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PACES 2024 > Prof Uma > Flashcards

Prof Uma Flashcards

1
Q

signs to look for to differentiate between UMN and LMN?

A

Wasting, tone, reflexes, clonus, Babinski

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2
Q

Bilateral UL and LL weakness -> next step?

A

UMN or LMN?

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3
Q

Bilateral UL and LL weakness -> LMN pattern of weakness -> what next?

A

Distal or proximal weakness

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4
Q

Bilateral UL and LL weakness -> LMN pattern of weakness -> distal weakness -> what next?

A

Sensation normal or abnormal?

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5
Q

Bilateral UL and LL weakness -> LMN pattern of weakness -> distal weakness -> normal sensation

A

Potential causes:
1) motor neuron disease: pure motor atrophy, polio
2) pure motor peripheral neuropathy: MMN
3) distal myopathy: myotonic dystrophy, inclusion body myositis

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6
Q

Bilateral UL and LL weakness -> LMN pattern of weakness -> distal weakness -> sensation abnormal -> what next?

A

Glove and stocking numbness

Vs

Patchy numbness

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7
Q

Bilateral UL and LL weakness -> LMN pattern of weakness -> distal weakness -> sensation abnormal -> glove and stocking numbness

Causes?

A

Peripheral neuropathy

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8
Q

Bilateral UL and LL weakness -> LMN pattern of weakness -> distal weakness -> sensation abnormal -> patchy numbness

Potential causes?

A

In distribution of peripheral nerve:
Mononeuritis multiplex
Mono-neuropathies
Multiple mononeuropathies: Vasculitic neuropathy, Leprosy, multiple entrapment neuropathy

Dermatomal:
Radiculopathy

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9
Q

Bilateral UL and LL weakness -> LMN pattern of weakness -> proximal weakness -> what next?

A

Sensation normal or not?

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10
Q

Bilateral UL and LL weakness -> LMN pattern of weakness -> proximal weakness -> sensation normal

Potential causes?

A

1) myopathy
2) myasthenia Gravis (fatiguable, bulbar and ocular weakness)
3) motor neuron disease: spinal muscular atrophy, progressive muscular atrophy. Polio (fasciculations, bulbar weakness)

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11
Q

Bilateral UL and LL weakness -> LMN pattern of weakness -> proximal weakness -> sensation abnormal

Potential causes?

A

If UL is normal, Lumbosacro plexo/radiculopathy

If LL normal or unilateral, c5-6 radiculopathy or brachial plexopathy

If UL and LL affected: GBS/ CIDP

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12
Q

Causes of myopathies?

A

Congenital/Inherited: dystrophy (Myotonic dystrophy, Fascioscapulohumeral dystrophy, Becker’s, limb-girdle muscular dystrophy)

Metabolic/ Endocrine: hypo/hyperthyroidism, Cushing’s syndrome, Vit D Deficiency

Neoplastic/ paraneoplastic: dermatomyositis

Inflammatory/ infectious: polymyositis, dermatomyositis, myositis

Human activity (Iatrogenic/ toxin/ trauma): Drugs-statin, fenofibrate, colchicine

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13
Q

Causes of diffuse polyneuropathy?

A

Congenital: Charcot Marie tooth, amyloidosis

Metabolic/ endocrine: DM, b12 deficiency, renal failure, hypothyroidism

Neoplastic/ paraneoplastic: anti Hu antibody associated sensory neuropathy

Inflammatory/ infectious: GBS/ CIDP, sjogrens, HIV

Drugs/ iatrogenic/ trauma: isoniazid, vincristine, cisplatin, alcohol/ lead

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14
Q

If multiple mononeuropathy in UL and LL ? Causes

A

Vasculitis neuropathy
Leprosy
Multiple entrapment neuropathy

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15
Q

How to differentiate between L5 radiculopathy, sciatic neuropathy and peroneal neuropathy?

A

All 3 have:
Weak Ankle dorsiflexion, eversion
Numbness on dorsum of foot

Both sciatic neuropathy and L5 radiculopathy:
+ Weak inversion

Sciatic neuropathy alone:
Ankle reflex absent or weak
Weak ankle plantarflexion
Numb sole

L5 radiculopathy alone;
Weak hip abduction, internal rotation and extension

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16
Q

How to differentiate between C8 radiculopathy and ulnar mononeuropathy?

A

Both have:
Weak finger abduction and flexion
Weak thumb adduction
Numb 5th digit

Ulnar neuropathy:
Split ring finger sensory loss
froments sign +

C8 radiculopathy:
Weak thumb abduction, flexion
Weak finger extension at MCPJ

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17
Q

How to differentiate between C7 radiculopathy and radial mononeuropathy?

A

Both:
- triceps reflex weak/ absent
- weak elbow extension, wrist extension, finger MCPJ extension
- numb dorsum of hand

Radial mononeuropathy:
Brachioradialis bulk and strength affected

C7 radiculopathy:
+/- mild weakness of forearm pronation
Finger extension at interphalangeal joint weak

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18
Q

How to differentiate between femoral neuropathy vs L4 radiculopathy?

A

Both have:
- weak knee reflex
- weak knee extension
- numb medial shin

Femoral neuropathy only:
Weak hip flexion

L4 radiculopathy:
Weak hip adduction
Adductor reflex affected

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19
Q

Bilateral LL weakness -> UMN pattern weakness -> what next?

A

Assess sensation

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20
Q

Bilateral LL weakness -> UMN pattern weakness -> normal sensation

Causes?

