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Algorithm For Diagnosis Of Ataxia
BYKhaled Osama Abo-sha3era
Lecturer Of NeurologyAssiut University
Course 1- Non progressive or Congenital2- Intermittent3- Acute / Subacute4- Chronic or Progressive
Steps for thinking
Age at onset 1- Early onset (before 25 years)2- Late onset (after 25 years)
Cause 1- Acquired2- Inherited
a- Autosomal Recessiveb- Autosomal Dominantc- X-linked
3- Idiopathic
AcquiredAtaxic CP
Ponto-C. hypoplasia(+ microcephaly)
Vermis & C. hypoplasia(+ ∆)
Vermis hypoplasia(+ learning disability)
COACH(C. hypoplasia,
oligophrinia, ataxia, coloboma, hepatic fibrosis)
Disequilibrium Synd.(hypoTh., cataract)
Marineesco-Sjogren(PN, myopathy, cataract, short, hypogonadism, ∆)
Joubert(hypoTh., abno. eye
mov., irreg. breathing)
Paine(+ microcephaly,
myoclonus, optic a., ∆)
Gillespic(hypoTh., partial
aniredia, fixed dilated)
Post. Fossa Malformation Cerebellar Syndrome
Genetic
1- Non progressive or Congenital
I (+ AHC)
II (+ Dystonia)
Intermittent hydrocephalus
Transient ischemic attack
Basilar Migraine
Drugs/Toxins
Foramen Magnum CompressionMultiple Sclerosis
Epilepsy
Acquired Hereditary
2- Intermittent
Benign Paroxysmal Vertigo
Disorders of AA metabolism
Disorders of Pyruvate & Lactate
Intermittent Metabolic Ataxia Episodic Ataxia (EA)
Acquired Hereditary
2- Intermittent
I (+ Myokymia) (Kinesigenic)
II (+ Nystagmus) (Nonkinesigenic)
III (+ Vertigo, Tinnitus)
IV (+ Vertigo, Diplopia, Oscilliopsia)
V (+ Vertigo)
Pyrovate dehydrogenase def.Pyrovate carboxilase def.Biotidinase def.
Hartnup diseaseOrnithin transcarbamylase def.Arginase def.Arginosuccinase def.Arginosuccinase synthetase def.Isovaleric aciduriaNonketotic hyperglycinemiaIntermittent branched chain ketoaciduria
VI (+ Seizures)
3- Acute/Sub-acute
Child (1-4 year)
Acute Labyrinthitis (child with acute otitis media)
Ataxia aloneAcute Post-Infectious Cerebellar Ataxia (after varicella, coxsackie B, echoviruses, mumps, Epstein-Barr, and influenza A and B.)
Toxic Ingestion (anticonvulsants, lead, eucalyptus oil, insecticides )
Acute Cerebellitis (rotavirus, mycoplasma, and human herpes virus 6 )
Acute Disseminated Encephalomyelitis
Ataxia + ↑ ICT +Altered consciousness
Ataxia + Seizures +Altered consciousness
Ataxia + multifocal neurological deficits + Altered consciousness
Ataxia + vertigo + Nystagmus
Infant Opsoclonus Myoclonus Ataxia Syndrome (chaotic conjugate high-amplitude eye movements + myoclonus + ataxia, developmental regression + irritability)
˃ 5 year
Head trauma
3- Acute/Sub-acute
Concussion, Hemorrhage, Vertebral art. dissection
Unilateral Ataxia of abrupt onset
Stroke
Unilateral Ataxia of Subacute onset
Multiple sclerosis
Drugs/toxinsAEDs, BZD, Lithium, Isoniazide, Metronidazol, Amioderone, Cyclosporin, Cytotoxic drugs, Alcohol, Marjuana, Phenylcyclidine, Organic solvents, Carbon monoxide
Ataxia + Areflexia + ophthalmoplegia Miller Fisher
Unilateral Ataxia + ↑ICT
Cerebellar or Frontal mass (Abscess, AVM, Hemorrhage, Hemorrhage within a mass)
Heat strokeAtaxia + Fever
Other Hysterical
4- Chronic or Progressive
Hereditary IdiopathicSymptomatic
Others
Mass
Chronic Infection
Toxic
Nutritional Vit. E, Thiamin, Nicotinic acid def., Alcoholic
Creutzfeld Jakop, SSPE, Progressive Rubella panencephalitis
Medulloblastoma, Neurobalstoma, C. Astrocytoma, C. Hemangioblastoma, Ependymoma
Acrylamid, Lead, Mercury
Amyloidosis, Sarcoidosis, Whipple’s, Celiac’s, Sprue, Paraneuplastic
Endocrine Hypothyroidism, Hypoparathyroidism
4- Chronic or Progressive
Hereditary IdiopathicSymptomatic
Late OnsetEarly Onset
Other AR AtaxiasFriedreich’s Ataxia
Mitochondrial DNA Repair Defect
X-linked early onset Ataxia
Progressive Metabolic
Cranio-cervical malformation
Friedreich’s Ataxia (FA)
Celebellar Ataxia, Post. colomun, Pyramidal, PN ± Cardiomyopathy, optic atrophy, gaze fixation instability, DM, deafness, scoliosis, distal muscle atrophy
Early Onset
Ataxia with vit. E def. (AVED)
FA like + Head titubation + Retinitis pigmentosa ± Tremors, Dystonia ↓ Vit. E
Abetalipoproteinemia (ABL)
Refsum’sdisease (RD)
FA like + Steatorrhea + Retinitis pigmentosa + PN + Ext. ophthalmoplegia + Acanthocytosis + ↓ B-lipoprotien, Cholesterol, Vit. E
FA like + Retinitis pigmentosa + anosmia + PN + ± Deafness
Cerebro-tendinousxanthomatosis (CTX)
Ataxia + spastic paraparesis + Dementia + PN + Juvenile cataract + tendon xanthoma+ chronic diarrhoea ± Epilepsy.
