Materiały źródłowe

• #1 Diagnosis and management of progressive ataxia in adults

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6585307/

  Progressive ataxia in adults can be difficult to diagnose, owing to its heterogeneity and the rarity of individual causes. Many patients remain undiagnosed (idiopathic ataxia). This paper provides suggested diagnostic pathways for the general neurologist, based on Ataxia UKs guidelines for professionals. MR brain scanning can provide diagnostic clues, as well as identify structural causes such as tumours and multiple sclerosis. Advances in molecular genetics, including the wider and cheaper availability of next-generation sequencing, have enabled clinicians to identify many more cases with a genetic cause. […] The age of onset and the rate of ataxia progression are perhaps the two most useful clinical features pointing to the cause. […] Brain imaging with MRI (or CT, if MRI is contraindicated) is essential in almost everyone with ataxia. While it is rarely diagnostic, it often provides helpful diagnostic clues, as well as ruling out structural pathology.

• #1 Ataxia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/ataxia/diagnosis-treatment/drc-20355655

  When diagnosing ataxia, your healthcare professional looks for a treatable cause. You’ll likely have physical and neurological exams. Your healthcare professional checks your vision, balance, coordination and reflexes. You also might need: […] Blood tests. These might help find treatable causes of ataxia. […] Imaging studies. An MRI of the brain might help find the possible causes. An MRI can sometimes show shrinkage of the cerebellum and other brain structures in people with ataxia. It also may show other treatable findings, such as a blood clot or benign tumor. […] A spinal tap, also known as lumbar puncture. This test may be helpful if an infection, swelling also called inflammation or certain diseases could be causing ataxia. A needle is inserted into the lower back between two bones to remove a small sample of cerebrospinal fluid. The fluid, which surrounds and protects the brain and spinal cord, is sent to a laboratory for testing. […] Genetic testing. Your healthcare professional might recommend genetic testing to see if a gene change may be causing a condition that leads to ataxia. Gene tests are available for many, but not all, hereditary ataxias.

• #2 Guidelines on the diagnosis and management of the progressive ataxias | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1013-9

  The progressive ataxias are a group of rare and complicated neurological disorders, knowledge of which is often poor among healthcare professionals (HCPs). […] The patient support group Ataxia UK, recognising the lack of awareness of this group of conditions, has developed medical guidelines for the diagnosis and management of ataxia. […] Over 100 different disorders can lead to ataxia, so diagnosis can be challenging. […] The early diagnosis and management of the (currently) few reversible causes are also of paramount importance. […] The guidelines aim to assist HCPs when caring for patients with progressive ataxia, indicate evidence-based (where it exists) and best practice, and act overall as a useful resource for clinicians involved in managing ataxic patients. […] These guidelines focus on the progressive ataxias, and exclude disorders where ataxia is an epiphenomenon of another neurological condition.

• #2

  https://www.nhs.uk/conditions/ataxia/diagnosis/

  Visit your GP if you or your child have unexplained symptoms such as balance and co-ordination problems or difficulty walking, talking or swallowing. […] Your GP may ask whether you have any family history of ataxia. […] You may be referred for a series of tests to rule out other possible causes of your symptoms, such as an infection. […] If your symptoms suggest you may have acquired ataxia because of a serious underlying condition, it’s likely you’ll be admitted immediately to your nearest hospital. […] Otherwise, you’ll be referred to a neurologist (a specialist in brain and nervous system conditions) for further testing or, in the case of children, a paediatrician. […] Genetic testing involves taking a sample of blood and testing the DNA in it for any genetic mutation known to cause ataxia.

• #3 Diagnosis and management of progressive ataxia in adults

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6585307/

  Progressive ataxia in adults can be difficult to diagnose, owing to its heterogeneity and the rarity of individual causes. Many patients remain undiagnosed (idiopathic ataxia). This paper provides suggested diagnostic pathways for the general neurologist, based on Ataxia UKs guidelines for professionals. MR brain scanning can provide diagnostic clues, as well as identify structural causes such as tumours and multiple sclerosis. Advances in molecular genetics, including the wider and cheaper availability of next-generation sequencing, have enabled clinicians to identify many more cases with a genetic cause. […] The age of onset and the rate of ataxia progression are perhaps the two most useful clinical features pointing to the cause. […] Brain imaging with MRI (or CT, if MRI is contraindicated) is essential in almost everyone with ataxia. While it is rarely diagnostic, it often provides helpful diagnostic clues, as well as ruling out structural pathology.

• #4 Acute Ataxia in Adults (Diagnosis) : Emergency Care BC

  https://emergencycarebc.ca/clinical_resource/clinical-summary/acute-ataxia-in-adults-diagnosis/

  Acute Ataxia in Adults (Diagnosis) […] New-onset, hyperacute ataxia (minutes to hours) is a medical emergency → urgent neuroimaging for suspected vascular event. […] Presentation is varied and may only present with one symptom. The commonest ataxic presentations include uncoordinated intentional movements, balance issues, and gait abnormalities (e.g., wide-based gait). […] Management depends on the underlying etiology. […] Refer subacute and chronic cases to neurology. […] Admit patients with red flag features […] Consult neurology for unclear presentations and for further investigation of subacute or chronic ataxia. […] Ruled out “can’t miss” etiology with history, physical, labs, neuroimaging. […] Diagnosis identified and/or patient has minimal risk of acutely worsening.