A

Motor neuron disease: look for wasted tongue with fasciculations, mixture of UMN/LMN signs

Subcortical:
Binswanger disease, multiple strokes

Cortical: parasagittal lesions (meningioma)

Hereditary spastic paraplegia

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21
Q

Bilateral LL weakness -> UMN pattern weakness -> abnormal sensation

Causes

A

Means pathology at spinal cord
-> use reflex and power to localise segment of spinal cord involved

Glove and stocking:
Chronic cervical myelopathy
Medical myelopathy

Sensory level:
Myelopathy/ myelitis (fairly acute)

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22
Q

Approach to cranial neuropathy?
4 different classifications

ie. once you notice cranial nerve pathology, work along this pathway to neurolocalise

A

Brainstem lesions: check for pronator drift, dysdiadochokinesia, babinski normal

Cranial nerve clubs

Meningeal and skull base disease e.g. TB meningitis, NPC: signs of meningism, neck stiffness. any epistaxis? any cervical lymphadenopathy

Peripheral neuropathy: GBS and its variants

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23
Q

Cranial neuropathy due to brainstem lesion

Causes

A

Except cranial nerves 1 & 2 which originate from cerebrum, CN 3-12 originate from brainstem

Midbrain: 3, 4 (look for drowsiness, vertical gaze abnormalities, cerebellar and pyramidal signs)

Pons: 5, 6, 7, 8 (look for horizontal gaze abnormalities, pyramidal, cerebellar signs, drowsiness

Medulla: 9-12
Look for horners, pyramidal, cerebellar signs, drowsiness

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24
Q

Cranial neuropathies
Cranial nerve “clubs”

A

Cavernous sinus
Orbital apex
Cerebellopontine angle
Jugular foramen

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25
Q

Cranial neuropathies
Base of skull and meningeal disease

A

Acute/ chronic meningitis: TB, carcinomatous
Base of skull pathology: NPC, radiation

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26
Q

Cranial neuropathies
Peripheral neuropathy GBS And its variants

A

GBS, miller fisher syndrome

Areflexia
Weakness
Numbness
Incoordination

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27
Q

Pt has dysarthria and dysphagia
Approach to cranial nerve exam

A

Muscle: eg myotonic dystrophy -> signs of diffuse myopathy

NMJ: not much findings in the “mouth”. fatiguable ptosis, ophthalmoplegia

Cranial nerves: asymmetric tongue (can be symmetric for bilateral CN 12), palatal deficits, dysarthria (speech abnormal), check CN XI (trapezius, SCM)

Anterior horn cell:
Wasting and fasciculations of tongue
Mixture of UMN and LMN eg brisk jaw jerk

Pseudobulbar palsy: brisk jaw jerk, no atrophy/ fasciculations

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28
Q

Ptosis -> unilateral -> what to differentiate between

A
  1. Check pupil next!!!

Horners? (Miosis)

Involvement of CN III? (dilated pupil)

  1. EOM affected?
  2. Fatiguability -> Myasthenia gravis?

Muscle: local orbit infiltration/ pathology?

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29
Q

Causes of CN III palsy?

A

Isolated CN III palsy
Cavernous sinus/ superior orbital fissure/ orbital apex
Midbrain: 3+4 with long tract/ cerebellar signs
GBS/MFS

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30
Q

Causes of horners syndrome: different areas that may be affected

A

Carotid artery/ neck
Lung apex
T1 spine
Lateral medulla (look for pyramidal/cerebellar signs + horners), AICA (lat pontine)

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31
Q

Bilateral ptosis causes

A

Myopathy eg CPEO
Myotonic dystrophy
Local infiltration

Myasthenia gravis

Bilateral CN III
- midbrain nuclear III
- GBS/ MFS

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32
Q

Blurring of vision -> what to ask next?

A

Monocular or binocular ?

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33
Q

Binocular visual loss-> what to check next?

A

Visual fields
Eg
Bitemporal
Homonymous hemianopia

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34
Q

Binocular visual loss -> bitemporal hemianopia on VF exam?

A

*remains w either eye closed

Chiasmal lesion

May have to look for endocrinopathy from pituitary lesion

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35
Q

Visual blurring ->binocular vision loss-> homonymous VF loss

How to neurolocalise

A

*should remain w either eye closed

Isolated: occipital cortex

Assoc other hemispheric signs: parietal and or temporal lobes
-> e.g right hemispheric: neglect, constructional dyspraxia
Left: dysphasia, neglect

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36
Q

Visual blurring-> binocular vision affected -> diplopia on examination?

A

Eye movement pathology
- blurring disappears with either eye closed

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37
Q

Visual blurring-> binocular loss-> central VF affected

A

Normal pupils: bilateral occipital lobe lesion (cortical blindness)

Pupils affected: bilateral optic neuropathy

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38
Q

Causes of diplopia

A

Muscle: eg thyroid eye disease, CPEO

NM junction eg myasthenia gravis

Nerve- Cranial nerve III, IV and VI

Brainstem- eg INO, skew deviation
(subcortical and cortical pathology
does not cause diplopia)

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39
Q

Visual blurring -> monocular -> what next?

A

Correctable w glasses?

RAPD present?

If correctable w glasses, no RAPD-> problem w refractory media eg myopia, cataracts

If not correctable, RAPD present-> optic neuropathy or massive retinal problem eg CRAO, CRVO

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40
Q

Causes of optic neuropathy

A

Congenital: eg Leber’s optic atrophy, Fredrich’s ataxia

Metabolic-endocrine: B12 deficiency, malnutrition, complications of thyroid eye disease

Vascular/ degenerative:
(stroke of the lI nerve-painless) AION, PION;
arteritic AION (temporal arteritis);
under degenerative-glaucoma

Inflammatory- infectious: optic neuritis in MS and NMO (painful), anti-MOG positive, sarcoidosis, Ig G4 disease;
Orbital cellulitis, Bacterial meningitis, Syphilis, Lyme disease, TB, HIV, CMV, Cryptococcal

Neoplastic: optic nerve glioma, meningioma, mets to orbits.

Drugs/iatrogenic: traumatic, radiation, methanol, ethambutol

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41
Q

Red flags of headache to suggest secondary cause

A
  1. Focal neurological deficit
  2. Obtundation of sensorium
  3. Raised intracranial pressure symptoms and signs
  4. Constitutional symptoms
  5. Character: thunderclap, new onset nocturnal headaches, persistent/prolonged/progressive, change in character, new headache in older persons
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42
Q

Parkinson’s plus syndromes : what to examine for

A

Asymmetry

# Vertical saccadic eye movements
# Cerebellar signs
# Postural hypotension, urinary incontinence, impotence

Drug history, family history, liver disease
Falls, Autonomic symptoms
Hallucinations
Hx of hypoxic cerebral injury/ encephalitis/osmotic
demyelination
Mental state examination for cognitive impairment
Response to madopar

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43
Q

Parkinsonism diagnosis : what is important to assess for after?

