Ataxia

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clinical approach to a pt of ataxia

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  • Atxaia can be a component of any of these systems involvement….
  • BUT THEN HOW ARE WE GOING TO SAY THAT THE ATAXIA OF THE PT IS BECAUSE ONLY BCOS OF CEREBELLAR INVOLVEMENT…BY TESTING THE CELEBELLAR FUNCTIONS….WE MUST KNOW WHAT TESTS ARE TO BE DONE TO ELICIT THIS DYSFXN….THATS EASY TO UNDERSATND IF WE KNOW THE CLINICAL ASPECTS OF ANATOMY, PHYSIO AND VASCULAR SUPPLY IF CERE….
  • LOCALOSATION OF SYMP AND SIGNS…
  • INVOLVEMENT OF THESE====FLORID DRAMATIC CEREBELLAR SYNMPTOMS
  • VASCULAR SYNDROMES…
  • IN ADDITION TO ATAXIA………OTHER…..trouble coordinating complex movements including contraction of agonist and antagonist muscle pairs; inaccuracy in reaching target due to premature arrest of movement (hypometria) or overshoot the target (hypermetria) trouble with rapid alternating movements such as pronation-supination of arm, with
  • Abnormalitites in breathing and its integration with speech
  • We are looking at the variuos causes and salient features of each will be discussed shortly……
  • Many others not men.
  • Cardiac- hocm, conduction defects
  • Ataxia

    1. 1. APPROACH TO ATAXIADr. Deep Chandh Raja.S
    2. 2. SYNOPSISImportant concepts in AtaxiaATAXIA MIMICKERSTests of Cerebellar dysfunctionStep-wise approach to Cerebellar AtaxiasSummaryALGORITHM for cerebellar ataxias
    3. 3. ‘In Simple Terms…”• ATAXIA- “Absence of ORDER” (Greek Word)• In Neurological Terms-“Incoordination of movement”• A major feature of a disease or just one of thevarious clinical features of a disease
    4. 4. Definition• Ataxia is the inability to make smooth,accurate and coordinated movements• Arises from disorders of:––Cerebellum––Sensory pathways (Sensory Ataxia)––Posterior columns, dorsal root ganglia,peripheral nerves––Frontal lobe lesions––Extra pyramidal system––Vestibular system
    5. 5. Tests to differentiate Various systemsin Ataxia- “The Ataxia Mimickers”
    6. 6. Cerebellar AtaxiaCortical AtaxiaMyopathyLabrynthine AtaxiaSensory Ataxia(Posterior Column)Thalamic AtaxiaSensory Ataxia(PeripheralNeuropahy))
    7. 7. SENSORY ATAXIA“Disturbances in the sensory input to the cerebellum”•Tests of proprioception- Joint sense, passivemovement“The corrective effects of the Visual system”•Classical Sensory Ataxic Gait•Romberg’s sign•Loss of tendon reflexes•Features of Peripheral neuropathy
    8. 8. • CaveatsFriederick’s ataxia, Multiple sclerosis…• Overlap of clinical features to be expected inclinical practice
    9. 9. Muscle weakness• In the Miller-Fisher syndrome, which isconsidered to be a variant of acute Guillain-Barrépolyneuropathy• The severe ataxia and intention tremor arepresumably a result of a highly selectiveperipheral disorder of spinocerebellar nervefibers• Simple “tests of muscle power” can help detectmuscle weakness in various muscle groups• CAVEAT- lead poisoning
    10. 10. Labrynthine Disorders• Input to cerebellum• Dizziness, light headedness, perception of“movement”, rotatory nystagmus• Infections, neoplasms, vascular causesCAVEAT: involvement of flocculonodular lobe ofcerebellum, paraneoplastic and lateralmedullary syndromes (lateral medulla andinferior lobe of cerebellum)
    11. 11. Cortical Ataxias FRONTAL LOBE ATAXIA refers to disturbed coordination due todysfunction of the contralateral frontal lobe;-Results from disease involving the frontopontocerebellar fibersen route to synapse in the pontine nuclei.• hyperreflexia, increased tone and Release reflexes A lesion of the “SUPERIOR PARIETAL LOBULE” (areas 5 and 7 ofBrodmann) may rarely result in ataxia of the contralaterallimbs
    12. 12. Thalamic Ataxias- transient ataxia affecting contralateral limbsafter lesion of anterior thalamus- may see associated motor (pyramidal tract)signs from involvement of internal capsule- also can result in asterixis in contralaterallimbs (hemiasterixis)
    13. 13. BEWARE OF EXTREMELY ANXIOUS PATIENTS!!!
