.22082

  This review summarizes improvements in understanding the pathophysiology and early clinical symptoms of multiple system atrophy (MSA) and advancements in diagnostic methods and disease-modifying therapies for the condition. […] In 2022, the Movement Disorder Society proposed new diagnostic criteria to develop disease-modifying therapies and promote clinical trials of MSA since the second consensus was proposed in 2008. […] The second consensus criteria, which are widely used to diagnose MSA, were not sufficiently sensitive for the early stages; therefore, since many patients with MSA have been excluded from clinical trials for disease-modifying therapy, the MDS developed the current criteria for MSA diagnosis to improve accuracy early in the course of the disease. […] According to the MDS criteria, MSA is classified into four levels of certainty: neuropathologically established MSA, clinically established MSA, clinically probable MSA, and possible prodromal MSA.

• #63 Clinical and Imaging Features of Multiple System Atrophy: Challenges for an Early and Clinically Definitive Diagnosis

  https://www.e-jmd.org/journal/view.php?doi=10.14802/jmd.18020

  The presence of autonomic failure and cerebellar ataxia were the leading causes of misdiagnosis of DLB and progressive supranuclear palsy (PSP), respectively. […] Thus, it is crucial to establish well-validated biomarkers for a very early and clinically definitive diagnosis. […] However, the utility of these findings has not been investigated for patients with MSA during the early stages, when the clinical diagnosis remains uncertain. […] Currently, several biomarkers, such as DWI, automated and observer-independent volumetric MRI, skin biopsy, -syn PET imaging, and blood and CSF biomarkers that have the potential for overcoming such limitations, are under development. […] To develop early diagnostic criteria, prospective image-omics cohort studies focusing on patients with MSA who show isolated autonomic failure or motor involvement will be necessary.

• #64 Improving the Accuracy of Diagnosis for Multiple-System Atrophy Using Deep Learning-Based Method

  https://www.mdpi.com/2079-7737/11/7/951

  Therefore, we decided to use machine learning and conventional statistical methods to determine the features that influence diagnosis of the MSA subtypes in the earlier classification. […] We show that machine learning can increase the diagnostic accuracy of MSA to >80%, and we identify the important features for diagnosis of MSA and their relationship with each MSA subtype using the pointwise linear model. […] This study shows that use of a machine learning can improve the diagnostic accuracy for MSA.

• #65 Diagnosis of multiple system atrophy – PubMed

  https://pubmed.ncbi.nlm.nih.gov/29111419/

  Multiple system atrophy (MSA) may be difficult to distinguish clinically from other disorders, particularly in the early stages of the disease. An autonomic-only presentation can be indistinguishable from pure autonomic failure. Patients presenting with parkinsonism may be misdiagnosed as having Parkinson disease. Patients presenting with the cerebellar phenotype of MSA can mimic other adult-onset ataxias due to alcohol, chemotherapeutic agents, lead, lithium, and toluene, or vitamin E deficiency, as well as paraneoplastic, autoimmune, or genetic ataxias. A careful medical history and meticulous neurological examination remain the cornerstone for the accurate diagnosis of MSA. Ancillary investigations are helpful to support the diagnosis, rule out potential mimics, and define therapeutic strategies. This review summarizes diagnostic investigations useful in the differential diagnosis of patients with suspected MSA. Currently used techniques include structural and functional brain imaging, cardiac sympathetic imaging, cardiovascular autonomic testing, olfactory testing, sleep study, urological evaluation, and dysphagia and cognitive assessments. Despite advances in the diagnostic tools for MSA in recent years and the availability of consensus criteria for clinical diagnosis, the diagnostic accuracy of MSA remains sub-optimal. As other diagnostic tools emerge, including skin biopsy, retinal biomarkers, blood and cerebrospinal fluid biomarkers, and advanced genetic testing, a more accurate and earlier recognition of MSA should be possible, even in the prodromal stages. This has important implications as misdiagnosis can result in inappropriate treatment, patient and family distress, and erroneous eligibility for clinical trials of disease-modifying drugs.

• #66 Speech acoustic indices for differential diagnosis between Parkinson’s disease, multiple system atrophy and progressive supranuclear palsy | npj Parkinson’s Disease

  https://www.nature.com/articles/s41531-022-00389-6

  Vocal assessment may provide a low-cost alternative screening method to existing subjective clinical assessment and imaging diagnostic approaches. […] There exists clinical criteria for the diagnosis of „probable” and „possible” MSA and PSP, based on clinical or/and imaging features, but the definite MSA and PSP diagnosis requires postmortem confirmation by a neuropathological examination. […] Currently, several imaging techniques such as MRI, positron emission tomography, diffusion tensor imaging, single-photon emission computed tomography and transcranial sonography can be used to assess various parkinsonian syndromes. […] It is now well established that dysarthria, a class of motor speech impairments resulting from neurological disorders, is an early clinical feature of PD and APS.