A
  1. Severity
  2. Disability and handicap -> get MDT to help assess and alleviate
  3. Assess for complications e.g. dyskinesia, depression, behaviourial problems, osteoporosis, falls, recurrent infection; and put in place pre-emptive/pro-active management and surveillance plan
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44
Q

Causes of cerebellar disorders

A

Congenital: spinocerebellar ataxia, AChiari malformation, Ataxia telengectasia, wilson disease

Metabolic/endocrine: Hypothyroidism, Wernicke’s

Inflammatory/Infectious: MS/ADEM, anti-MOG , (NMO from medullary lesions) anti-GAD, (? anti TPO)
Varicella, Listeria, abscess, TB, variant CJD

Neoplastic/paraneoplastic: primary/secondary tumour in cerebellum or CPA, Anti-Hu/Yo

Vascular/degenerative: Strokes, PRES, Multiple system atrophy

Toxic/iatrogenic: alcohol, phenytoin, lithium

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45
Q

General principles of how to investigate a patient?

A

• Confirm diagnosis
• Investigations to look for co-morbid
factors/risk factors/associated
disease and complications of the
illness
• Investigations to assess general
condition

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46
Q

General principles of how to manage a patient?

A

• Specific treatment
• Manage for co-morbid factors/
associated disease and complications of the illness
• Management of disability and handicap

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47
Q

Management of status migrainosus

A

1) IV maxolon 10mg tds (remember oculgyric crisis), IV sodium valproate

2) Ketorolac 30mg i/m OR diclofenac 75mg i/m (remember contraindiactions to NSAIDS)

Place patient in DARK ROOM; consider IV FLUIDS for hydration

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48
Q

What is athetosis

A

continuous stream of slow, flowing, writhing involuntary movements that prevent maintenance of a stable posture. Usually affects the hands and feet

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49
Q

What is chorea

A

repetitive, brief, irregular, somewhat rapid involuntary movements that start in one part of the body and move abruptly, unpredictably, and often continuously to another part.

It typically involves the hands, feet, and face.

The movements may merge imperceptibly into purposeful or semipurposeful acts

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50
Q

What is dystonia

A

sustained or intermittent muscle contractions cause twisting and repetitive movements, abnormal postures, or both.

Tends to be sustained at the peak of the movement, can progress to prolonged abnormal postures.

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51
Q

What is myoclonus

A

sudden, brief, jerky, and shock-like involuntary movements involving face, trunk, and extremities.

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52
Q

What is balismus

A

rapid, involuntary, non-stereotypical, non- purposeful, relatively more violent flinging movement, that involves the proximal muscle group more than distal

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53
Q

History in involuntary movements?

A
  • Time course/ Onset
  • Unilateral or bilateral?
  • Do specific actions provoke the movement?
  • Do the movements occur during sleep?
  • Can the movements be suppressed?
  • Are there aggravating or alleviating factors?
  • Infections and toxin exposures, including alcohol
  • Drug history
  • Birth history and developmental milestones
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54
Q

Involuntary movements:
Physical examination

A
  • Nature of involuntary movements
  • Rhythmic vs. Arrhythmic
  • Sustained vs. Nonsustained
  • Paroxysmal vs. Nonparoxysmal
  • Slow vs. Fast
  • Amplitude
  • At rest vs. Action
  • Supressibility
  • Finger and rapid alternating movements
  • Affected body parts
  • Detailed neurological examination
  • Cognitive assessment
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55
Q

Causes of rhythmic involuntary movements

A

• Tremor
• Dystonic tremor
• Myoclonus
• Periodic movements of sleep
• Tardive dyskinesia

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56
Q

what is kennedy’s disease?

A

bulbospinal muscular atrophy

associated androgen defect from the androgen receptor gene (trinucleotide repeat) mutation

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57
Q

features of kennedy’s disease (bulbospinal muscular atrophy)?

A
  • Proximal Weakness usually LL > UL
  • Gynaecomastia may be asymmetric
  • tongue: weakness, atrophy, fasciculations
  • Bulbar dysfunction: dysphagia, dysarthria, master weakness
  • Slowly progressive: over decades
  • Cramps in 50%

Tendon reflexes: absent or reduced
sensory: often subclinical changes
- Vibration may be reduced legs > arms

NO UMN signs

systemic:
Androgen insensitivity related: gynaecomastia, reduced fertility, testicular trophy, erectile dysfunction

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58
Q

Investigations in Kennedy’s disease (bulbospinal muscular atrophy)

A

Nerve conduction studies: reduced amplitude
EMG
Genetic studies

Serum: 

- CK high
- Serum oestradiol, gonadotropin elevated
- Lipid disorders: Type II, IV hyperlipoproteinaemia, hypobetalipoproteinaemia

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59
Q

Management of ALS?

A

Riluzole 50mg BD
Aggressive physical and speech therapy

Monitor for nocturnal hypoventilation e.g. sleep study and institute early NIV

Address psychosocial issues and depression proactively and pre-emptively, consider SSRI

If dysphagia severe consider early PEG insertion

Continue w normal work/family/social activities as much as possible

At some point, discuss EOL goals and wishes

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60
Q

what is hirayama disease?

A

Monomelic amyotrophy (MMA), also known as Hirayama disease, is a sporadic juvenile muscular atrophy in the distal upper extremities, which predominantly affects the lower cervical cord (e.g., seventh and eighth cervical vertebra levels)

usually weakness and atrophy of unilateral or bilateral hand muscles, commonly encountered in young Asian males.
-> LMN, distal weakness, no sensory loss

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61
Q

treatment of multifocal motor neuropathy?

A

IVIG

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62
Q

severe bulbar weakness and facial weakness but not much eye involvement - what version of MG?

A

MUSK +ve Myasthenia Gravis

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63
Q

What is MND progressive muscular atrophy subtype?

A

Involves only the lower motor neurons (degeneration of anterior horn cells), causing progressive weakness and atrophy

LMN weakness, no sensory involvement
preserved deep tendon reflexes

  • but take note 70% can eventually demonstrate signs of UMN degeneration
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64
Q

Investigations for motor neuron disease?

A

For diagnosis:
- Clinical history and examination of MND may be sufficient for diagnosis with classical bulbar weakness, wasting and fasciculations (including of the tongue).
- less clear-cut cases can be supported by a modest rise in CK and EMG changes consistent with denervation.
- MRI of the spine/ brainstem is often performed to rule out multi- level compressive/ degenerative disease as a mimic of motor neurone disease (MND) (e.g. mixed upper and lower motor neurone signs could be due to multilevel radiculo- myelopathy).
- Increasingly, genetic testing is used first line.

For complications:
E.g, CXR for recurrent aspiration pneumonia

For general health

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65
Q

Diagnosis of MND subtype progressive muscular atrophy?