    14. 14. CEREBELLARATAXIAS“ATAXIA IS THE MOST IMPORTANT FEATUREAMIDST OTHER CLINICAL SIGNS OF CEREBELLARDYSFUNCTION”
    15. 15. NEO CEREBELLUMFLOCCULONODULARLOBESPINO CEREBELLUM
    16. 16. TESTS OF CEREBELLAR DYSFUNCTION
    17. 17. ATAXIA“errors in the RATE, RANGE, FORCE & DIRECTIONof movement”•GAIT ATAXIA•TRUNCAL ATAXIA•LIMB ATAXIA
    18. 18. CLASSIC FEATURES AND TESTSDyssynergia: results in jerky decomposedmovements (heel-knee-shin test)Dysmetria: due to delayed activation ofantagonists•- often correction to target by series of jerkycorrections (finger nose test)•- may lead to intention tremor in limbs withfinger-to-nose or foot-to-target testing asrhythmic oscillation emerges close to targetDysdiadochokinesis: irregularities of force,speed, and rhythm
    19. 19. Other featuresHypotonia: decrease in resistance to passive movement ofmuscles related to depression of gamma motor neuronactivity (usually seen transiently in acute phase ofcerebellar lesions), pendullar knee jerkRebound phenomenon: related to poor tone and weakcheck response, so when tap or displace limb, wider rangeof movement in return to static position, incl. Holmesphenomenon when suddenly release flexed arm heldagainst resistance - unable to stop flexion and arm strikeself (delay in activation of antagonist triceps muscle)Dysarthria: often scanning type with irregularities in tone,with words broken into syllables; often slow withoccasional rapid portions ("explosive speech")
    20. 20. Other featuresOcular Motor Abnormalities:- usually if vestibular connections or flocculonodular lobeaffected- pursuit movements no longer smooth, but saccadic- may over- or under-shoot target with attempts at fixation(ocular dysmetria)- in primary position may see saccadic intrusions (suchas macro square-wave jerks) or primary nystagmus (incl.vertical, esp up-beat nystagmus) or periodic alternatingnystagmus-rebound nystagmus can occur with contralateral-beatingnystagmus on return of eyes to primary position aftereccentric gaze evoked nystagmus to one sideWriting abnormalitiesPositional projectile vomiting (posterior fossa lesions)
    21. 21. APPROACH TO CEREBELLAR ATAXIAIN ADULTS
    22. 22. THE “FOUR” QUESTIONS????• Mode of ONSET ?• PROGRESSION ?• Focal /Symmetric involvement ?• Localisation of the cerebellar lesion ?HISTORYEXAMINATION
    23. 23. MODE OF ONSET• ACUTE- hours to days• SUB ACUTE- days to weeks• CHRONIC- months to years
    24. 24. ACUTE ONSET ATAXIA• INTOXICATION: alcohol , lithium , phenytoin ,barbiturates• POST INFECTIOUS: Acute Viral Cerebellitis,VZV• VASCULAR: Infarction (AICA, PICA syndromes),Haemorrhage, Subdural hematoma
    25. 25. SUB ACUTE ATAXIA• INTOXICATION: Mercury, Solvents, Glue• NUTRITIONAL: B1 and B12 deficiency• INFECTION: HIV• DEMYELINATING: Multiple Sclerosis• NEOPLASTIC: Glioma, Metastases
    26. 26. CHRONIC ATAXIA• AUTOIMMUNE CAUSES : Paraneoplasticsyndromes, Gluten hypersensitivity, Anti GADabs.• HYPOTHYROIDISM• INFECTIONS: Syphilis (Tabes Dorasalis)• CONGENITAL LESIONS: Arnold-Chiari and DandyWalker Syndromes• INHERITED ATAXIAS: AD,AR,XR,XD,Mitochondrial
    27. 27. PROGRESSION• Progressive• Static• Intermittent symptoms• Reversible Ataxias