• #5 Ataxia Causes and Diagnoses | Northwestern Medicine

  https://www.nm.org/conditions-and-care-areas/neurosciences/movement-disorders/ataxia/causes-and-diagnoses

  Ataxia is caused by many different diseases. It is important for people with ataxia to have a thorough diagnostic evaluation by an experienced neurologist. This helps rule out treatable conditions and create a care plan to manage symptoms. […] Tests that help diagnose ataxia generally include: […] During the clinical evaluation, a physician who specializes in ataxia might detect clues, such as symptoms and physical findings. These may suggest a certain form of ataxia. The evaluation helps your care team plan the diagnostic work-up. […] Brain imaging studies (such as magnetic resonance imaging or MRI) are useful when looking for brain abnormalities that are often related to some forms of ataxia, such as „shrinkage” (atrophy) of the cerebellum. […] MRI can also help rule out other causes of ataxia such as stroke, tumors, MS and congenital malformations. […] Your care team may also perform genetic tests on blood samples. They will do this if they think the cause of ataxia is genetic. […] Your care team may recommend more tests, depending on your specific symptoms. These tests include:

• #6 Diagnosis and management of progressive ataxia in adults

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6585307/

  Progressive ataxia in adults can be difficult to diagnose, owing to its heterogeneity and the rarity of individual causes. Many patients remain undiagnosed (idiopathic ataxia). This paper provides suggested diagnostic pathways for the general neurologist, based on Ataxia UKs guidelines for professionals. MR brain scanning can provide diagnostic clues, as well as identify structural causes such as tumours and multiple sclerosis. Advances in molecular genetics, including the wider and cheaper availability of next-generation sequencing, have enabled clinicians to identify many more cases with a genetic cause. […] The age of onset and the rate of ataxia progression are perhaps the two most useful clinical features pointing to the cause. […] Brain imaging with MRI (or CT, if MRI is contraindicated) is essential in almost everyone with ataxia. While it is rarely diagnostic, it often provides helpful diagnostic clues, as well as ruling out structural pathology.

• #7 Ataxia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/ataxia/diagnosis-treatment/drc-20355655

  When diagnosing ataxia, your healthcare professional looks for a treatable cause. You’ll likely have physical and neurological exams. Your healthcare professional checks your vision, balance, coordination and reflexes. You also might need: […] Blood tests. These might help find treatable causes of ataxia. […] Imaging studies. An MRI of the brain might help find the possible causes. An MRI can sometimes show shrinkage of the cerebellum and other brain structures in people with ataxia. It also may show other treatable findings, such as a blood clot or benign tumor. […] A spinal tap, also known as lumbar puncture. This test may be helpful if an infection, swelling also called inflammation or certain diseases could be causing ataxia. A needle is inserted into the lower back between two bones to remove a small sample of cerebrospinal fluid. The fluid, which surrounds and protects the brain and spinal cord, is sent to a laboratory for testing. […] Genetic testing. Your healthcare professional might recommend genetic testing to see if a gene change may be causing a condition that leads to ataxia. Gene tests are available for many, but not all, hereditary ataxias.

• #8 Ataxia Causes and Diagnoses | Northwestern Medicine

  https://www.nm.org/conditions-and-care-areas/neurosciences/movement-disorders/ataxia/causes-and-diagnoses

  Ataxia is caused by many different diseases. It is important for people with ataxia to have a thorough diagnostic evaluation by an experienced neurologist. This helps rule out treatable conditions and create a care plan to manage symptoms. […] Tests that help diagnose ataxia generally include: […] During the clinical evaluation, a physician who specializes in ataxia might detect clues, such as symptoms and physical findings. These may suggest a certain form of ataxia. The evaluation helps your care team plan the diagnostic work-up. […] Brain imaging studies (such as magnetic resonance imaging or MRI) are useful when looking for brain abnormalities that are often related to some forms of ataxia, such as „shrinkage” (atrophy) of the cerebellum. […] MRI can also help rule out other causes of ataxia such as stroke, tumors, MS and congenital malformations. […] Your care team may also perform genetic tests on blood samples. They will do this if they think the cause of ataxia is genetic. […] Your care team may recommend more tests, depending on your specific symptoms. These tests include:

• #9 Investigations – Ataxia UK

  https://www.ataxia.org.uk/healthcare-professionals/resources-for-healthcare-professionals/medical-guidelines/diagnosis/investigations/

  If a child presents with ataxic symptoms, an urgent referral to local paediatric services is necessary. Targeted investigations will then depend on the clinical assessment. […] The investigation of acquired ataxia in children is generally more urgent because of the necessity of excluding posterior fossa and brainstem tumours. It is also important to consider that there is a need for investigation in children as there is a risk that the cause will be genetic, and their parents may wish to have further children. […] In first line investigation neuroimaging is mandatory, to exclude a tumour and to look for a white matter disorder or structural condition. MR imaging of the brain (+/- spine) is the best way to view the posterior fossa, but if urgent MR imaging is not available, a CT scan will help to exclude a tumour. If possible MR spectroscopy should be obtained as well. In acute ataxia MR angiography might be indicated. […] This document aims to provide recommendations for healthcare professionals on the diagnosis and management of people with progressive ataxia.

