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Ataxia seminar

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Ataxia seminar

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Ataxia seminar

  1. 1. ATAXIA BY-Dr. Shyam Kartikey Dwivedi Guide-Dr. Meenakshi Girish
  2. 2. DEFINING ATAXIA • Ataxia is a symptom, not a specific disease or diagnosis. • Ataxia means poor coordination of movement. • The term ataxia is most often used to describe walking that is uncoordinated and unsteady. Ataxia can affect coordination of fingers, hands, arms, speech (dysarthria) and eye movements (nystagmus).
  3. 3. MECHANISM OF DEVELOPING ATAXIA • ANATOMY OF CEREBELLUM - LOBES - AFFERENTS - EFFERENTS - FUNCTIONS
  4. 4. External features • Two cerebellar hemispheres . • Median vermis. • Two surfaces ----superior and inferior • 3 fissures: – fissura prima, – horizontal fissure and – posterolateral fissure • 3 lobes in each hemisphere – anterior , – posterior and – flocculonodular.
  5. 5. Schematic representation of the major anatomical subdivisions of the cerebellum.
  6. 6. ANATOMICAL FUNCTIONAL AREAS OF THE CEREBELLUM There are 3 lobe:- Anterior lobe Posterior lobe Flocculonodular lobe
  7. 7. Longitudinal functional division of anterior & posterior lobes Vermis – control axial body, neck ,shoulder & hip Intermediate zone- controls the contraction of the distal portion of upper & lower limb especially hand, finger, feet & toes Lateral zone- controls the overall planning of sequential motor movement
  8. 8. • Abnormality in vermis of cerebellum, then child cannot sit still but constantly move the body to & fro & bob the head. • abnormality in cerebellar hemisphere causes tendency to veer in the direction of affected side with dysmetria & hypotonia in the ipsilateral limbs.
  9. 9. Cardinal features - Cerebellar pathology – Stance and gait – Poor regulation and coordination of skilled movements (Dysmetria and dysdiadokinesia) – Eye movement disturbances – Altered Muscle tone (Hypotonia) – Speech (Dysarthria)
  10. 10. Core Symptoms • Difficulty with balance of gait • Clumsiness of hands • Dysarthria • Gaze problems
  11. 11. Manifestations- Stance and gait –Wide based stance & Gait –Gait- staggering, irregular steps, lateral veering. –Cerebellar gait -visible or more prominent –Sudden turn, Abrupt stops , Tandem walking
  12. 12. • Impairment of joint position sense resulting from interruption of afferent nerve fibers in the peripheral nerves, posterior roots, or posterior columns of the spinal cord. The effect of these lesions is to deprive the patients of the knowledge of the position of their limbs
  13. 13. –Ataxic sensory gait • brisk leg movements • legs placed far apart to correct instability • steps of variable length • need for carefully watching the ground. • +ve Romberg's sign .
  14. 14. • Most of the autosomal recessive and dominant ataxias and with a known genetic defect are characterized by the coexistence of cerebellar and sensory ataxia
  15. 15. Limb coordination • Asynergia- movements are broken into isolated subsequent steps , lack easiness/ smoothness • Dysdiadochokinesia- impaired rapidly alterating movement • Dysmetria. there is an abnormal excursion in movements and errors in reaching a precise target
  16. 16. • Tests –finger-to nose,the finger-chase tests for the upper limbs –heel-to-knee and heel-to-tibia tests for the lower limbs.
  17. 17. Muscle tone • Hypotonia is a typical cerebellar sign. • Wider excursion of hands on shaking the arms. In ataxic patient, the hypotonia is not a constant clinical sign.
  18. 18. Speech- Dysarthria • Altered articulation of words • Abnormal fluency of speech. • Scanning Dysarthria • Slurring
  19. 19. • Disorder may be a simple slowing of speech or may manifest as a slurring and scanning Dysarthria called because the words are broken into syllables. • As the disease progresses, both slurring and slowness may occur and words might become difficult to understand
  20. 20. Scenario • 2 yr girl • Acute onset of not able to walk since morning • No fever • No erythema, no pain with palpation of extremities • H/o normal development, walking for 8 months. • Awake and alert, but fussy
  21. 21. Refusal to Walk (or abnormal gait/limp) • Infections – septic arthritis, osteomyelitis, discitis, myositis • Inflammatory – transient synovitis • H/o Trauma • Bony deformity/problem – slipped epiphysis, hip dysplasia, asceptic necrosis (legg-calve-perthes), vaso-occlusive crisis, osteochondrosis, tumors.