    28. 28. PROGRESSIVE ATAXIACLASSIFICATIONS OF GREENFIELD AND OFHARDINGinto three main groups:(1) the spinocerebellar ataxias, with unmistakableinvolvement of the spinal cord (Romberg sign, sensoryloss, diminished tendon reflexes, Babinski signs);(2) the pure cerebellar ataxias, with no otherassociated neurologic disorders; and(3) the complicated cerebellar ataxias, with a varietyof pyramidal, extrapyramidal, retinal, optic nerve,oculomotor, auditory, peripheral nerve, andcerebrocortical accompaniments including what is
    29. 29. STATIC ATAXIAS• Vascular causesREVERSIBLE ATAXIAS• Infectious causes – post viral• Thyroid• Drugs• ToxinsINTERMITTENT SYMPTOMS• Episodic Ataxias (Inherited etiology)
    30. 30. FOCAL / SYMMETRIC ATAXIAS• Cerebellar symptoms on same side of lesion, or• Bilateral symptomsFOCAL ATAXIASVascular causes, Multiple Sclerosis, Cerebellarabscess, cerebellar glioma, PML (HIV), CongenitalcausesSYMMETRIC ATAXIASIntoxication, Nutritional, Post inhectious,Hypothyroid, Autoimmune causes
    31. 31. LOCATION OF LESION• CEREBELLAR HEMISPHERIC SYNDROMEIpsilateral head & Body cerebellar signs Infarct,Neoplasm, Abscess, Demyelination• ROSTRAL VERMIS SYNDROMEgait and TrunkAtaxia Alcoholism, B1 deficiency• CAUDAL VERMIS SYNDROME Disequilibrium,Trunk ataxiaMedullobalstomas• PANCEREBELLAR SYNDROME Bilateral signsToxins, metabolic, Infections, Autoimmune,Inherited• CEREBELLAR PEDUNCLES Dramatic cerebellarsymptoms
    32. 32. PICA(Lateral medullary-Wallenberg Syndrome)
    33. 33. AICA(Lateral Inferior Pontine Syndrome)• Vestibular N. i/l vertigo, nystagmus• Cochear n.  i/l deafness• 7thCranial Nerve i/l facial palsy• Cerebellum  i/l Ataxia• 5thcranial nerve i/l hemisensory loss of face• Spinothalamic Tract C/L hemisensory loss
    34. 34. THE NEXT STEP …RULE OUTACQUIRED ATAXIASINHERITED ATAXIASSPORADIC orIDIOPATHICATAXIAS
    35. 35. ACQUIRED ATAXIAS• First rule out the Structural causes (MRI Brain/CT head)-CVJ anomalies-Posterior fossa tumors-Demyelinating diseases-Hypoxic encephalopathies-Vascular causes- infarct, haemorrhage
    36. 36. Acquired Causes• HYPOTHYROIDISM- Mild gait ataxia PLUSSystems of hypothyroidism
    37. 37. ALCOHOLISM• Vermian Atrophy
    38. 38. TOXINS• Cancer chemotherapeutics 5 FU, Cytarabine• Metals Bismuth, Mercury (parasthesiass,restricted visual defects), Lead• SolventsPaint thinners , toluene (Cognitivedefects PLUS pyramidal tract signs)• AnticonvulsantsPhenytoin (purkinje cellloss)avoid in epileptics with ataxia
    39. 39. INFECTIONS• VZV in children• EBV in children• Bickerstaff’s encephalitis (brainstemophthalmoplegia,ataxia,lower c.npalsies)• HIV ( Lymphomas, PML, Infections,Toxoplasmosis)• CJD (17% classic CJD, Ataxic variant of CJD)• Syphilis (Tabes Dorsalis)• Whipple’s disease
    40. 40. AUTOIMMUNE CAUSESPARANEOPLASTIC SYNDROMES•ANTI Hu abs. Small Cell Cancer Lung(extrapyramidal signs)•ANTI Yo abs. Ovarian cancer•ANTI Ri abs. Breast cancer (opsoclonus –saccadomania, Trunk ataxia)•ANTI Tr abs. Hodgkin’s lymphoma (hearingloss)
    41. 41. • GLUTEN SENSITIVITY - Anti Gliadin abs.(ataxia, brisk reflexes, peripheral neuropathies)• ANTI GAD abs. – Diabetes, hypothyroidism,peripheral neuropathySTIFF PERSONsyndromeAUTOIMMUNE CAUSES
