Ataxia seminar

Ataxia seminar

1. ATAXIA BY-Dr. Shyam Kartikey Dwivedi Guide-Dr. Meenakshi Girish

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. MECHANISM OF DEVELOPING ATAXIA ANATOMY OF CEREBELLUM - LOBES - AFFERENTS - EFFERENTS - FUNCTIONS

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. Schematic representation of the major anatomical subdivisions of the cerebellum.

6. ANATOMICAL FUNCTIONAL AREAS OF THE CEREBELLUM There are 3 lobe:- Anterior lobe Posterior lobe Flocculonodular lobe

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. 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. 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. Core Symptoms Difficulty with balance of gait Clumsiness of hands Dysarthria Gaze problems

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. 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. 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. 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. 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. 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. 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. Speech- Dysarthria Altered articulation of words Abnormal fluency of speech. Scanning Dysarthria Slurring

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. 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. 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. Abdominal pain – appendicitis, PID, abscess Neurologic – weakness (muscular dystrophy, NMJ, GBS, TM), ataxia, infections – meningitis, spinal abscess. Psychogenic - conversion

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. 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. 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. 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

27. GBS Miller Fisher syndrome( ataxia,ophthalmoplegia,areflexia ) Tick paralysis Infections – encephalitis, cerebellar abscess, acute labrynthitis Toxicities – alcohol, lead Conversion reaction

28. Causes of Ataxia : EPISODIC Basilar artery migraine (benign paroxysmal vertigo ) Epileptic ataxia( pseudoataxia ) Dominant paroxysmal ataxia( episodic ataxia type-1 & type-2

29. Causes of Ataxia : EPISODIC Metabolic: Hypoglycemia Hyperammonemia Organic acid disorders , Maple syrup Hartnup , hyperpyruvic acidemia Refsum’s Porphyria

30. 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,

31. tumors Posterior fossa tumor - cerebellar astrocytoma , brain stem glioma , ependymoma , medulloblastoma Cerebellar Hemangioblastoma (VHL)

32. 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)

33. 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

34. Ataxia in children between 5-10 years:- Drug ingestion Acute cerebellar ataxia Brain tumors Wilson’s disease Adrenoleukodystrophy Hereditary ataxias

35. Ataxia in children above 10 years:- Friedreich’s ataxia Miller Fisher syndrome Cerebellar hemorrhage Multiple sclerosis Olivopontocerebellar degeneration Hereditary ataxias

36. INVESTIGATIONS: CBC, electrolytes, glucose, BUN, creatinine ANA Thyroid function tests Alpha-FP Immunoglobulins ( IgE , IgA ) Drug screen Vitamins B12 and E

37. MRI Electrodiagnostic Nerve conduction velocities ECG ECHO EMG

38. 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

39. Treatment Identify treatable causes of ataxia No proven therapy for SCAs Some patients with paraneoplastic cerebellar syndrome improve following removal of tumour and immunotherapy

40. Genetic counselling can reduce risk in future generations

41. 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

42. 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

43. Abetalipoproteinemia Clinical features: Acanthocytosis Retinitis pigment Fat malabsorption Treatment: Vitamin E Treatable causes of inherited ataxia

44. Copper accumulation Clinical features: Kayser -Fleischer ring Liver involvement Treatment: Chelators : Penicillamine , BAL , EDTA Treatable causes of inherited ataxia Wilson’s Disease

45. Tryptophan malabsorption Clinical features: Pellagra rash intermittent ataxia Treatment: Niacin Treatable causes of inherited ataxia Hartnup’s disease

46. Dominant Recurrent Ataxia: Types -EA1 & EA2 Age-5-7 years Episodic attacks of ataxia t/t- acetazolamide & antiepileptic

47. TYPES OF ATAXIA CEREBELLAR SENSORY VESTIBULAR FRONTAL LOBE ATAXIA MIXED PSYCHOGENIC PSEUDO ATAXIA MISCELLANEOUS

48. 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

49. 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

50. 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

51. PSEUDO ATAXIA- Mild Pyramidal weakness & Extrapyramidal disorders, weakness of proximal leg muscles mimics cerebellar disease PSYCHOGENIC – Extremely anxious patients

52. 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

53. 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.