A

Diagnosis of exclusion

Other diagnoses need to be ruled out eg multifocal motor neuropathy or spinal muscular atrophy.

Tests used in the diagnostic process include MRI, clinical examination, and EMG.

EMG usually show denervation in most affected body parts, and in some unaffected parts too.

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66
Q

What is multifocal motor neuropathy?

A

A pure motor neuropathy

  • affecting individual nerves
  • usually asymmetric involvement
  • no upper motor neuron (UMN) signs
  • no sensory deficits
  • thought to be immune mediated
  • NCS: evidence of conduction block
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67
Q
A

A long, thin face with hollow temples, drooping eyelids and, in men, balding in the front, is typical in myotonic dystrophy.

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68
Q

what is myotonic dystrophy?

A

an autosomal dominant
chronic
slowly progressing
highly variable
inherited multi systemic disease

trinucleotide repeat disorder
genetic anticipation
-> so subsequent generations may display an earlier onset and great severity of the condition

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69
Q

characteristic neurology pattern of myotonic dystrophy?

A

LMN
-> distal weakness
-> no sensory involvement

signs:
muscle wasting (especially distal)
myopathic facies with frontal balding, ptosis
myotonia with difficulty in releasing handgrip

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70
Q

Bilateral UL and LL weakness -> LMN pattern of weakness -> distal weakness -> normal sensation

what additional examination to differentiate between likely causes?

A
  • open and close hands: difficulty in releasing handgrip with myotonia -> myotonic dystrophy
  • percussion myotonia

how to differentiate between motor neuron disease vs multifocal motor neuropathy
- motor neuron disease (usually segmental pattern e.g. C7/8) + look for other signs of ALS (examine tongue!)
- multifocal motor neuropathy is usually a peripheral nerve distribution (e.g ulnar/ median)

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71
Q

diagnostic hallmark of multifocal motor neuropathy?

A

multiple motor conduction blocks

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72
Q

what antibody is implicated in multifocal motor neuropathy?

A

antibodies to ganglioside GM1
reported in 20%-80% of patients

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73
Q

what are some other non - neurological complications of myotonic dystrophy?

A

cataracts

endocrine problems:
T2DM
Thyroid dysfunction
testicular atrophy

cardiac problems:
cardiomyopathy
cardiac conduction defects (heart block)

OSA

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74
Q

what muscles are most often affected in myotonic dystrophy type 1?

A

the facial muscles
levator palpebrae superioris
temporalis
sternocleidomastoids
distal muscles of the forearm
hand intrinsic muscles
ankle dorsiflexors

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75
Q

diagnostic investigations for myotonic dystrophy

A

genetic testing

NCS, EMG which demonstate myotonia

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76
Q

investigations for complications in myotonic dystrophy

A
  • regular ophthalmology review: screen for cataracts
  • regular ECG +/- 24h holter to monitor for heart block
  • echocardiogram: may be yearly to look for cardiomyopathy
  • sleep study for OSA, pulmonary function tests
  • measure TFT, HbA1c
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77
Q

management of complications in myotonic dystrophy?

A

cardiac: pacemaker, ICD
OSA: CPAP
DM, thyroid disorder treatment

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78
Q

management of myotonic dystrophy?

A

Genetic counselling: subsequent generations may see more severe disease due to genetic anticipation

PTOT
speech therapy if there are swallowing impairment issues

for myotonia:
sodium channel blockers, TCAs, benzodiazepines

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79
Q

what special examination to do when suspecting myotonic dystrophy?

A
  1. grip myotonia (close hand tight then open hand quickly)
  2. percussion myotonia (percuss over thenar eminence)
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80
Q

what is Motor neuron disease?

A

progressive neuronal degenerative disease leading to severe disability and death

(involves degeneration of both UMN and LMN)

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81
Q

what are the different clinical subtypes of MND?

A
  1. Most common: Amyotrophic lateral sclerosis (ALS)
    - 5-10% are familial, mostly of autosomal dominant inheritance
    - mixed UMN and LMN involvement of bulbar structures/ UL and LL
  2. Progressive bulbar palsy
    - dominant bulbar weakness
    - 50% mortality within 30 months of symptom onset
  3. Primary lateral sclerosis
    - exclusive UMN involvement
    - tends to progress more slowly
  4. Progressive muscular atrophy
    - only LMN
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82
Q

structures involved in Amyotrophic Lateral Sclerosis?

A

Upper and lower motor neurone involvement of bulbar structures (nerves, tracts and muscles [including those of the tongue, pharynx and larynx] connected to the medulla) +
upper and lower limbs.

-> Must think about in patients with dysphagia, dysarthria, weakness

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83
Q

Management of motor neuron disease?

A

treating the condition: supportive
riluzole has been demonstrated to extend life by about 2- 3 months (delaying requirement for ventilation +/- trache)

NIV for support of breathing

MDT approach:
- Speech therapy to assess and manage bulbar dysfunction + discussions around altered diet/ feeding routes e.g PEG
- PT and OT to extend useful motor function with appropriate exercises and walking aids
- Respiratory and palliative care physicians facilitating decisions regarding ventilatory support

Symptom control:
baclofen for spasticity
antimuscarinics for excessive saliva
benzodiazepines for breathlessness

Advanced directives and end of life care

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84
Q

diagnosis of motor neuron disease

A

may be diagnosed from clinical history and examination by a specialist
- should be a diagnosis of exclusion (exclude reversible causes e.g. structural lesion)

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85
Q

causes of peripheral neuropathy?

A

causes are rearranged depending on patient characteristics and history

congenital/ inherited: Charcot Marie Tooth, Amyloidosis

Metabolic/ endocrine: DM, Chronic renal failure, B12 deficiency, hypothyroidism

Neoplastic: anti-Hu antibody associated sensory neuropathy (more sensory)

Inflammatory/ Infectious: GBS/ CIDP, Sjogren’s syndrome, HIV

Human activity: drugs: cisplatin, vincristine, taxol, thalidomide, pyridoxine, isoniazid (S>M), chloroquine, toxins (alcohol, lead)

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86
Q
A

Charcot Marie Tooth
aka
Hereditary motor and sensory neuropathy

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87
Q

what is Charcot Marie Tooth disease?

A

autosomal dominant condition
- causing mixed motor and sensory neuropathy
- typically with deformities such as pes cavus

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88
Q

pathophysiology of charcot marie tooth disease?