• #10 Diagnosis and management of progressive ataxia in adults | Practical Neurology

  https://pn.bmj.com/content/19/3/196

  Progressive ataxia in adults can be difficult to diagnose, owing to its heterogeneity and the rarity of individual causes. […] This paper provides suggested diagnostic pathways for the general neurologist, based on Ataxia UKs guidelines for professionals. […] MR brain scanning can provide diagnostic clues, as well as identify structural causes such as tumours and multiple sclerosis. […] Advances in molecular genetics, including the wider and cheaper availability of next-generation sequencing, have enabled clinicians to identify many more cases with a genetic cause. […] Finally, autoimmunity is probably an under-recognised cause of progressive ataxia: as well as patients with antigliadin antibodies there are smaller numbers with various antibodies, including some associated with cancer.

• #11

  https://www.nhs.uk/conditions/ataxia/diagnosis/

  Currently, tests can detect the mutations responsible for Friedreich’s ataxia, ataxia-telangiectasia and most of the spinocerebellar ataxias. […] Brain scans can be used to check for physical abnormalities in the brain that could be caused by certain types of hereditary ataxia. […] Some of the other tests you may have to help diagnose ataxia and determine how severe it is can include: a lumbar puncture where a sample of cerebrospinal fluid is taken from the base of the spine to check it for infection and any other abnormalities, nerve conduction studies and electromyography (EMG) tests used to assess the electrical activity in nerves and muscles, videofluoroscopy a continuous moving X-ray taken while you swallow different types of food and drink, an electrocardiogram (ECG) an assessment of the electrical activity of the heart, an echocardiogram an ultrasound scan of the heart.

• #12 Ataxia: Diagnosis & Treatment | NewYork-Presbyterian

  https://www.nyp.org/neuro/parkinsons-disease-movement-disorders/ataxia/treatment

  How Is Ataxia Diagnosed? Diagnosis Many hereditary types of ataxias can be identified with genetic testing. To rule out other disorders causing neurologic symptoms, other forms of testing may be used, including blood and urine tests, X-rays, and magnetic resonance imaging (MRI). […] Genetic testing can determine whether the ataxia is caused by a genetic gene mutation. Genetic testing is available for many forms of hereditary ataxia. This is done by testing the DNA in a blood sample for an abnormal gene known to cause ataxia. Genetic testing is available for Friedreichs ataxia, ataxia telangiectasia, and most forms of spinocerebellar ataxias. […] Investigators at both NewYork-Presbyterian Hospital campuses are conducting extensive science and clinical research to learn more about the causes of this condition and find new, more effective ways to diagnose and treat ataxia.

• #13 Ataxia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/ataxia/diagnosis-treatment/drc-20355655

  When diagnosing ataxia, your healthcare professional looks for a treatable cause. You’ll likely have physical and neurological exams. Your healthcare professional checks your vision, balance, coordination and reflexes. You also might need: […] Blood tests. These might help find treatable causes of ataxia. […] Imaging studies. An MRI of the brain might help find the possible causes. An MRI can sometimes show shrinkage of the cerebellum and other brain structures in people with ataxia. It also may show other treatable findings, such as a blood clot or benign tumor. […] A spinal tap, also known as lumbar puncture. This test may be helpful if an infection, swelling also called inflammation or certain diseases could be causing ataxia. A needle is inserted into the lower back between two bones to remove a small sample of cerebrospinal fluid. The fluid, which surrounds and protects the brain and spinal cord, is sent to a laboratory for testing. […] Genetic testing. Your healthcare professional might recommend genetic testing to see if a gene change may be causing a condition that leads to ataxia. Gene tests are available for many, but not all, hereditary ataxias.

• #14 Episodic Ataxia – National Ataxia Foundation

  https://www.ataxia.org/ea/

  A neurologist is often the most helpful specialist in diagnosing episodic Ataxia. A thorough neurological examination can determine whether a person has symptoms typical of Episodic Ataxia. […] Mutations in the EA1 and EA2 genes are almost always found in those with early onset of discrete and recurrent attacks of Ataxia. Genetic testing is available on a research basis at several laboratories around the world. […] NOTE: A different mutation in the EA2 gene on chromosome 19 is responsible for Spinocerebellar Ataxia type 6 (SCA6), and symptoms of EA2 and SCA6 can be similar, especially in the early stages of SCA6. […] Some people with EA2 develop a progressive Ataxia in addition to their episodic attacks. DNA testing for SCA6 is available and can accurately detect the genetic abnormality that causes SCA6.

• #15 ATAXP – Overview: Inherited Ataxia Gene Panel, Varies

  https://www.mayocliniclabs.com/test-catalog/Overview/617506

  If testing was performed because of a clinically significant family history, it is often useful to first test an affected family member. Detection of a reportable variant in an affected family member would allow for more informative testing of at-risk individuals. […] Next-generation sequencing may not detect all types of genomic variants. In rare cases, false-negative or false-positive results may occur. The depth of coverage may be variable for some target regions; assay performance below the minimum acceptable criteria or for failed regions will be noted. Given these limitations, negative results do not rule out the diagnosis of a genetic disorder. If a specific clinical disorder is suspected, evaluation by alternative methods can be considered.

