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Newly Diagnosed Ataxia PowerPoint Presentation

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Description : Check out this medical PowerPoint presentation titled "Newly Diagnosed Ataxia" by Pravin Khemani, MD, FAAN.
This medical PowerPoint presentation talks about Ataxia, a neurological condition that affects a persons ability to coordinate their movements.
Ataxia is caused by damage or degeneration to the cerebellum or other parts of the nervous system that control movement. Ataxia can affect a persons ability to walk, talk, eat, and perform other daily activities.
Symptoms of ataxia can include difficulty with balance and coordination, slurred speech, tremors, difficulty with fine motor skills, and abnormal eye movements. The severity of symptoms can vary depending on the underlying cause of ataxia and the extent of damage to the nervous system.
Ataxia can be caused by a wide range of conditions, including genetic disorders, infections, tumors, stroke, and traumatic brain injury. Treatment for ataxia depends on the underlying cause and may include medication, physical therapy, speech therapy, and assistive devices to help with mobility and daily activities.

Tags : Ataxia, neurological condition, Neurology PowerPoint presentation

Published on : Mar 21, 2023 | Views : 956 | Downloads : 0

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Newly Diagnosed Ataxia Pravin Khemani, MD, FAAN Swedish Neuroscience Institute Seattle, WA
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DISCLAIMER
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PRESENTER DISCLOSURES Pravin Khemani, MD, FAAN The following personal financial relationships with commercial interests relevant to his presentation existed during the past 12 months: PI for Biohaven ataxia trial
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Objectives Symptoms Diagnosis and Causes of Ataxia Multidisciplinary treatment Research
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Symptoms of cerebellar ataxia Ataxia is a combination of symptoms due to progressive deterioration of the cerebellum and its connections: Fogel & Pearlman, NATURE CLINICAL PRACTICE NEUROLOGY, 2006
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Symptoms of cerebellar ataxia Cerebellar Motor symptoms Vestibular (relating to inner ear) symptoms Cognitive and psychiatric symptoms Manto, et. al. Cerebellar Ataxias-an update, Curr Opin Neurol, 2020
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Symptoms of cerebellar ataxia Motor Symptoms: Impaired walking(“walking like a drunk”) Poor balance (falls) Clumsy hands Slurred speech Stiffness and slowness Swallowing difficulty Subramony & Xia ‘Ataxic and Cerebellar Disorders’. Bradley’s Neurology in Clinical Practice. 2016. 7th Ed
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Symptoms of cerebellar ataxia Vestibular Symptoms: Dizziness, vertigo Poor balance (falls) Visual impairment Blurred vision, double vision, “jumping’ vision Subramony & Xia ‘Ataxic and Cerebellar Disorders’. Bradley’s Neurology in Clinical Practice. 2016. 7th Ed
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Symptoms of cerebellar ataxia Cerebellar Cognitive Affective Syndrome: Emotional problems Mood dysregulation Impulsivity Disinhibition Apathy Anger and Irritability Cognitive impairment Planning and sequencing Language Memory Reasoning Schmahmann & Sherman, The Cerebellar Cognitive Affective Syndrome, Brain, 1998 Adamaszek, et. al, Consensus Paper: Cerebellum & Emotion, Cerebellum, 2017
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Other clinical features Depends on the type of ataxia Ophthalmological Musculoskeletal Neuropathy Pain Vital organs Cancers
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Causes of Cerebellar Ataxia Neurodegenerative ataxias Genetic Sporadic Acquired ataxias Strokes Infections Brain Tumors Autoimmune (related to known antibodies) Cancers Vitamin Deficiencies Drugs Toxins (Alcohol) Khemani, P: https://practicalneurology.com/articles/2013-mar-apr/overview-of-adult-onset-cerebellar-ataxia, 2013
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Deterioration of Cerebellum and its connections Progressive ataxic symptoms Predominantly cause neurological symptoms Affect primarily the brain and its connections to other organs
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SCA: spinocerebellar ataxias: 1-8, 10-23, 25-31…48! EA: episodic ataxias DRPLA: Dentatorubropallidoluysian atrophy FA: Friedrich’ ataxia: ATX: Ataxia Telangiectasia FXTAS: Fragile X Tremor Ataxia Syndrome MSA-C: Multiple System Atrophy-Cerebellar Ashizawa & Xia. Continuum, 2016 Bird TD, Hereditary Ataxia Overview. [Updated 2018 Sep 27]. https://www.ncbi.nlm.nih.gov/books/NBK1138/ Manto, et. al. Cerebellar Ataxias-an update, Curr Opin Neurol, 2020 Genis, et. al. Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48), Neurology, 2018 Beaudin, et. al, The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force, The Cerebellum (2019)
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Diagnosis of Cerebellar Ataxia Neurologist (who has experience with the ataxias) Thorough History and Examination Known family history of ataxia Genetic testing No known family history Testing informed by the clinical course
