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Clinical exam flashcards > Ataxia > Flashcards

Ataxia Flashcards

1
Q

Definition of ataxia

A

incoordination of movement and balance due to dysfunction

  • cerebellar
  • sensory or motor pathways (connecting to CB)
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2
Q

Aetiology of congenital cerebellar ataxia - congenital CNS anomalies

A

dandy-walker syndrome, chiari malformation, encephalocele, agenesis of CB vermis

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3
Q

Aetiology of congenital cerebellar ataxia - spinocerebellar degenerative

A

AT, Friedrich ataxia, olivopontocerebellar atrophy, abetalipoproteinemia (metabolic)

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4
Q

Aetiology of congenital cerebellar ataxia - other degenerative

A

GM2 gangliosidosis, neuronal ceroid lipofuscinosis, pelizaeus-merbacher disease

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5
Q

Aetiology of congenital cerebellar ataxia - metabolic

A

arginosuccuric aciduria, maple syrup disease, pyruvate decarboxylase deficiency, hartnup disease, vitamin e deficiency

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6
Q

Aetiology of acquired infectious cerebellar ataxia

A

acute cerebellar ataxia (post-viral e.g. varicella, coxsackie, echovirus), cerebellar abscess
Miller Fischer variant of GBS (ataxia, ophthalmoplegia, areflexia)

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7
Q

Aetiology of acquired toxin causes of cerebellar ataxia

A

ETOH, ethylene glycol, sedatives, hypnotics, thallium (used occasionally as pesticides), lead, mercury, hydrocarbon fumes

Anticonvulsants (CBZ and especially phenytoin, when serum level >30mcg/mL - 120umol/L)

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8
Q

Aetiology of acquired tumour causes of cerebellar ataxia

A
  • Cerebellar tumours
  • Posterior fossa tumours: medulloblastoma, astrocytoma
  • Frontal lobs tumours: ataxia by destruction of fibres connecting frontal lobe with CB
  • Neuroblastoma: encephalopathy characterised by progressive ataxia, myoclonic jerks, opsoclonus (non-rhythmic horizontal and vertical oscillation of the eyes)
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9
Q

Other than trauma, what are other aetiologies of cerebellar ataxia

A

Vascular events, migraine, seizures

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10
Q

What vestibular disease is an aetiology for cerebellar ataxia?

A

acute laryinthitis - middle ear infection, intense vertigo, vomiting and abnormal labyrinthine function (esp ice water caloric testing)

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11
Q

What posterior column aetiology for cerebellar ataxia?

A
  • subacute combined degeneration of the cord: B12 def (symptoms similar to friedrich’s ataxia) - UMNL of LL with absent ankle reflexes, dorsal column loss, peripheral sensory neuropathy, also optic atrophy and dementia
  • AT
  • tabes dorsalis
  • diabetes
  • hypothyroidism
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12
Q

Causes of peripheral neuropathy?

A 
D = drugs (isoniazid, vincristine, phenytoin, nitrofurantoin, cisplatin, heavy metals, amiodarone)
A = Alcohol
M = metabolic - diabetes, CRF, neurodegenerative
I = infective - GBS but usually predominantly motor
T = tumour (leukaemia, lymphoma)
B = B12 deficiency
I = Idiopathic
C = Connective tissue disease (SLE, PAN)
H = Hereditary - HSMN
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13
Q

Causes of acute onset ataxia

A
  • infectious - acute post infectious, labrynthitis, miller fischer variant GBS)
  • drug ingestion
  • seizure, head injury, vascular event (stroke), brain tumour, hydrocephalus
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14
Q

Causes of developing chronic ataxia on history

A
  • tumour

- neurodegenerative

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15
Q

What are some underlying causes of ataxia on history

A

o CNS abnormality/degenerative – associated congenital anomalies, FHx
o Metabolic – FHx
o Infectious – features of acute infectious, labyrinthitis
o Tumour – Sx of ICP
o Exposure to drugs and toxins
o Recurrent respiratory and sinus infections (ataxia telangiectasia)

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16
Q

What are developmental features on history that you want to discern ataxia

A

Determine if clumsy or true ataxia

17
Q

Eye signs of cerebellar dysfunction?

A

nystagmus (lateral gaze)

18
Q

Speech signs of cerebellar dysfunction?

A

Scanning dysarthria, explosive speech ‘sizzling sausages’

19
Q

Truncal signs of cerebellar dysfunction?

A

truncal ataxia, head titubation

20
Q

Limb signs of cerebellar dysfunction?

A

Dysmetria (finger-nose or heel-shin)
Dyssynergia (hand movements clumsy and jerky)
Dysdiadokokinesia (at back hand with the other)
Romberg +ve
+/- hypotonia, +/- reduced tendon reflexes

21
Q

Gait signs of cerebellar dysfunction?

A

broad based and veer toward side of abnormality

22
Q

What might reduced growth point towards in an ataxia case?

A

Ataxis Telangiectasia, metabolic disorder, abetalipoproteinaemia

23
Q

What might high blood pressure suggest in an ataxia case?

A

ICP, neuroblastoma

24
Q

What might fever suggest in a ataxia case?

A

CB abscess, meningitis, encephalitis

25
Q

Upper limb signs in an ataxia case?

A 
Clubbing (repeated infection in ataxia telangiectasia)
CLD signs (Wilson's Dx)
26
Q

Head and neck signs in an ataxia case?

A 
Scalp - any scars from surgery
Bruits @ head - AVM CB malformation
 Eyes
o Cataracts (abetalipoproteinaemia)
o KF rings (Wilson’s)
o Fundoscopy (Lawrence, metabolic)
ENT exam
o Hypertrophied gums (phenytoin)
o Recurrent nasal, middle ear and lung infections (AT)
o Hypoplastic tonsils (AT)
o SNL hearing loss (FA)
Axillary and cervical nodes - lymphoma (AT)
27
Q

Chest signs in an ataxia case?

A 
Bone pain (AT --> increased risk of leukemia)
CVS exam (HOCM --> FA)
28
Q

Abdomen signs in an ataxia case?

A

Gonadal atrophy (AT)
Neuroblastoma mass
HSM (AT –> increased risk of leukemia, metabolic disorders)

29
Q

MSK signs in an ataxia case?

A

In Fredriech ataxia:

  • pes cavus (typical)
  • hammer toes
  • kyphoscoliosis
30
Q

What might you look for in a formal CNS exam in an ataxia case?

A
  • Developmental delay (AT, metabolic disorders)
  • LMN: abetalipoproteinaemia, FA, AT
  • Sensory disturbance: abetalipoproteinaemia, FA
  • Gait: veers toward involved side (if cerebellar)
31
Q

What investigations might you want in an ataxia case?

A

Bloods:
- FBC, UEC, +/- toxicology screen blood (and urine) +/- metabolic screen (amino acids, lactate, pyruvate, ammonia, pH, ketones)

32
Q

What imaging might you want in an ataxia case?

A

CT/MRI needed: nil nil lesion –> detailed metabolic and genetic evaluation

33
Q

What special investigation might you want in an ataxia case?

A

+/- LP (post imaging)

VMA/HVA urine if think neuroblastoma (need image of chest and abdomen as well)

Clinical exam flashcards (3 decks)

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