Early Onset
Ataxia-telangiectasia (AT)
Early onset ataxia with retained reflexes + Telangectasia + Oculomotor apraxia ± choreo-athetosis, dystonia, AHD, large fiber neuropathy, Myoclonus, Immunodeficiency, hypersensitivity to ionizing radiation, Lymphoma, DM, hypogonadism
Ataxia with oculo-motor apraxia (AOA)
AR Ataxia of Charlevoix-Saguenay
Early onset ataxia with retained reflexes + Oculomotor apraxia + ocular saccadic impairment + Strabismus + head thrusting + chorea + Dystonia
Early onset ataxia with retained reflexes + Abnormal retinal myelination around blood vessels
Wilson disease + Tremors + Rigidity + Dystonia + Behavioral changes + Kaiser-Fleischer ring + Liver impairment
Early Onset
Aceruloplasminemia+ dementia + Dystonia + Chorea + DM ± Retinal degeneration
Metachromatic leukodystrophy
XlinkedAdreno-
leukodystrophy
+ Mental deterioration + PN + Optic Atrophy + Salt craving, Vomiting, Fatigue, hyper-pigmentation MRI: band like demyelination in occipital lobes and splenium
+ Mental deterioration + PN + Optic Atrophy
Krabbe disease + Mental deterioration + Weakness + Paresthesias of extremities
Niemann-Pick C + Dementia + Dystonia + Vertical gaze palsy + Splenomegally ± ∆, Epilepsy, Gelastic cataplexy
MILAS Migraine, Stroke, Dementia, Epilepsy, Myoclonus, PN, late-onset PEO ± Myopathy, Deafness, DM, Short stature
Early Onset
Kearns Sayre syndrome
Leigh syndrome
+ Chronic PEO + Pigmentary retinopathy, cardiac conduction defects ± Myopathy, Deafness, Dementia, Seizures, DM, Hypoparathyroidism
Developmental delay, Seizures, Optic atrophy, Retinitis pigmentosa, CPEO, lactic acidosis, hypotonia
NARP Neuropathy, Ataxia, Retinitis pigmentosa
MERFF+ Myoclonus, GTCC, myopathy, dementia, CPEO, deafness
May-White syndrome
Myoclonus, Ataxia, Deafness
4- Chronic or Progressive
Hereditary IdiopathicSymptomatic
Late OnsetEarly Onset
Late Onset Friedreich’s Ataxia
AD Cerebellar Ataxia
Fragile-X-associated tremor ataxia
syndrome
AD Cerebellar Ataxia
SCA type 1 + Nystagmus + Hypermetric saccades + ∆
+ Sensory ataxia + PN
+ Slowed saccadic eye movements + Hyporeflexia + PN SCA type 2
SCA type 3+ Nystagmus + Ophthalmoplegia ± ∆, Dystonia, Parkinsonism, PN, AHC, Facial fasciculations, "Bulging eyes“
SCA type 4
+ Visual loss SCA type 7
+ Epilepsy + PN SCA type 10
+ Mental retardation SCA type 13
+ Axial myoclonus SCA type 14
AD Cerebellar Ataxia
SCA type 17 + Dementia + Parkinsonism + Postural temor + Dyskinesias
+ Dementia + Parkinsonism
+ Postural tremor + Myoclonus SCA type 19
SCA type 21
+ Palatal tremor + Spasmodic dysphonia SCA type 20
+ Myoclonus + Sacadic intrusions + PN SCA type 24
+ Ptosis SCA type 28
+ Myoclonus + Chorea + Dementia DRPLA
+ Head tremor SCA type 16
Fragile-X-associated tremor ataxia syndrome (FXTAS)
+ Postural or intention tremor + Parkinsonism + autonomic dysfunction ± PN, dementia, ∆MRI: symmetric hyperintense lesions in the middle cerebellar peduncles visible on T2-weighted MRI
4- Chronic or Progressive
Hereditary IdiopathicSymptomatic
Gait & LL ataxia alone
+ Vertigo, PN
+ Severe postural & intentional tremors
+ Dementia, Dysphagia, Dysarthia, ∆
Dyssynergia Cellebellaris Progressiva
Dejerine Thomas
ILOCA with bilat. Vistibulopathy & Sensory neuropathy
Marie Faix Alajouanine
Idio
path
ic L
ate
onse
tCe
rebe
llar A
taxi
a (IL
OCA
)
+ Dementia, Parkinsonism, Autonomic, ∆ Multiple system atrophy (MSA)
Thank you