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ATAXIA, 7 Tips Everyone Should Know

ATAXIA, 7 Tips Everyone Should Know. Presented by F. Bruce Watkins, MD. WELCOME. ATAXIAconnect………… helping to find a cure presents ATAXIA 101…..the course (3 expert presentations). Summary. Definition/Description

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ATAXIA, 7 Tips Everyone Should Know

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  1. ATAXIA, 7 Tips Everyone Should Know Presented by F. Bruce Watkins, MD

  2. WELCOME ATAXIAconnect………… helping to find a cure presents ATAXIA 101…..the course (3 expert presentations)

  3. Summary • Definition/Description • Demographics • Types • Hereditary • Non Hereditary or • Cerebellar, Sensory, Vestibular • Mechanism • Work Up • Therapy • Treatment Strategies

  4. Definition/Description • ATAXIA is a group of symptoms, many causes • Refers to disorders with uncoordinated motor behavior • Motor is clumsy, disjointed, jerky • May affect any part of voluntary muscles • Causes are hereditary and non hereditary

  5. Demographics/Statistics • The prevalence of ataxia varies in different countries • An estimated 150,000 Americans are affected by heredity or non hereditary ataxia. • Hereditary causes are less frequent • Ataxia can strike anyone at any time regardless of age, gender, or race.

  6. Mechanism • Peripheral symptoms due to various causes, central nervous system or systemic illnesses • Genetic ataxia usually causes the body to make abnormal proteins causing over or under sensitivity • Ataxia is usually caused by damage to the cerebellum or its inputs or outputs

  7. Types of ATAXIA • Causes • Hereditary • Non Hereditary • Locations • Cerebellar • Sensory • Vestibular

  8. VITAMIN Dacquired mnemonic • Vascular, Vitamin, • Infections , Iatrogenic • Trauma, Thyroid, Toxins • Autoimmune, Acute, Atrophy, Alcoholism, Antibodies • Metabolic, Mass , MS, Multisystem disorders, MSA • Immune , Inflammation • Neoplasm, Neuropathy • Degenerative, Damage, Diet , Drugs

  9. Genetics...AD or AR or X • AR(50%)……Freidreich’s A-T, Wilson’s Dz, Congenital Cerebellar • AD (25%): SCA(>28), Episodic (EA1-EA6) • Fragile X (FXTAS): tremor, usually male, usually >50yo • Vitamin E deficiency • Metabolic Disorders Testing: diagnostic, predictive carrier, prenatal Pre-implantation newborn screening

  10. Generic Work Up • Chief Complaint • History……… personal, family, onset, progress • Symptoms • Physical Exam • Labs • Blood • Urine • CSF • Imaging • MRI • CT

  11. Symptoms • Primarily loss of coordination • Gait, walking • Fine motor movement • Speech and swallowing • Visual abnormalities • Increased fatigue • Cognitive and mood problems

  12. Labs • Blood: CBC, Toxins,Vits • Urine: mercury, copper • CSF • Imaging: mass,atrophy • MRI: usually Brain • CT: usually body • Electrophysiology: nerve dysfunction • EMG • Conduction velocity

  13. Treatment Strategies • Determine Which Type of Ataxia is Present • Find the Underlying Cause of Your Case • Get Strong • Get Support From Your Friends and Loved Ones

  14. When to see your doctor • Lose balance • Lose muscle coordination in a hand, arm or leg • Have difficulty walking • Slur your speech • Have difficulty swallowing

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