A

affects peripheral nerves! both sensory and motor nerves are affected

usually hereditary, many genes are implicated

usually demyelinating or axonal

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89
Q

most common subtypes of charcot marie tooth

A

CMT 1
most commonly due to duplication of the PMP22 gene on chromosome 17
- demyelinating
- NCS will show slowed conduction

CMT2: axonal
- most commonly due to mitofusin 2 mutations
- NCS will show reduced amplitudes

CMT type 4: autosomal recessive
CMT X: X linked mutation (Males > females affected), can be axonal or demyelinating

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90
Q

features of charcot marie tooth disease?

A

progressive distal weakness that extends proximally
- LMN pattern: wasting, hyporeflexia

-> may lead to foot drop and high stepping gait
-> pes cavus and hemmer toes
-> clawing of hands
-> inverted champagne bottle appearance due to wasting of calf muscle
-> palpable thickened nerves (elbow, tibia, thigh)

91
Q

investigations of charcot marie tooth disease?

A

family history and genetic testing

nerve conduction studies:
reduced velocity -> demyelinating
reduced amplitude -> axonal loss

nerve biopsy:
onion peel appearance. repeated demyelination and remyelination of enlarged nerve fibres

rule out other causes of peripheral neuropathy:
e.g. screen for DM HbA1c, B12 deficiency
LP to look for evidence of CIDP

92
Q

management of charcot marie tooth disease?

A

genetic counselling

to treat the disease: supportive, no cure

MDT: PT OT podiatry/ orthotics, e.g. for walking aids, braces
orthopaedic surgery - may be required to stabilize foot/ joint

93
Q

peripheral neuropathy:
which causes mainly cause axonal loss and what is the significance of this?

A

axonal loss
means usually affect sensory/ autonomic nerve fibres first (autonomic fibres are unmyelinated, and sensory nerves have unmyelinated sections unlike motor nerves)

DM
Alcohol
B12 deficiency
chemotherapy
hypothyroidism
HIV

more rare
critical illness polyneuropathy
uraemic polyneuropathy
paraproteinaemia
paraneoplastic

-> would cause more sensory symptoms than motor (ie. parasthesiaes/ numbness)

94
Q

peripheral neuropathy:
which causes mainly cause demyelination and what is the significance of this?

A

demyelination means that motor neurons tend to be affected first

causes:
GBS
CIDP
Charcot marie tooth

95
Q

Ix in peripheral neuropathy?

A

Blood tests: screen for reversible (and diagnose) underlying cause
HbA1c
TFT
B12
Renal panel (urea)

Lumbar puncture: may be useful if considering GBS/ CIDP

Nerve conduction studies: can be useful to determine if polyneuropathy due to axonal (reduced amplitude) or demyelinating (slower conduction) injury

96
Q

pathophysiology of Guillain Barre syndrome?

A

acute inflammatory demyelinating polyneuropathy

usually triggered by infection e.g. campylobacter jejuni, EBV/ CMV

due to molecular mimicry -> antibodies against these infectious agents cross react with gangliosides displayed on nerve cells -> immune mediated attack on either schwann cell or axon

97
Q

typical history of guillain barre syndrome?

A

preceding infectious illness followed by onset of distal sensory loss 1-2 weeks later (symptoms usually peak within 2-4 wks followed by gradual recovery)
-> sensory loss may progress and spread proximally

motor involvemeny may occur

98
Q
A
99
Q

Ix of guillain barre syndrome

A

to diagnose:
clinical diagnosis
supported by

  • nerve conduction studies: slowed conduction velocities with prolonged F wave and distal latencies (demyelination)
  • LP: raised protein, normal cell count
  • FVC: <20ml/kg or NIF <-20 to 30-> may require ventilation
100
Q

management of Guillain Barre syndrome

A

of the disease:
IVIG
plasma exchange

management of complications:
respiratory failure: ventilatory support in ICU
autonomic instability: may need inotropic support
impaired swallowing: tube feeding

PTOT

101
Q

poor prognostic factors of Guillain Barre Syndrome?

A
  • IgG and GM1 ganglioside antibodies
  • axonal involvement
  • advanced age
102
Q

which antibodies may follow CMV infection producing guillain barre syndrome

A

anti-GM2 ganglioside antibodies
-> associated with a predominantly sensory neuropathy

103
Q

prognosis in guillain barre syndrome?

A

80% recover
15% some residual neurological disability
5% die

Complications usually arise from respiratory failure, cardiac dysrhythmias and labile BP

104
Q

what is miller fisher syndrome?

A

Triad of ataxia, areflexia and ophthalmoplegia causing a proximal/ descending pattern of nerve involvement.

105
Q

what antibodies are implicated in miller fisher syndrome

A

IgG anti-GQ1b ganglioside antibodies are found in 90– 95% of patients.

106
Q

what is CIDP?

A

relapsing and remitting nerve dysfunction causing sensorimotor disturbance (peripheral neuropathy pattern)

cause is not fully understood. felt to be immune mediated
no clear infectious trigger

107
Q

ix of Chronic inflammatory demyelinating polyneuropathy?

A

diagnosis requires evidence from NCS of demyelination in at least 2 nerves

LP: CSF protein level may be high, WCC normal

Nerve roots may be enlarged or enhance with gadolinium on MRI.

108
Q

management of chronic inflammatory demyelinating polyneuropathy?

A
  • steroids
  • IVIG
  • cyclophosphamide
  • plasma exchange
109
Q

relation between CIDP and multifocal motor neuropathy?

A

multifocal motor neuropathy is a variant of CIDP
- which affects men > women
- associated with anti-GM1 ganglioside antibodies

110
Q

paraneoplastic cause of peripheral neuropathy?

A

anti-Hu antibody may cause sensory peripheral neuropathy (usually axonal loss)

111
Q

anti-hu associated sensory neuropathy linked to which most common cancer?

A

limited stage small cell lung cancer

112
Q

causes of mononeuritis multiplex?

A

Common:
Connective tissue diseases: SLE, rheumatoid arthritis, Sjogrens (less common)
Vasculitis: polyarteritis nodosa, granulomatosis with polyangiitis (less common)
Diabetes mellitus

Less common:
amyloidosis
cryoglobulinaemia
infections; HIV, Lyme disease, Leprosy
Sarcoidosis

113
Q

investigations to perform for any nerve disease (poly or mononeuropathies)?