• #16 Ataxia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/ataxia/diagnosis-treatment/drc-20355655

  When diagnosing ataxia, your healthcare professional looks for a treatable cause. You’ll likely have physical and neurological exams. Your healthcare professional checks your vision, balance, coordination and reflexes. You also might need: […] Blood tests. These might help find treatable causes of ataxia. […] Imaging studies. An MRI of the brain might help find the possible causes. An MRI can sometimes show shrinkage of the cerebellum and other brain structures in people with ataxia. It also may show other treatable findings, such as a blood clot or benign tumor. […] A spinal tap, also known as lumbar puncture. This test may be helpful if an infection, swelling also called inflammation or certain diseases could be causing ataxia. A needle is inserted into the lower back between two bones to remove a small sample of cerebrospinal fluid. The fluid, which surrounds and protects the brain and spinal cord, is sent to a laboratory for testing. […] Genetic testing. Your healthcare professional might recommend genetic testing to see if a gene change may be causing a condition that leads to ataxia. Gene tests are available for many, but not all, hereditary ataxias.

• #17

  https://www.nhs.uk/conditions/ataxia/diagnosis/

  Currently, tests can detect the mutations responsible for Friedreich’s ataxia, ataxia-telangiectasia and most of the spinocerebellar ataxias. […] Brain scans can be used to check for physical abnormalities in the brain that could be caused by certain types of hereditary ataxia. […] Some of the other tests you may have to help diagnose ataxia and determine how severe it is can include: a lumbar puncture where a sample of cerebrospinal fluid is taken from the base of the spine to check it for infection and any other abnormalities, nerve conduction studies and electromyography (EMG) tests used to assess the electrical activity in nerves and muscles, videofluoroscopy a continuous moving X-ray taken while you swallow different types of food and drink, an electrocardiogram (ECG) an assessment of the electrical activity of the heart, an echocardiogram an ultrasound scan of the heart.

• #18 Ataxia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/ataxia/diagnosis-treatment/drc-20355655

  When diagnosing ataxia, your healthcare professional looks for a treatable cause. You’ll likely have physical and neurological exams. Your healthcare professional checks your vision, balance, coordination and reflexes. You also might need: […] Blood tests. These might help find treatable causes of ataxia. […] Imaging studies. An MRI of the brain might help find the possible causes. An MRI can sometimes show shrinkage of the cerebellum and other brain structures in people with ataxia. It also may show other treatable findings, such as a blood clot or benign tumor. […] A spinal tap, also known as lumbar puncture. This test may be helpful if an infection, swelling also called inflammation or certain diseases could be causing ataxia. A needle is inserted into the lower back between two bones to remove a small sample of cerebrospinal fluid. The fluid, which surrounds and protects the brain and spinal cord, is sent to a laboratory for testing. […] Genetic testing. Your healthcare professional might recommend genetic testing to see if a gene change may be causing a condition that leads to ataxia. Gene tests are available for many, but not all, hereditary ataxias.

• #19 Ataxia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/ataxia/diagnosis-treatment/drc-20355655

  When diagnosing ataxia, your healthcare professional looks for a treatable cause. You’ll likely have physical and neurological exams. Your healthcare professional checks your vision, balance, coordination and reflexes. You also might need: […] Blood tests. These might help find treatable causes of ataxia. […] Imaging studies. An MRI of the brain might help find the possible causes. An MRI can sometimes show shrinkage of the cerebellum and other brain structures in people with ataxia. It also may show other treatable findings, such as a blood clot or benign tumor. […] A spinal tap, also known as lumbar puncture. This test may be helpful if an infection, swelling also called inflammation or certain diseases could be causing ataxia. A needle is inserted into the lower back between two bones to remove a small sample of cerebrospinal fluid. The fluid, which surrounds and protects the brain and spinal cord, is sent to a laboratory for testing. […] Genetic testing. Your healthcare professional might recommend genetic testing to see if a gene change may be causing a condition that leads to ataxia. Gene tests are available for many, but not all, hereditary ataxias.

• #20

  https://www.nhs.uk/conditions/ataxia/diagnosis/

  Currently, tests can detect the mutations responsible for Friedreich’s ataxia, ataxia-telangiectasia and most of the spinocerebellar ataxias. […] Brain scans can be used to check for physical abnormalities in the brain that could be caused by certain types of hereditary ataxia. […] Some of the other tests you may have to help diagnose ataxia and determine how severe it is can include: a lumbar puncture where a sample of cerebrospinal fluid is taken from the base of the spine to check it for infection and any other abnormalities, nerve conduction studies and electromyography (EMG) tests used to assess the electrical activity in nerves and muscles, videofluoroscopy a continuous moving X-ray taken while you swallow different types of food and drink, an electrocardiogram (ECG) an assessment of the electrical activity of the heart, an echocardiogram an ultrasound scan of the heart.