    42. 42. NUTRITIONAL CAUSES• FAT MALABSORPTION- Vit. E deficiency• Vit. B12 , B1 deficiencies
    43. 43. INHERITED ATAXIAS• AD• AR• MITOCHONDRIAL DISTURBANCES• X LINKED RECESSIVE• X LINKED DOMINANT
    44. 44. INHERITED ATAXIAS
    45. 45. INHERITED ATAXIAS
    46. 46. AUTOSOMAL DOMINANT
    47. 47. • SPINO CEREBELLAR ATAXIAS (Types131)-previously olivopontocerebellar atrophies• DentatoRubroPallidoLuysian Atrophy• EPISODIC ATAXIAS (Types 17)AUTOSOMAL DOMINANT
    48. 48. SCA SALIENT FEATURES• 3-5th decade of life ONSET, loss of ambulationover 10-15 yrs. from onset• Phenomena called ANTICIPATION andPENETRANCE differs from eachSCAresponsible for various ages ofpresentation and variable phenotypicexpression• CAG repeat expansion in most of them
    49. 49. • UMN SIGNS SCA 1, SCA7, SCA 8• OLDER AGESCA 6• MENTAL RETARDATIONSCA 13• VISUAL LOSSSCA 7• CHOREA, MYOCLONUSDRPLA• SEIZURES SCA 10• AREFLEXIASCA 2• INTEREPISODIC NYSTAGMUSEA 2• INTEREPISODIC MYOKYMIA EA1• NO FAMILY h/o SCA 6AD ATAXIAS’ SALIENT FEATURES
    50. 50. SCA 5SCA 2MJDSCA 7
    51. 51. AUTOSOMAL RECESSIVE ATAXIAS
    52. 52. • FRIEDERICK’S ATAXIA• ATAXIA TELANGIECTASIA• ATAXIA WITH ISOLATED VIT.E DEFICIENCY• ABETALIPOPROTEINEMIA• ENZYME DEFICIENCIES (Maple Syrup urinedisease, Urea cycle defects, Sialidosis,Adrenoleucodystrophy,Organic aciduria,Pyruvate dehydogenase def.)AUTOSOMAL RECESSIVE ATAXIAS
    53. 53. Friederick’s ataxia• Unstable expansion of GAA repeatsFRATAXINproteiniron accumulation inmitochondrianito.injuryneuronal injury• DORSAL GANGLION CELLS- absent reflexes• DORSAL COLUMN DEGENERATION-dec.post.column senses• SPINOCEREBELLAR TRACT-gait atxia, dysarthria• CORTICOSPINAL TRACT- Babinski Positive• OTHER SIGNS- dysphagia,optic atrophy, spinal andfoot deformities, diabetes (10%), cardiac defects(50%)
    54. 54. Friederick’s ataxia
    55. 55. • NATURAL HISTORY:-onset <25 yrs. At ADOLESCENCE-loss of ambulation 15 yrs. Since onset-Death usualyy due to cardiac complications• VARIANTS:-FA with Retained reflexes-Late onset FAFriederick’s ataxia
    56. 56. ATAXIA TELANGIECTASIA• OCULOMOTOR APRAXIA , TELANGIECATSIASIN EYES, SKIN• Hematological malignancies (defective DNArepairs)• Infections (Ig deficiencies)• Other features-peripheral neuropathy,choreoathetosis
    57. 57. ATAXIA TELANGIECTASIA
    58. 58. Mitochondrial Inheritance• MERRF• MELAS• NARP• RP degeneration• Short stature, Endocrine deficiencies,
    59. 59. X linked ATAXIAS• X linked Dominant- Fragile X syndrome• CGG repeats’ expansion
    60. 60. • X linked Recessive Ataxias- Sideroblasticanemia with ataxiaX linked ATAXIAS
    61. 61. SPORADIC or IDIOPATHIC ATAXIAS• Unknown genetic defects after ruling outacquired causes• Old age of onset• Presents with Dysautonomia –Orthostatichypotension, erectile dysfunction, Urinaryincontinence
    62. 62. Investigations• MRI Brain and Upper cervical cord• CT Head• Vit. E, B12 levels• Total cholesterol levels, Thyroid hormones• NCV and EMG studies (to rule out other systems’involvement)• Toxicology screen (includes phenytoin levels)• Serology screen (for autoantibodies)• CSF analysis• Genetic Analyses (GAA, CGG, CAG repeatanalyses)