  22. 22. • Abdominal pain – appendicitis, PID, abscess • Neurologic – weakness (muscular dystrophy, NMJ, GBS, TM), ataxia, infections – meningitis, spinal abscess. • Psychogenic - conversion
  23. 23. History • When was walking last normal; onset of symptoms? • Any trauma? • Vitals? Fever? • Any LOC or abnormal movements? • nausea/vertigo/posterior fossa symptoms? • Why is walking altered? - pain, weakness, numbness, imbalance, can't say?
  24. 24. Neurologic Exam – walk refusal/abnormal walk • CN – pupils, eye movements (abnormal movements, opsoclonus), CN 8 (ear exam, tinnitus, hearing loss) – peripheral vestibular neuropathy/labrynthitis • Motor – strength – weakness –> myopathy/NMJ/peripheral nerve/UMN • Reflexes – absent? -->GBS, increased?->UMN
  25. 25. • Sensory – uncommon reason in kids – B12, tabes dorsalis, diabetic peripheral neuropathy • Cerebellar – Rapid alternating movements , Finger-nose-finger, heel-knee-shin, other rhythmic movements-clapping, also listen to speech. • Gait – romberg, tandem – think of different abnormal gait types.
  26. 26. ACUTE EPISODIC CHRONIC ATAXIA
  27. 27. Causes of ataxia:ACUTE Drug ingestion(antiepileptic,antihistamine) acute postinfectious cerebellitis(varicella) Brain tumor Neuroblastoma Head-trauma Vertebrobasilar dissection/stroke ADEM Opsoclonus-Myoclonus-Ataxia Acute Cerebellar Ataxia
  28. 28. – GBS – Miller Fisher syndrome(ataxia,ophthalmoplegia,areflexia) – Tick paralysis – Infections – encephalitis, cerebellar abscess, acute labrynthitis – Toxicities – alcohol, lead – Conversion reaction
  29. 29. Causes of Ataxia : EPISODIC • Basilar artery migraine (benign paroxysmal vertigo) • Epileptic ataxia(pseudoataxia) • Dominant paroxysmal ataxia( episodic ataxia type-1 & type-2
  30. 30. Causes of Ataxia : EPISODIC • Metabolic: – Hypoglycemia – Hyperammonemia – Organic acid disorders , Maple syrup – Hartnup ,hyperpyruvic acidemia – Refsum’s – Porphyria
  31. 31. • Chronic – Congenital anomaly of posterior fossa • Dandy-walker, chiari, cerebellar dysplasias, Basilar impression – Hereditary ataxias • Freidrich ataxia, ataxia-telangectasia, spinocerebellar ataxia, – Neurodegenerative • abetaliproteinemia, vitamin E deficiency, Refsum, Niemann-Pick,
  32. 32. tumors Posterior fossa tumor -cerebellar astrocytoma, brain stem glioma, ependymoma, medulloblastoma Cerebellar Hemangioblastoma (VHL)
  33. 33. DEPENDING ON AGE OF PRESENTATION • Ataxia in children before 1 year of age:- Congenital malformation Mild arrested hydrocephalus Cerebral palsy Marinesco- Sjogren syndrome(cerebellar ataxia,MR,congenital cataract)
  34. 34. • Ataxia in children between 1-5 years of age:- Drug ingestion Acute cerebellar ataxia Myoclonic encephalopathy & neuroblastoma Inborn errors of metabolism Brain tumors Ataxia telangiectasia refsum’s disease
  35. 35. • Ataxia in children between 5-10 years:- Drug ingestion Acute cerebellar ataxia Brain tumors Wilson’s disease Adrenoleukodystrophy Hereditary ataxias
  36. 36. • Ataxia in children above 10 years:- Friedreich’s ataxia Miller Fisher syndrome Cerebellar hemorrhage Multiple sclerosis Olivopontocerebellar degeneration Hereditary ataxias
  37. 37. INVESTIGATIONS:  CBC, electrolytes, glucose, BUN, creatinine  ANA  Thyroid function tests  Alpha-FP  Immunoglobulins (IgE, IgA)  Drug screen  Vitamins B12 and E
  38. 38.  MRI  Electrodiagnostic • Nerve conduction velocities • ECG • ECHO EMG
  39. 39. Imaging  CT  MRI  PET  Cerebellum, brainstem atrophy, enlarged IV ventricle  Above +  T2 signal putamen, substantia nigra, inferior olive, pontine & dentate nuclei  Glucose utilization in cerebellar hemisphere, frontal, prefrontal area,brainstem