• #21 Diagnosis – Friedreich’s Ataxia (FRDA) – Diseases | Muscular Dystrophy Association

  https://www.mda.org/disease/friedreichs-ataxia/diagnosis

  Friedreich’s ataxia (FRDA) typically has its onset in childhood, between 10 and 15 years of age, but has been diagnosed in people from ages 2 to 50. A later onset is usually associated with a less severe course. […] A neurologist will use several tests to reach a diagnosis of FRDA. Typically, diagnosis begins with a basic physical exam and a careful assessment of personal and family history. […] Perhaps most importantly, cells in the blood provide DNA (genetic material) that can be used for genetic testing. Tests for frataxin mutations are highly reliable and can be used to confirm or exclude a diagnosis of FRDA in almost all cases. The tests also can be used prenatally and to determine carrier status. […] At some point, specialized tests may be ordered to evaluate the function of muscles and nerves. Electromyography (EMG) is done by inserting a needlelike electrode into a muscle and recording the electrical signals it generates during contraction.

• #22

  https://www.nhs.uk/conditions/ataxia/diagnosis/

  Currently, tests can detect the mutations responsible for Friedreich’s ataxia, ataxia-telangiectasia and most of the spinocerebellar ataxias. […] Brain scans can be used to check for physical abnormalities in the brain that could be caused by certain types of hereditary ataxia. […] Some of the other tests you may have to help diagnose ataxia and determine how severe it is can include: a lumbar puncture where a sample of cerebrospinal fluid is taken from the base of the spine to check it for infection and any other abnormalities, nerve conduction studies and electromyography (EMG) tests used to assess the electrical activity in nerves and muscles, videofluoroscopy a continuous moving X-ray taken while you swallow different types of food and drink, an electrocardiogram (ECG) an assessment of the electrical activity of the heart, an echocardiogram an ultrasound scan of the heart.

• #23

  https://www.nhs.uk/conditions/ataxia/diagnosis/

  Currently, tests can detect the mutations responsible for Friedreich’s ataxia, ataxia-telangiectasia and most of the spinocerebellar ataxias. […] Brain scans can be used to check for physical abnormalities in the brain that could be caused by certain types of hereditary ataxia. […] Some of the other tests you may have to help diagnose ataxia and determine how severe it is can include: a lumbar puncture where a sample of cerebrospinal fluid is taken from the base of the spine to check it for infection and any other abnormalities, nerve conduction studies and electromyography (EMG) tests used to assess the electrical activity in nerves and muscles, videofluoroscopy a continuous moving X-ray taken while you swallow different types of food and drink, an electrocardiogram (ECG) an assessment of the electrical activity of the heart, an echocardiogram an ultrasound scan of the heart.

• #24

  https://www.nhs.uk/conditions/ataxia/diagnosis/

  Currently, tests can detect the mutations responsible for Friedreich’s ataxia, ataxia-telangiectasia and most of the spinocerebellar ataxias. […] Brain scans can be used to check for physical abnormalities in the brain that could be caused by certain types of hereditary ataxia. […] Some of the other tests you may have to help diagnose ataxia and determine how severe it is can include: a lumbar puncture where a sample of cerebrospinal fluid is taken from the base of the spine to check it for infection and any other abnormalities, nerve conduction studies and electromyography (EMG) tests used to assess the electrical activity in nerves and muscles, videofluoroscopy a continuous moving X-ray taken while you swallow different types of food and drink, an electrocardiogram (ECG) an assessment of the electrical activity of the heart, an echocardiogram an ultrasound scan of the heart.

• #25 Ataxia – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/ataxia/symptoms-causes/syc-20355652

  Lasting ataxia usually results from damage to the part of the brain that controls muscle coordination, known as the cerebellum. […] Ataxia usually results from damage to the part of the brain called the cerebellum or its connections. The cerebellum controls muscle coordination. […] Treatment for ataxia depends on the cause. […] Ataxia is caused by damage to the part of the brain called the cerebellum or its connections. The cerebellum is located at the base of the brain and connects to the brainstem. The cerebellum helps control balance, eye movements, swallowing and speech. […] There are three major groups of ataxia causes: acquired, degenerative and hereditary. […] Ataxia is a potential side effect of certain medicines. […] Different gene changes cause different types of ataxia. Most types get worse over time. Each type causes poor coordination but also has other specific symptoms. […] The first symptom of Friedreich ataxia often is trouble walking. […] Early treatment of heart conditions can improve quality of life and survival.

• #26 Friedreich’s ataxia diagnostic process and criteria | Friedreich’s Ataxia NewsEnvelope icon

  https://friedreichsataxianews.com/professional/friedreichs-ataxia-diagnostic-process-criteria/

  A diagnosis of Friedreich’s ataxia (FA) is largely reached through a comprehensive physical and neurological examination, supported by MRI, laboratory workups, and occasionally electrodiagnostic tests. A definitive diagnosis can be reached through genetic testing. […] Genetic testing is the definitive way to diagnose FA and rule out differential diagnoses, supported by findings from a comprehensive neurological workup. […] Genetic testing provides the final FA diagnosis. The GAA repeat expansion, found in at least one allele of the FXN gene of all FA patients, cannot be detected by next generation sequencing technology, but commercial testing panels are available for direct sizing of the GAA repeat. Patients with ataxia who have only one expanded allele should have the other allele sequenced for point mutations.