A

Nerve conduction studies:
helpful in delineating type of nerve damage e.g. axonal or demyelinating

EMG: useful in motor neuropathy as muscle will demonstrate change secondary to denervation or conduction block

nerve biopsy: reserved for when other diagnostic options have failed
- usually from a sensory nerve identifiably and recently affected, or from a nerve that will not cause major disability when damaged, such as the sural nerve

imaging:
- to identify focal nerve damage, particularly in sites less amenable to neurophysiology or biopsy such as the brachial plexus

114
Q

investigations for mononeuritis multiplex?

A

usually nerve conduction studies

if necessary, nerve biopsy

115
Q

management of mononeuritis multiplex?

A

treat the underlying cause

116
Q

features of leprosy

A
  • skin: usually hypoaesthetic well demarcated and hypopigmented lesions
  • may see collapsed nasal bridge
  • thickened peripheral nerves
  • crippling of hands/feet due to paralysis
117
Q

management of leprosy?

A

multi drug therapy for 1-2 years

usually with rifampicin, dapsone, clofazimine

118
Q

in a patient with LMN pattern of proximal weakness, and normal sensation, what examination would you perform to differentiate between the likely causes?

A

need to differentiate between myopathy, myasthenia gravis and Motor neuron disease

look for signs of MG:
fatiguability -> examine eyes for ptosis.
involvement of bulbar, ocular weakness (complex ophthalmoplegia)

signs of MND:
examine the tongue for wasting/ fasciculations
examine for fasciculations in exposed muscle groups
mixed UMN/LMN signs
bulbar weakness

looking for myopathy bit more tricky and likely need to work through check list of potential causes of myopathy to look for signs

119
Q

features of myasthenia gravis?

A

Typified by ‘fatigable’ muscle weakness:
◆ Muscle weakness becomes more prominent with repetitive muscle contraction.
◆ Symptoms become more obvious as the day progresses.

May be localised:
◆ Commonly to eyes, bulbar muscles or both (oculobulbar myasthenia).
◆ Causes fatigable ophthalmoplegia (resulting in diplopia), ptosis, dysarthria and dysphagia.
◆ Weight loss is a common sequel of bulbar involvement

May be generalised:
◆ Affecting limb muscles and leading to respiratory compromise.
◆ May cause ‘myasthenic crisis’ where emergent respiratory support is required.

120
Q

pathophysiology of myasthenia gravis

A

autoimmune disorder
- igG antibodies against the acetylcholine receptor
- 20-25% of patients are anti-AChR antibody negative
- >50% of seroneg MG patients have IgG antibodies to muscle specific kinase (MusK)

121
Q

treatment of myasthenia gravis?

A

acetylcholinesterase inhibitor e.g. pyridostigmine
-> cholinergic side effects such as diarrhoea may be managed with propantheline bromide

immunomodulation to reduce AChR antibody production
-> low dose steroids prednisolone if mild disease
-> may have to add on other steroid sparing agents in more severe disease e.g. methotrexate, azthioprine, MMF, ciclosporin, rituximab

Acute severe myasthenic crises:
IVIG is mainstay of treatment.
Plasmapheresis has not been found to be superior to IVIG

122
Q

IX of myasthenia gravis?

A

Bedside:
monitor Forced vital capacity and negative inspiratory force
ice pack test

To diagnose:
blood tests for Anti-AChR and anti-MuSK Ab
electrodiagnostics: single fibre EMG with repetitive nerve stimulation test

Screen for complications e.g. thymoma
Imaging:
CT chest to screen for thymoma
MRI of the cranium and orbits may also be performed to exclude compressive and inflammatory lesions of the cranial nerves and ocular muscles.

Treatment planning
e.g. if planning immunosuppression
may need to screen for Hep B/ Hep C/ HIV

123
Q

features of Lambert-Eaton myasthenic syndrome?

A

rare autoimmune disorder
antibodies against VGCC impairing release of acetylcholine by the presynaptic terminal of the NMJ

  • typically proximal weakness and fatigue
  • weakness is often relieved temporarily after exertion (improvement of power on repeated hand grip)
  • associated with underlying malignancy in 60% most commonly SCLC
  • assoc with disruption of autonomic nervous system function
124
Q

treatment of lambert eaton myasthenic syndrome?

A

treatment of underlying malignancy if present often relieves symptoms

other treatments used include steroids, azathioprine, IVIG, pyridostigmine and 3,4-diaminopyridine

125
Q
A

Facioscapulohumeral dystrophy

“curious” scapula

during active arm abduction, the abnormal scapula internal rotates and becomes winged. the upper border of the scapula produces an abnormal appearance of the neck

126
Q

features of facioscapulohumeral dystrophy?

A

LMN proximal weakness without sensory loss. usually asymmetrical

facial weakness precedes upper limb (shoulder) girdle weakness:
e.g. whistling, using straw, inflating balloons, closing eyes during sleep, smiling

shoulder girdle weakness:
- scapula winging
- difficulty in raising arms beyond shoulder height (abduction)

abdominal weakness:
protuberant abdomen, exaggerated lumbar lordosis

often also get distal weakness in LL with foot drop

proximal leg weakness is a late feature

symptoms usually develop in early adulthood

127
Q

pathophysiology of facioscapulohumeral dystrophy

A

autosomal dominant inheritance
associated with truncation of non coding region of chromosome 4

–> protein produced toxic to muscle cells
-> leading to muscle degeneration and fat infiltration of skeletal muscle

128
Q

beevor sign in facioscapulohumeral dystrophy?

A

movement of naval towards head when flexing neck

due to weaker lower abdominal muscles compared to upper abdomen

129
Q

signs of facioscapulohumeral dystrophy?

A
  • weakness in facial muscles (LMN)
  • winging of scapula
  • arm abduction with “curious scapular”
  • beevor sign: weak lower abdominal muscles
  • weakness in shoulder girdle muscles
  • may have foot drop
130
Q

investigations of facioscapulohumeral dystrophy?

A

for diagnosis:
based on history and exam, family history

genetic testing that identifies mutation in one of the genes regulating DUX4 expression for definitive diagnosis

other tests to support or help to rule out other similar appearing conditions:
- CK: should be normal-midly elevated not sky high
- EMG: can show nonspecific signs of muscle damage or irritability
- nerve conduction study: should be normal in a myopathy (if abnormal would point towards neuropathy)
- muscle biopsy: rarely indicated. findings in FSHD are non specific
- MRI can help visualize fatty infiltration of muscles, and muscle oedema. can help differentiate FSHD from other muscle diseases on the basis of pattern of muscles involved

131
Q

management of facioscapulohumeral dystrophy?