54. 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

55. Important points in history Age at onset Mode of onset Precipitating factors Rate of progression

56. Symptoms of raised ICP Presence of systemic symptoms Drug history and toxin exposure Family history

57. Examination Neck tilt and titubation Nystagmus and other ocular movement abnormalities Dysarthria Intention tremor Hypotonia

58. Past pointing Rebound phenomenon Macrographia Stance Ataxic Gait Pendular knee jerk

59. Freidrich Ataxia AR Most common hereditary ataxia – 1:50,000 Caucasian Frataxin gene – 9q13 – trinculeotide repeat Affects brain, heart, pancreas. Slow onset and progressive. Onset before age 25 (often by age 5), ataxia of all 4 limbs, cerebellar dysarthria , pyramidal signs (weakness, extensor plantars ), optic atrophy, brainstem involvement (swallowing dysfunction), early loss of position/vibration without pain/temperature loss, sensineuronal hearing loss

60. Cardiomyopathy – 66% of patients – hypertrophic – main cause of death is arrhythmia and heart failure Diabetes Mellitus – 33% of patients

61. Clinical features of Friedreich’s Ataxia Autosomal recessive inheritance Onset before 25 years Progressive limb and gait ataxia Absent DTR in legs Electrophysiological evidence of axonal sensory neuropathy

62. Areflexia in all four limbs* Distal loss of position and vibration sense* Extensor plantar responses* Dysarthria * Pyramidal weakness of the legs* *Develop within 5 years of onset of disease

63. Ataxia- telangectasia AR; ATM gene; 11q22.3 1:20-100,000 ATM gene involved in detecting DNA damage, plays role in cell cycle progression Neurologic effects Progressive cerebellar ataxia (earliest feature; children usual begin walking, then have problems with fluid walking); articulation problems abnormal eye movements – oculmotor apraxia is earliest Can also have dystonia , chorea, peripheral axonal neuropathy

64. Oculocutaneous telangectasias – oculobulbar , nose, face, ear, neck. Appear age 3-5 yo . Also can have cafe-au- lait macules . Immune deficiency – recurrent sinopulmonary infections Pulmonary disease – major cause of death – recurrent infections, interstitial lung disease, neuromuscular abnormalities ( dysphagia , aspiration, resp muscle weakness) Malignancy – 10-20% will develop cancer.

65. Sporadic ataxia All acquired causes have been ruled out and there is no family history A genetic explanation for “sporadic” ataxia is obtained in 4-22%

66. SCA6 is the most common dominant mutation detected in between 6% and 13% of patients The frequency of the Freiedreich’s GAA expansion among cases of adult-onset is between 4 and 8%.

67. 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.

68. 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

69. 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 -

70. 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

71. 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

72. 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

73. 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

74. 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

75. 3. Romberg’s sign is positive in which type of lesion : A. Cerebellar B. Posterior column C. Hysterical D. Vestibular

76. 3. Romberg’s sign is positive in which type of lesion : A. Cerebellar B. Posterior column C. Hysterical D. Vestibular

77. 5. Which statement is not true of Friedreich’s ataxia? A. Recessive inheritance B.Dysarthria C. Flexor plantar response D. Absent ankle jerk

78. 5. Which statement is not true of Friedreich’s ataxia? A. Recessive inheritance B.Dysarthria C. Flexor plantar response D. Absent ankle jerk

79. 6. Alcoholic cerebellar degeneration is characterized by : A. Gaze evoked nystagmus B. Limb ataxia C. Gait ataxia D. Action myoclonus

80. 6. Alcoholic cerebellar degeneration is characterized by : A. Gaze evoked nystagmus B. Limb ataxia C. Gait ataxia D. Action myoclonus

81. 7. Cerebellar ataxia can result from intoxication with : A. Lead B. Mercury C. Manganese D. Gold