• #27 Friedreich’s ataxia diagnostic process and criteria | Friedreich’s Ataxia NewsEnvelope icon

  https://friedreichsataxianews.com/professional/friedreichs-ataxia-diagnostic-process-criteria/

  A diagnosis of Friedreich’s ataxia (FA) is largely reached through a comprehensive physical and neurological examination, supported by MRI, laboratory workups, and occasionally electrodiagnostic tests. A definitive diagnosis can be reached through genetic testing. […] Genetic testing is the definitive way to diagnose FA and rule out differential diagnoses, supported by findings from a comprehensive neurological workup. […] Genetic testing provides the final FA diagnosis. The GAA repeat expansion, found in at least one allele of the FXN gene of all FA patients, cannot be detected by next generation sequencing technology, but commercial testing panels are available for direct sizing of the GAA repeat. Patients with ataxia who have only one expanded allele should have the other allele sequenced for point mutations.

• #28 Friedreich’s ataxia diagnostic process and criteria | Friedreich’s Ataxia NewsEnvelope icon

  https://friedreichsataxianews.com/professional/friedreichs-ataxia-diagnostic-process-criteria/

  In patients of typical age of onset with a slowly progressive ataxia with symmetric findings, genetic testing can be the initial test. In others, further testing can be included early in the evaluation. […] Brain and spinal cord MRIs are usually normal at the time of diagnosis, without overt cerebellar atrophy despite ataxia. An MRI can also rule out other causes of ataxia. […] Electrodiagnostic testing indicates sensory axonal neuropathy with loss or greatly diminished sensory nerve action potential amplitudes. […] Blood tests may also be used to rule out differential diagnoses. Serum muscle enzymes are found to be normal in FA, as are vitamin E levels.

• #29 Friedreich’s ataxia diagnostic process and criteria | Friedreich’s Ataxia NewsEnvelope icon

  https://friedreichsataxianews.com/professional/friedreichs-ataxia-diagnostic-process-criteria/

  In patients of typical age of onset with a slowly progressive ataxia with symmetric findings, genetic testing can be the initial test. In others, further testing can be included early in the evaluation. […] Brain and spinal cord MRIs are usually normal at the time of diagnosis, without overt cerebellar atrophy despite ataxia. An MRI can also rule out other causes of ataxia. […] Electrodiagnostic testing indicates sensory axonal neuropathy with loss or greatly diminished sensory nerve action potential amplitudes. […] Blood tests may also be used to rule out differential diagnoses. Serum muscle enzymes are found to be normal in FA, as are vitamin E levels.

• #30 Ataxia-telangiectasia (A-T) | Immune Deficiency Foundation

  https://primaryimmune.org/understanding-primary-immunodeficiency/types-of-pi/ataxia-telangiectasia-t

  The diagnosis of A-T is based on detection of the features of the syndrome and supported by the following laboratory tests: […] Elevated alpha-fetoprotein in the blood. […] Variant (abnormal DNA sequencing) in the A-T gene (ATM). […] Increased cell death or chromosomal breakage after the exposure of blood cells to X-rays in the laboratory. […] Absence of the ATM protein on Western blot. […] Early diagnosis is important to allow for optimal management of the affected child, as well as genetic counseling for the parents and extended family members.

• #31 Ataxia-telangiectasia (A-T) | Immune Deficiency Foundation

  https://primaryimmune.org/understanding-primary-immunodeficiency/types-of-pi/ataxia-telangiectasia-t

  The diagnosis of A-T is based on detection of the features of the syndrome and supported by the following laboratory tests: […] Elevated alpha-fetoprotein in the blood. […] Variant (abnormal DNA sequencing) in the A-T gene (ATM). […] Increased cell death or chromosomal breakage after the exposure of blood cells to X-rays in the laboratory. […] Absence of the ATM protein on Western blot. […] Early diagnosis is important to allow for optimal management of the affected child, as well as genetic counseling for the parents and extended family members.

• #32 Episodic Ataxia: What It Is, Types, Diagnosis & Treatment

  https://my.clevelandclinic.org/health/diseases/22794-episodic-ataxia

  Episodic ataxia diagnosis can be complex. […] Your healthcare provider does a physical examination and talks with you about your symptoms. They also ask about ataxia in any family members. […] You may meet with a brain and nervous system specialist (neurologist). They may do more tests to confirm an episodic ataxia diagnosis. […] Your healthcare provider may recommend tests to look at your brain and nerves. These tests include: CT scan, Electromyogram, MRI. […] Your provider may also recommend genetic testing. They look for genetic mutations associated with episodic ataxia.

• #33 Episodic Ataxia: What It Is, Types, Diagnosis & Treatment

  https://my.clevelandclinic.org/health/diseases/22794-episodic-ataxia

  Episodic ataxia diagnosis can be complex. […] Your healthcare provider does a physical examination and talks with you about your symptoms. They also ask about ataxia in any family members. […] You may meet with a brain and nervous system specialist (neurologist). They may do more tests to confirm an episodic ataxia diagnosis. […] Your healthcare provider may recommend tests to look at your brain and nerves. These tests include: CT scan, Electromyogram, MRI. […] Your provider may also recommend genetic testing. They look for genetic mutations associated with episodic ataxia.

• #34 Episodic Ataxia: What It Is, Types, Diagnosis & Treatment

  https://my.clevelandclinic.org/health/diseases/22794-episodic-ataxia

  Episodic ataxia diagnosis can be complex. […] Your healthcare provider does a physical examination and talks with you about your symptoms. They also ask about ataxia in any family members. […] You may meet with a brain and nervous system specialist (neurologist). They may do more tests to confirm an episodic ataxia diagnosis. […] Your healthcare provider may recommend tests to look at your brain and nerves. These tests include: CT scan, Electromyogram, MRI. […] Your provider may also recommend genetic testing. They look for genetic mutations associated with episodic ataxia.