  40. 40. Treatment Identify treatable causes of ataxia No proven therapy for SCAs Some patients with paraneoplastic cerebellar syndrome improve following removal of tumour and immunotherapy
  41. 41. Genetic counselling can reduce risk in future generations
  42. 42. Treatable causes of ataxia Hypothyroidism Vitamin B12 deficiency Refsum’s disease Wilson’s Disease Ataxia with anti-gliadin antibodies and gluten senstive enteropathy Ataxia due to malabsorption syndromes Lyme’s disease Mitochondrial encephalomyopathies, aminoacidopathies, Leukodystrophies and urea cycle abnormalities
  43. 43. Phytanic acid -hydroxylase deficiency • Clinical features: – Retinitis pigmentosa – cardiomyopathy – hypertrophic neuropathy – Ichythiosis • Treatment: – Dietary restriction of Phytanic acid Treatable causes of inherited ataxia Refsum’s disease
  44. 44. Abetalipoproteinemia • Clinical features: – Acanthocytosis – Retinitis pigment – Fat malabsorption • Treatment: – Vitamin E Treatable causes of inherited ataxia
  45. 45. Copper accumulation • Clinical features: – Kayser-Fleischer ring – Liver involvement • Treatment: – Chelators: Penicillamine, BAL , EDTA Treatable causes of inherited ataxia Wilson’s Disease
  46. 46. Tryptophan malabsorption • Clinical features: – Pellagra rash – intermittent ataxia • Treatment: – Niacin Treatable causes of inherited ataxia Hartnup’s disease
  47. 47. Dominant Recurrent Ataxia: • Types -EA1 & EA2 • Age-5-7 years • Episodic attacks of ataxia • t/t-acetazolamide & antiepileptic
  48. 48. TYPES OF ATAXIA 1. CEREBELLAR 2. SENSORY 3. VESTIBULAR 4. FRONTAL LOBE ATAXIA 5. MIXED 6. PSYCHOGENIC 7. PSEUDO ATAXIA 8. MISCELLANEOUS
  49. 49. ACUTE CEREBELLAR ATAXIA • Age -2 to 7 years • Ataxia maximal at onset,sudden • Ataxia varies from mild unsteadiness while walking to complete inability to stand or walk. • Tendon reflex, nystagmus +/- • Diagnosis-drug screening, brain imaging & LP if encephalitis • t/t-self limited disease
  50. 50. Cerebellar Ataxia Ataxic gait and position: Left cerebellar tumor a. Sways to the right in standing position b. Steady on the right leg c. Unsteady on the left leg d. ataxic gait a b c d
  51. 51. • SENSORY- Sensory disturbances can also on occasion simulate the imbalance of cerebellar disease; with sensory ataxia, imbalance dramatically worsens when visual input is removed (Romberg sign). • VESTIBULAR – ataxia associated with vestibular nerve or labyrinthine disease results in a disorder of gait associated with a significant degree of dizziness, light-headedness, or the perception of movement
  52. 52. • PSEUDO ATAXIA- Mild Pyramidal weakness & Extrapyramidal disorders, weakness of proximal leg muscles mimics cerebellar disease • PSYCHOGENIC – Extremely anxious patients
  53. 53. Differentiation of sensory and cerebellar ataxia Cerebellar ataxia Sensory ataxia Scanning speech Normal speech Nystagmus and other ocular signs Absent Sensory exam normal, Romberg test -ve /+ve Sensory loss, Romberg’s test postive Pendular reflexes Hypo to areflexia Reeling, ataxic gait Stamping gait
  54. 54. Differentiation of vestibular and cerebellar ataxia Cerebellar ataxia Vestibular disorders Sense of imbalance Vertigo and associated tinnitus and hearing loss Past pointing is in the ipsilateral limb and in the direction of the lesion Present in both the limbs and in the direction of the lesion Gaze evoked nystagmus Direction of the nystagmus in away from the lesion Scanning speech, intention tremors, dysdiadochokinesia, rebound phenomena, hypotonia and pendular reflexes Absent  Vestibular ataxia is due to lesion of vestibular pathways resulting in impairment & imbalance of vestibular inputs. e.g. vestibular, neuronitis, streptomycin toxicity.