• #67 Speech acoustic indices for differential diagnosis between Parkinson’s disease, multiple system atrophy and progressive supranuclear palsy | npj Parkinson’s Disease

  https://www.nature.com/articles/s41531-022-00389-6

  Our findings indicate that speech disorders reflect the differing underlying pathophysiology of tauopathy in PSP and α-synucleinopathy in MSA. […] The combination of distinct speech patterns via objective acoustic evaluation was able to discriminate between PSP and MSA with a very high accuracy of up to 88.6%. […] Our findings highlight that detailed speech analysis can be used as a potential diagnostic screening tool to distinguish between PSP, MSA, and PD.

• #68 Multiple System Atrophy | National Institute of Neurological Disorders and Stroke

  https://www.ninds.nih.gov/health-information/disorders/multiple-system-atrophy

  Diagnosing MSA can be difficult, particularly in the early stages because many of the features are similar to those observed in Parkinson’s disease. […] In addition to taking a persons medical and family history and performing a neurological examination, a doctor may order tests to support the diagnosis. These tests might include: […] Brain scans (Neuroimaging): Magnetic resonance imaging (MRI) may identify changes that suggest MSA or rule out other causes of the symptoms. […] People with MSA typically do not see their systems improve long-term when taking medicines commonly prescribed for treating Parkinsons disease. If Parkinsons drugs are not effective for the treating the disease, that finding can help support the diagnosis of MSA. […] NINDS-funded scientists are using special brain imaging tools to develop biomarkers (signs that may indicate risk of a disease and improve diagnosis) that can distinguish MSA from other movement disorders and track disease-specific neurodegeneration over time. […] NINDS-supported scientists also are studying whether identifying specific types of abnormal protein alpha-synuclein can help differentially diagnose MSA and other neurodegenerative diseases.

• #69 Top Review Article, Movement Disorders

  https://www.movementdisorders.org/MDS/Moving-Along/MDS-Criteria-Diagnosis-MSA.htm

  Possible prodromal MSA is a research category designed to capture patients at their early disease stage. Patients in this category are those with isolated autonomic failure and REM sleep behavior disorder, subtle motor signs and an absence of exclusion criteria. […] Most supportive biomarkers were not included in the new criteria due to their still limited availability and a need for validation. However, we encourage clinicians to investigate their presence in patients with all MSA categories whenever available so that more data will be available in the future. […] The MoDiMSA-SG is conducting a prospective multicenter validation study on the new MDS MSA criteria. Validation is particularly needed for the research category of possible prodromal MSA and for the supportive biomarkers. Emerging data from ongoing and future studies will help refine the MDS MSA criteria. A systematic Horizon Scanning methodology for picking up diagnostic innovations will be considered for regular criteria updates.

• #70 Multiple system atrophy | Practical Neurology

  https://pn.bmj.com/content/23/3/208

  In April 2022, the Movement Disorders Society published new diagnostic criteria for MSA defining four levels of certainty: neuropathologically (postmortem) established, clinically established, clinically probable and possible prodromal MSA. […] MSA patients can present to almost any branch of neurology, and often have consulted urology, gynaecology or cardiology before coming to neurology. We recommend considering the diagnosis for any adult with: Parkinsonism or ataxia, Autonomic dysfunction, Atypical resting/action tremor with a myoclonic component, Mixed dysphonia with elements of hypophonia, cerebellar dysarthria and spasticity, Abnormal posturing with Pisa syndrome or disproportionate antecollis, Rapid eye movement (REM) sleep behaviour disorder. […] The only tests needed to fulfil core clinical criteria are a postvoid bladder residual volume and a lying and standing blood pressure. However, if uncertainty remains, other investigations can help to prove autonomic involvement, for example formal urodynamics showing detrusor sphincter dyssynergia or external anal sphincter electromyography showing chronic reinnervation changes in Onuf’s nucleus.

• #71 Multiple system atrophy (MSA) // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/multiple-system-atrophy-msa

  Diagnosing multiple system atrophy (MSA) can be challenging. Certain signs and symptoms of MSA such as muscle rigidity and unsteady gait also occur with other disorders, such as Parkinson’s disease. This can make diagnosis more difficult. The physical exam, along with various autonomic tests and imaging studies, can help your doctor determine whether the diagnosis is probable MSA or possible MSA. Because of difficulty with making the diagnosis, some people are never properly diagnosed. […] If your doctor thinks that you may have multiple system atrophy, they will take your medical history, perform a physical exam and possibly order blood tests. Brain imaging scans, such as an MRI, can show signs that may suggest MSA and also help determine if there are other causes that may be contributing to your symptoms.

• #72 Living with MSA :: Fight Parkinson’s – Together we can

  https://www.fightparkinsons.org.au/living-with-msa/

  MSA is difficult to diagnose. There are no blood tests or brain scans that can diagnose it, although tests and scans are commonly used to rule out other conditions that can cause similar symptoms. […] It is common for people with early symptoms of MSA to be misdiagnosed with Parkinsons disease. A limited response to Parkinsons disease medications is a key indicator of the need to review a diagnosis of Parkinsons disease. […] Because MSA is rare, many doctors are not even aware of the condition and do not know what symptoms to look for. It is important to see a neurologist (a doctor specialising in brain conditions). People with MSA should visit their neurologist regularly for ongoing treatment and advice. If possible see a neurologist with expertise in movement disorders as they are more likely to be up-to-date with the latest advances in treatment and management.

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