• #35 Autoimmune Cerebellar Ataxia Panel | Test Detail | Quest Diagnostics

  https://testdirectory.questdiagnostics.com/test/test-detail/90133/autoimmune-cerebellar-ataxia-panel?p=r&cc=MASTER

  Autoimmune Cerebellar Ataxia Panel – Cerebellar ataxia may occur as a result of autoantibodies to cerebellar targets. These may include antibodies to the Purkinje cell antigen Yo, the voltage gated calcium channel (VGCC) or tissue transglutaminase (tTG). Glutin ataxia is associated with widespread tissue transglutaminase (tTG) IgA deposition around vessels in the cerebellum, pons, and medulla. […] Overnight fasting is preferred […] Immunoassay (IA) • Immunofluorescence Assay (IFA) • Immunoturbidometry • Radiobinding Assay (RBA) […] Reference ranges are provided as general guidance only. To interpret test results use the reference range in the laboratory report.

• #36 Autoimmune Cerebellar Ataxia Panel | Test Detail | Quest Diagnostics

  https://testdirectory.questdiagnostics.com/test/test-detail/90133/autoimmune-cerebellar-ataxia-panel?p=r&cc=MASTER

  Autoimmune Cerebellar Ataxia Panel – Cerebellar ataxia may occur as a result of autoantibodies to cerebellar targets. These may include antibodies to the Purkinje cell antigen Yo, the voltage gated calcium channel (VGCC) or tissue transglutaminase (tTG). Glutin ataxia is associated with widespread tissue transglutaminase (tTG) IgA deposition around vessels in the cerebellum, pons, and medulla. […] Overnight fasting is preferred […] Immunoassay (IA) • Immunofluorescence Assay (IFA) • Immunoturbidometry • Radiobinding Assay (RBA) […] Reference ranges are provided as general guidance only. To interpret test results use the reference range in the laboratory report.

• #37 Diagnosis and management of progressive ataxia in adults | Practical Neurology

  https://pn.bmj.com/content/19/3/196

  Progressive ataxia in adults can be difficult to diagnose, owing to its heterogeneity and the rarity of individual causes. […] This paper provides suggested diagnostic pathways for the general neurologist, based on Ataxia UKs guidelines for professionals. […] MR brain scanning can provide diagnostic clues, as well as identify structural causes such as tumours and multiple sclerosis. […] Advances in molecular genetics, including the wider and cheaper availability of next-generation sequencing, have enabled clinicians to identify many more cases with a genetic cause. […] Finally, autoimmunity is probably an under-recognised cause of progressive ataxia: as well as patients with antigliadin antibodies there are smaller numbers with various antibodies, including some associated with cancer.

• #38 Topic 1.5. Early diagnosis of Friedreich ataxia – Clinical Management Guidelines for Friedreich Ataxia

  https://frdaguidelines.org/1-5/

  There is concern that there is excessive delay in confirmation of the diagnosis of FRDA after symptom onset. […] The path to diagnosis for these patients likely varies by geography and by presenting signs or symptoms. […] Thus, pediatricians, orthopedic surgeons and pediatric neurologists need to be familiar with FRDA as a possible diagnosis in children who have motor difficulties or spinal deformities. […] The median time to diagnosis was 3 years with an inter-quartile range of 1-7 years. […] Those with non-neurological onset had greater delay in diagnosis than those with neurological onset (median of 5 years compared to 3 years). […] The patients had often seen several health care providers before the correct diagnosis was made, with the common misdiagnoses being Charcot-Marie-Tooth disease (CMT), cerebral palsy, multiple sclerosis, cerebellar abnormality and inner ear disease.

• #39 Topic 1.5. Early diagnosis of Friedreich ataxia – Clinical Management Guidelines for Friedreich Ataxia

  https://frdaguidelines.org/1-5/

  There is concern that there is excessive delay in confirmation of the diagnosis of FRDA after symptom onset. […] The path to diagnosis for these patients likely varies by geography and by presenting signs or symptoms. […] Thus, pediatricians, orthopedic surgeons and pediatric neurologists need to be familiar with FRDA as a possible diagnosis in children who have motor difficulties or spinal deformities. […] The median time to diagnosis was 3 years with an inter-quartile range of 1-7 years. […] Those with non-neurological onset had greater delay in diagnosis than those with neurological onset (median of 5 years compared to 3 years). […] The patients had often seen several health care providers before the correct diagnosis was made, with the common misdiagnoses being Charcot-Marie-Tooth disease (CMT), cerebral palsy, multiple sclerosis, cerebellar abnormality and inner ear disease.

• #40 Guidelines on the diagnosis and management of the progressive ataxias | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1013-9

  The production of this third edition of the guidelines has identified persisting gaps in the management of patients with ataxia. […] Despite advances in diagnostic testing, many patients with ataxia are still not given a specific diagnosis of the underlying cause of their ataxias. […] The availability of gene panels, and increasingly exome and whole genome sequencing, may offer greater opportunities for the accurate (genetic) characterisation of ataxic subjects and families. […] The determination of the pathogenicity of variants of unknown significance (VUS) can be time-consuming and expensive. […] The need for further research is thus of paramount importance.