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Diagnostic Tests for Cerebellar Ataxia Ramirez-Zamora, et. al. Treatable causes of cerebellar ataxia, Mvt. disorders, 2015
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Idiopathic or Unknown ataxia Upto 20% cerebellar ataxias may not have a known cause even after extensive testing: ? Genetic ? Autoimmune ?Sporadic: Related to rare nongenetic neurodegenerative disorders Progressive supranuclear palsy Hadjivassiliou, et. al., Causes of Progressive Cerebellar Ataxia: Prospective Evaluation of 1500 Patients, Journal Neurol Neurosurg Psychiatry, 2017
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Multidisciplinary Treatment of Cerebellar Ataxias All ataxias are treatable A few cerebellar ataxias have specific drug treatments Knowing cause of ataxia informs treatment Treatment is tailored to individual needs Multidisciplinary team approach Gandini, et. al., The neurological update: Therapies for cerebellar ataxias in 2020, J Neurol, 2020
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Treatment of Cerebellar Ataxias Specific treatment for ataxias causing deficiency of vital chemicals Several Off-label drugs To treat ataxia and its symptoms Looking forward New drugs to slow the progression Genetic treatment for specific mutations Stem cell treatment Transcranial Magnetic stimulation and transcranial direct current stimulation Perlman, S, Update on the Treatment of Ataxia: Medication and Emerging Therapies, Neurotherapeutics, 2020 Gandini, et. al., The neurological update: Therapies for cerebellar ataxias in 2020, J Neurol, 2020
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Case Study 25-year-old man Mild gait and balance problems started in early 20s No family history of ataxia 1/4 children Blood tests, spinal fluid testing was normal MRI spinal cord showed possible atrophy Genetic testing revealed Friedreich Ataxia (FA)
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FA Cardiomyopathy Visual impairment Endocrine problems Musculoskeletal problems Neuropathy Weakness Cognitive impairment OMIM # 229300
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FA Neurologist Cardiologist Endocrinologist or Internal Medicine doctor Ophthalmologist Neurorehabilitation Genetic Counselor Social Worker Caregiver and family support
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Case Two 55-year-old woman Concerns: progressive walking and balance problems Started in early 50s No family history of ataxia Genetic tests were normal All other tests were completely normal
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Case Two Over the next 4 years Progressive slurred speech, balance problems, falls Urinary frequency, urgency and incontinence Light-headedness Slowness of Movements Acting out of dreams Completely dependent on husband for most tasks due to imbalance
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Case Two Extensive testing, including genetic tests were normal Specialized neuroimaging showed abnormalities in basal ganglia structures Diagnosed with Multiple System Atrophy-Cerebellar subtype (MSA-C) Palma, et. al., Diagnosis of multiple system atrophy, Autonomic Neuroscience: Basic & clinical, 2017
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MSA-C Progressive ataxia and parkinsonism Bladder and bowel problems Light-headedness Speech and swallowing problems Sleep disturbance Respiratory issues Significant care-giver stress
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MSA-C Neurologist Urologist Internal Medicine/Cardiologist Gastroenterologist Otolaryngologist Neurorehabilitation Pulmonologist Sleep specialist Social worker Advance care planning
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Multidisciplinary team 22-Mar-23
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Multidisciplinary team 22-Mar-23
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Multidisciplinary Team 22-Mar-23
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Multidisciplinary team 22-Mar-23
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Multidisciplinary team 22-Mar-23 https://www.variantyx.com https://www.dnavisit.com
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Multidisciplinary team 22-Mar-23
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Multidisciplinary team 22-Mar-23
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Multidisciplinary team 22-Mar-23 Schatton, et. al. Individualized exergame training improves postural control in advanced degenerative spinocerebellar ataxia: A rater-blinded, intra-individually controlled trial, Parkinsonism & Related Disorders, 2017
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Multidisciplinary team 22-Mar-23
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Multidisciplinary team 22-Mar-23
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22-Mar-23 Multidisciplinary team Patient and Family
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Summary NAF & Local support groups empower patients and families with ataxia Knowledge is power! Ataxia is treatable Find neurologists knowledgeable about ataxia or ataxia centers Multidisciplinary treatment Specialized Customized care Participation in research is key to advancing treatments and discovering cures for cerebellar ataxias