    63. 63. TREATMENT• Reversible causes to be identified and treated• Structural lesions to be considered for surgery• Dietary modifications• IDEBENONE- in Friederick’s Ataxia• RILUZOLE- in Friederick’s Ataxia• ACETAZOLAMIDE- in Episodc Ataxia• GENETIC COUNSELLING
    64. 64. HISTORY SUMMARY1. Duration: acute, subacute vs chronic2. Rate of Progression: static vs progressive3. Constant vs Paroxysmal4. Associated features:- headache & vomiting suggesting mass lesion with raised ICP- previous neurological events (similar with ataxia - as inepisodic ataxias, or other as in multiple sclerosis orvertebrobasilar TIAs)5. Medical History:- recent infection, Hx of malignancy or weight loss, breastmass / tenderness, cough / hemoptysis- drug use / intoxication, medications, alcohol, smoking,environmental exposures6. Family History positive or negative (in siblings or cousinsbut not parents suggesting autosomal recessive or parentsand/or sibs suggesting autosomal dominant inheritance
    65. 65. EXAMINATION SUMMARYGeneral examination:- signs of primary neoplasm (with paraneoplastic or metastaticataxia), vascular disease (stroke), cardiac abnormality (Friedreicks) or Kayser-Fleischer rings (Wilsons)-short stature and cataracts with mitochondrial diseaseHigher Mental Functions:- confusion associated with ataxia in Wernickes, drug orenvironmental toxicity, prion diseases or any conditionobstructing 4th ventricle leading to hydrocephalus with raisedICP
    66. 66. Cranial Nerves:- ophthalmoplegia seen in Wernickes, brainstem infarcts,demyelinating lesions, and Miller-Fisher syndrome (MFS)- nystagmus common in most vestibulocerebellar (orpancerebellar) disorders but prominent if drug toxicity (eg.phenytoin), Wernickes and multiple sclerosis (also episodicataxia-2)- associated brainstem (cranial nerve) dysfunction ifconcomitant involvement of brainstem or compression of itby mass effect from cerebellum- hearing loss or tinnitus with lesions of the cerebellopontineangle (eg. vestibular schwannoma or meningioma)EXAMINATION SUMMARY
    67. 67. EXAMINATION SUMMARYMotor:- weakness associated with ataxia is uncommon but can beseen ipsilaterally with infarcts (or other lesions) of the basispontis or internal capsule (ataxic hemiparesis syndrome)- also seen in MFS (with concomitant demyelinatingpolyneuropathy), cord dysfunction (in paraneoplasticsyndromes or demyelinating multifocal disease)- tremor associated either as intention tremor of cerebellarorigin or postural tremor in FXTAS (Fragile X), multiplesclerosis, Wilsons disease- myoclonus in prion disorders with cerebellar involvement- parkinsonism with ataxia in multiple systems atrophy (alsodystonia and chorea if DRPLA)
    68. 68. SUMMARY• RULE OUT “ATAXIA MIMICKERS”• CONFIRM PREDOMINANT CEREBELLARINVOLVEMENT WITH RESPECTIVE TESTS• ANSWER THE “FOUR” QUESTIONS(Onset, progression, Symmetry, Localisation oflesion)• RULE OUT ACQUIRED CAUSES• LARGE PEDIGREE CHART• GENETIC ANALYSES
    69. 69. ALGORITHMPEDIGREE CHARTACQUIREDCAUSESADIMAGING(MRI,CT)SCA1,2MJDSCA6,7SCA10,12DRPLASCA17FAATAVEDABETALIPOPROTEINEMIA

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