• #41 Guidelines on the diagnosis and management of the progressive ataxias | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1013-9

  The production of this third edition of the guidelines has identified persisting gaps in the management of patients with ataxia. […] Despite advances in diagnostic testing, many patients with ataxia are still not given a specific diagnosis of the underlying cause of their ataxias. […] The availability of gene panels, and increasingly exome and whole genome sequencing, may offer greater opportunities for the accurate (genetic) characterisation of ataxic subjects and families. […] The determination of the pathogenicity of variants of unknown significance (VUS) can be time-consuming and expensive. […] The need for further research is thus of paramount importance.

• #42 What is Ataxia? – National Ataxia Foundation

  https://www.ataxia.org/what-is-ataxia/

  Ataxia treatment involves a combination of medication to treat symptoms and therapy to improve quality of life, but there is no magic cure for the disease. […] The goal of Ataxia treatment is to improve the quality of life and requires an individualized approach. It is important to work closely with a neurologist to develop a plan to address symptoms.

• #43 Guidelines on the diagnosis and management of the progressive ataxias | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1013-9

  The ataxias can present in a variety of ways, so an accurate and comprehensive history, together with clinical examination and relevant investigations are essential for efficient diagnosis and management. […] Diagnostic investigations are numerous and range from simple blood tests to next generation sequencing (NGS) panels, nerve conduction studies, lumbar puncture, and neuroimaging. […] The principles governing the management of spasticity and bladder symptoms could, for example, be equally well apply to patients with multiple sclerosis. […] A small number of conditions presenting with ataxia are amenable to treatment, so diagnosing these is of great importance. […] Interventions by allied health professionals play a crucial role in the management of people with progressive ataxias.

• #44 What is Ataxia? – National Ataxia Foundation

  https://www.ataxia.org/what-is-ataxia/

  Ataxia treatment involves a combination of medication to treat symptoms and therapy to improve quality of life, but there is no magic cure for the disease. […] The goal of Ataxia treatment is to improve the quality of life and requires an individualized approach. It is important to work closely with a neurologist to develop a plan to address symptoms.

• #45 Ataxia | Baylor Medicine

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

  The diagnosis of ataxia is made after a careful, detailed clinical examination by a neurologist. Once the presence of ataxia has been determined, the cause is determined based on the time course and other neurological features (described below). Several laboratory tests can help aid diagnosis. MRI and spinal fluid analysis can also be helpful. In many cases, genetic testing is required. […] Genetic ataxias do not have any definitive treatments except for Friedreichs ataxia. In 2023, the US FDA approved omaveloxolone (Skyclarys), the first ataxia-specific treatment for Friedrich’s ataxia. The mechanism of omaveloxolone is to reduce inflammation through activation of the NrF2 transcription factor and downstream pathway, overall to improve mitochondrial function in Friedrich’s ataxia. The side effects are well tolerated, with the requirement of monitoring liver function test and lipid profile test every 3 months.

• #46 Cerebellar Ataxia – Child Neurology Foundation

  https://www.childneurologyfoundation.org/disorder/cerebellar-ataxia/

  Finally, ataxia can be caused by problems in the cerebellum. This structure is in the back of the brain. Its found near the base of the skull. The cerebellum processes information from: […] The motor command centers of the brain […] The eyes […] The inner ear […] The sensory nerves […] This information allows it to fine-tune motor movements. That way, they are accurate and appropriate. […] Many genetic disorders affect cerebellar function. Sometimes these worsen over time. […] Chronic cerebellar ataxia is long-lasting. Progressive cerebellar ataxia worsens over time. […] Some children have developmental brain differences. These differences affect the cerebellum. They can cause ataxia. […] Several genetic disorders can cause congenital ataxia. They can cause progressive ataxia too. […] Diagnosing a specific genetic ataxia is helpful. It can predict if symptoms will be stable. It can also predict if they will worsen. […] A specific diagnosis is important for: […] Clinical trials of new medications […] Potential gene therapies in the future.

• #47 What is Ataxia? – National Ataxia Foundation

  https://www.ataxia.org/what-is-ataxia/

  Ataxia is diagnosed using a combination of strategies that may include medical history, family history, and a complete neurological evaluation. Various blood tests may be performed to rule out other disorders. Genetic blood tests are available for many types of hereditary Ataxia. […] Taking an active role and advocating for patient needs is important when seeking an Ataxia diagnosis. Begin with a discussion with a primary care physician. However, some physicians may not be familiar with Ataxia because it is a rare disease. If Ataxia is suspected, the primary care physician will likely make a referral to a neurologist. Neurologists will have the expertise needed to confirm a diagnosis and determine the type of Ataxia. NAF maintains a list of neurologists that are familiar with Ataxia. This list is a good starting place to look for neurologists that have experience working with Ataxia patients.

• #48 Onset features and time to diagnosis in Friedreich’s Ataxia | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-01475-9

  In the genetic era, presentation with non-neurological features or in the adulthood still leads to a significant diagnostic delay in FRDA. […] The present work adds to the awareness of FRDA in adult patients and in patients with extraordinary symptoms at disease onset. Increasing awareness accelerates diagnosis and may pave the way for a prompt access to therapies in the future.

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