A

generally supportive, no cure

MDT approach:
PTOT: gentle stretching and light exercises to preserve muscle flexibility and strength
- using assistive devices such as walking aids or mobility aids to reduce risk of falls and preserve independence

scapular fixation surgery can be considered to improve shoulder function and range of motion

Genetic counselling

Psychosocial support

132
Q

screening and monitoring for complications associated with facioscapulohumeral dystrophy?

A
  • dilated eye exam to look for retinal abnormalities. may need yearly evaluation by retinal specialist
  • hearing test to look for hearing loss
  • pulmonary function tests
  • may have arrhythmias but no need routine screening unless develop symptoms (can just do ecg baseline)
133
Q

pathophysiology of becker’s muscular dystrophy?

A

X linked recessive condition causing dystrophin gene mutation
-> dystrophin stabilizes muscle cell membrane. loss of dystrophin causes
-> muscle fibres undergo necrosis and are ultimately replaced with adipose and connective tissue

  • same as Duchenne’s but beckers has a less severe reduction in dystrophin correlating with reduced severity of phenotype
134
Q

features of Becker muscular dystrophy

A

usually age 8-25 years onset

progressive muscular wasting and weakness
calf muscle pseudohypertrophy
waddling gait
may present with dilated cardiomyopathy and arrhythmias

later symptoms;
respiratory failure
wheelchair bound
scoliosis

135
Q

Investigations in Becker muscular dystrophy?

A

raised CK

Genetic testing: mutations in dystrophin gene

EMG

muscle biopsy: stain for dystrophin

136
Q

management of Becker muscular dystrophy?

A

no cure, treatment generally supportive

MDT:
PTOT

Genetic counselling

137
Q

features of limb girdle muscular dystrophy?

A

multiple gene and proteins identified
all show similar distribution of muscle weakness, usually proximal limb weakness and wasting

later might develop complications of cardiomyopathy, respiratory failure, dysphagia

138
Q

ix of limb girdle muscular dystrophies?

A

to diagnose:
- CK: usually elevated
- take family history
- genetic testing

139
Q

management of limb girdle muscular dystrophy?

A

refer to neuromuscular specialist

MDT approach:
PTOT
psychosocial support
cardiology and respiratory for cardio/resp complications

genetic counselling

140
Q

congenital/inherited causes of proximal LMN pattern of weakness with no sensory involvement

A

muscular dystrophies:
myotonic dystrophy
facioscapulohumeral dystrophy
becker’s dystrophy
limb girdle muscular dystrophy

141
Q

metabolic/endocrine causes of proximal myopathy?

A

hyperthyroidism/hypothyroid
cushings syndrome
vit D deficiency

142
Q

neoplastic causes of proximal myopathy without sensory involvement

A

dermatomyositis

143
Q

inflammatory/infectious causes of proximal myopathy?

A

polymyositis
dermatomyositis

144
Q

drug causes of proximal myopathy

A

colchicine
statin
fibrates
telbuvidine

145
Q

UMN pattern of weakness, with abnormal sensation, associated with a sensory level

A

transverse myelitis
myelopathy due to spinal cord lesion/ischaemia

146
Q

features of transverse myelitis

A

weakness and numbness of limbs with sensory level.
most commonly thoracic segment lesion -> UMN in the lower limbs, spastic paraparesis

dysfunctional urethral and anal sphincter-> incontinence
dysfunction of autonomic nervous system -> high BP

if upper cervical segment of spinal cord is involved, all 4 limbs may be affected, with risk of respiratory failure

147
Q

pathophysiology of transverse myelitis

A

inflammation of spinal cord
- extends horizontally throughout the cross section of the spinal cord
- > affects all the structures, like corticospinal tract, dorsal columns, spinothalamic tract, ant horn cells, spinocerebellar tract

exact cause is unknown
can be triggered by infection (viral, bacterial infection) or autoimmune (MS)

148
Q

ix of transverse myelitis

A

to diagnose:
MRI spine (hyperintense signal on T2)

Lumbar puncture can help to rule out other causes:
CSF- pleocytosis, may have high IgG

149
Q

treatment of transverse myelitis?

A

to reduce inflammatory reaction:
1st line: high dose corticosteroids
2nd line: plasmapheresis

150
Q

UMN pattern of weakness with abnormal sensation (glove and stocking distribution) -> causes?

A

cervical myelopathy
medical myelopathy (e.g. B12 deficiency SCDC, neurosyphilis)

151
Q

pathophysiology of subacute combined degeneration of the cord

A

degeneration of the dorsal columns and lateral corticospinal tracts as a result of b12 deficiency

152
Q

features of subacute combined degeneration of the cord on examination?

A

bilateral spastic paraparesis
reduced light touch, vibration and propioception
pain sensation intact
positive babinski sign

153
Q

features of cervical myelopathy?

A

depends on which level of spinal cord affected

usually
UMN signs - hyperreflexia, spastic weakness, hypertonia, pathological reflexes including Hoffman’s and Babinskis sign
can also have LMN signs at the level of the spinal cord compromise

sensory deficits
bowel/bladder symptoms
erectile dysfunction

154
Q

causes of myelopathy?

A

congenital/ inherited: adrenoleucodystrophy, spinocerebellar degeneration, chiari malformation

metabolic/endocrine: SACD from B12 deficiency

neoplastic/paraneoplastic: primary or secondary

vascular/ degenerative: dural fistulae, spinal infarct, cervical spondylosis, rheumatological disease e.g. AS

inflammatory/ infectious: MS, NMO (including anti-MOG), epidural abscess, spinal TB, tabes dorsalis, HIV

human activity: trauma, iatrogenic

155
Q

if not clear whether its UMN/ LMN what in the power can help?

A

pyrimadal pattern of weakness
e.g. hip flexion < extension, dorsiflexion< plantarflexion, abduction < adduction of hip, knee flexion < extension

156
Q

abnormal inverted supinator reflex - what pathology

A

C6 pathology

157
Q

c6 myelopathy features

A

weakness of brachioradialis, biceps and deltoid
loss of biceps reflex
inverted supinator reflex

158
Q

features of hereditary spastic paraplegia

A

progressive stiffness and spasticity in the lower limbs
- due to destruction of axons in the spinal cord (primary motor neurons -> hence UMN disease)

sensory normal
bowel / bladder normal

159
Q

management of hereditary spastic paraplegia?