  55. 55. Differentiation between cerebellar and frontal lobe disorder Cerebellar Frontal Lobes Base of support Wide based Wide based Velocity Variable Very slow Stride Irregular, lurching Short, shuffling Heal to shin Abnormal Normal Initiation Normal Hesitant Turns Unsteady Hesitant, Multistep Postural instability * **** Falls Late events Frequent  Frontal lobe ataxia (Brun’s ataxia) is due to involvement of subcortical small vessels, Binswanger’s disease, multi infarct state
  56. 56. Important points in history Age at onset Mode of onset Precipitating factors Rate of progression
  57. 57. Symptoms of raised ICP Presence of systemic symptoms Drug history and toxin exposure Family history
  58. 58. Examination Neck tilt and titubation Nystagmus and other ocular movement abnormalities Dysarthria Intention tremor Hypotonia
  59. 59. Past pointing Rebound phenomenon Macrographia Stance Ataxic Gait Pendular knee jerk
  60. 60. A 4 year old boy presents to the emergency department with balance problems. He had been previously healthy, but his walking has worsened progressively for the past 2 days, with staggering and lurching. On PE, the boy is cooperative and alert. His muscles are not tender, and his joints are not red, swollen or tender. His vision seems functionally normal, but there is end-gaze nystagmus in all directions. When sitting independently, his head and trunk bob. His strength appears normal, and his reflexes are normal. When asked to stand with his hands outstretched, a symmetric tremor is evident, and worsens as he approaches this target on finger-to-nose testing. His gait is broad-based. A urine toxicology screen reveals normal results. Brain magnetic resonance imaging shows no tumors or other gray or white matter lesions. Lumbar puncture shows 3 WBCs, 2 RBCs, protein 20, glucose 50.
  61. 61. Of the following, you are MOST likely to advise the child's mother that: A. Intravenous steroids significantly reduce recurrence risk B. Neuroblastoma is a common cause of these symptoms C. Repeat lumbar puncture is needed in 2 days D. Symptoms may resolve in weeks to months E. Symptoms usually resolve after antibiotic treatment
  62. 62. D. Symptoms may resolve in weeks to months -Cerebellar ataxia -Cerebellar findings on exam: Lateral end gaze nystagmus, dysmetria, ataxia, titubation. -Subacute onset with normal mental status suggests acute cerebellar ataxia -Usually acquired after infection or immunization -MRI shows lesion -
  63. 63. Regarding other choices: A. Intravenous steroids significantly reduce recurrence risk: They don't B. Neuroblastoma is a common cause of these symptoms: not as common C. Repeat lumbar puncture is needed in 2 days: no new information E. Symptoms usually resolve after antibiotic treatment: Not a primary infectious process
  64. 64. 1. A horizontal gaze evoked nystagmus in which the direction of the fast phase reverses with sustained lateral gaze or beats transiently in the opposite direction when the eyes return to primary position is called A. Periodic alternating nystagmus B. Seesaw nystagmus C. Rebound nystagmus D. Dysconjugate nystagmus
  65. 65. 1. A horizontal gaze evoked nystagmus in which the direction of the fast phase reverses with sustained lateral gaze or beats transiently in the opposite direction when the eyes return to primary position is called A. Periodic alternating nystagmus B. Seesaw nystagmus C. Rebound nystagmus D. Dysconjugate nystagmus
  66. 66. 2. The typical signs of cerebellar herniation include the following EXCEPT A. Stiff neck B. Alteration of consciousness C. Ptosis and pupillary abnormality D. Cardiac and respiratory abnormalities
  67. 67. 2. The typical signs of cerebellar herniation include the following EXCEPT A. Stiff neck B. Alteration of consciousness C. Ptosis and pupillary abnormality D. Cardiac and respiratory abnormalities
  68. 68. 3. Romberg’s sign is positive in which type of lesion : A. Cerebellar B. Posterior column C. Hysterical D. Vestibular
  69. 69. 3. Romberg’s sign is positive in which type of lesion : A. Cerebellar B. Posterior column C. Hysterical D. Vestibular
  70. 70. 5. Which statement is not true of Friedreich’s ataxia? A. Recessive inheritance B.Dysarthria C. Flexor plantar response D. Absent ankle jerk
  71. 71. 5. Which statement is not true of Friedreich’s ataxia? A. Recessive inheritance B.Dysarthria C. Flexor plantar response D. Absent ankle jerk
  72. 72. 6. Alcoholic cerebellar degeneration is characterized by : A. Gaze evoked nystagmus B. Limb ataxia C. Gait ataxia D. Action myoclonus
  73. 73. 6. Alcoholic cerebellar degeneration is characterized by : A. Gaze evoked nystagmus B. Limb ataxia C. Gait ataxia D. Action myoclonus
  74. 74. 7. Cerebellar ataxia can result from intoxication with : A. Lead B. Mercury C. Manganese D. Gold
  75. 75. 7. Cerebellar ataxia can result from intoxication with : A. Lead B. Mercury C. Manganese D. Gold
  76. 76. References • Fenichel • Forfar • Swaimann • Nelson
  77. 77. `

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