A

baclofen to manage symptoms of spasticity

160
Q

what is spinocerebellar ataxia?

A

a progressive degenerative genetic disease
- characterized by slowly progressive gait ataxia, poor coordination of hands, speech, eye movements
- frequently results in cerebellar atrophy leading to cerebellar signs

*Friedreich ataxia is a subtype but not common in asia
many subtypes -> just do genetic testing

161
Q

features of spinocerebellar ataxia on examination?

A

UMN pattern
ataxia
cerebellar signs

162
Q

ix of optic neuropathy?

A

depends on most likely underlying cause suspected

ask for further history of previous optic neuritis or myelitis

but should image MRI orbits to exclude compressive lesion

163
Q

pathophysiology of multiple sclerosis?

A

autoimmune inflammatory condition in which lymphocytes attack and damage oligodendrocytes
-> demyelination of the CNS and optic nerves, which have oligodendrocyte-derived myelin, but does not affect the other cranial and peripheral nerves that have schwann cell myelin

T cells and macrophages infiltrate lesions, with demyelination and subsequent remyelination
-> leading to clinical pattern of relapse and remission

when axonal degeneration supervenes, a progressive pattern of disability emerges

164
Q

any risk factors for Multiple sclerosis?

A

cigarette smoking
association with EBV infection

genetic:
female gender
increased risk in family members

165
Q

features of multiple sclerosis?

A

commonest presenting syndrome: optic neuritis (painful, acute monocular visual loss with loss of colour vision)

other common manifestations:
spinal cord syndromes
ataxia
diplopia
hemiparesis
vertigo

assoc uthoff’s phenomenon (worse symptoms with heat)
Lhermitte’s phenomenon (tingling down spine and arms on neck flexion)

166
Q

different temporal patterns in multiple sclerosis?

A
  1. relapsing-remitting: characterised by episodes of acute neurological deterioration with subsequent recover
  2. secondary progressive multiple sclerosis, gradual decline without discrete relapse episodes
  3. primary progressive MS (<10%): progressive neurological decline without any history of relapses
  4. relapsing-progressive MS: relapses superimposed upon gradual progression
167
Q

diagnosis of multiple sclerosis?

A

clinical diagnosis: clinical events disseminated in time and space

supported by results of:
1) imaging: MRI being 1st line
2) CSF: 85% oligoclonal bands
3) neurophysiological e.g. visual evoked potentials

168
Q

management of multiple sclerosis?

A

infection may trigger relapses or cause deterioration of pre-existing symptoms.

active infection should be excluded and treated before specific MS treatment is commencced. e.g. UTI - very common ivo freq bladder dysfunction in MS

MS specific treatment:
- IV methylprednisolone 1g daily 3 days may speed the rate of recovery from an acute relapse

  • DMARDS
  • Symptomatic treatment

MDT approach involving neurologist, PT OT ST
- to maintain mobility
- walking aids
- graded exercise programmes

169
Q

symptomatic treatment for MS:
treatmets for spasticity?

A

PT: maintain range of movement and reduce spasms

Baclofen, gabapentin; Benzodiazepines e.g. diazepam/ clonazepam: -> promote muscle relaxation

Botulinum toxin

Cannabinoid preparations e.g. nabiximols: only licensed for patients in whom multiple other agents have failed

170
Q

symptomatic treatment for MS patients with bladder and bowels symptoms including urgency, frequency, incontinence, retention and constipation?

A

Anticholinergic drugs e.g. oxybutynin, solifenacin -> improve symptoms of over activity

urinary cathterisation: intermittent self catheterisation or long term catheters in patients with incomplete voiding which can lead to frequent UTIs

intravesicle botulinum toxin injections: may be combined with intermittent self catheterisation for very problematic bladder overactivity

171
Q

DMARDs for multiple sclerosis

A

IFN beta (sc/IM): reduce annual relapse rate by 1/3

Glatiramer acetate (sc injection): reduce relapses requiring hospital admission by 50%

Oral:
- Fingolimod
- Teriflunomide
- Dimethyl fumarate

Monoclonal antibody infusion:
- Natalizumab (against A4-integrin): reduces relapse by 68%
- Alemtuzumab (against CD52): reduces relapse rate by 70%

172
Q

Counselling pregnant patient with multiple sclerosis?

A
  • decreased rate of relapse in 1st and 2nd trimester
  • increased rate of relapse in 3rd trimester and post partum
  • corticosteroids can be used to treat relapses
  • minimal evidence exists about safety of DMARDS and these are often suspended during pregnancy
173
Q

What is Neuromyelitis optica?

A

autoimmune disease
characterized by acute inflammation of the optic nerve and spinal cord

assoc with severe often bilateral optic neuritis
spinal cord syndrome with longitudinally extensive transverse myelitis
- can be simultaneous or successive

bladder/ bowel dysfunction may occur

174
Q

ix in neuromyelitis optica?

A

antibodies against aquaporin 4 (IgG)
anti- myelin oligodendrocyte glycoprotein (MOG) antibodies may account for some aquaporin seronegative cases

MRI brain/ spinal cord

LP: <30% of patients will have oligo clonal bands. 30% may have high WBC >50

175
Q

management of neuromyelitis optica

A

steroids in acute attacks e.g. IV methylprednisolone
+/- plasmapheresis

symptom management

relapse prevention
steroid sparing agents e.g. azathioprine, MMF
cyclophosphamide, rituximab
monoclonal antibodies e.g. eculizumab targetting C5, inebilizumab targeting CD 19, satralizumab targeting IL 6R

important to note that certain immunosuppressants used to treat MS - such as IFN-beta, fingolimod, natalizuman, alemtuzumab worsen NMO disease progression and should not be used to treat NMO

176
Q

pathophysiology of neuromyelitis optica?

A

majority - antibodies against Aquaporin 4
-> which causes astrocyte injury and loss

177
Q

lesions in Multiple sclerosis vs NMO?

A

MRI orbits: usually long sergment involved in NMO compared to MS

MRI spine: typically long lesion >/= 3 vertebral segments in NMO compared to MS (</=2 segments)

178
Q

what is anti-MOG syndrome or MOGAD: MOG antibody disease

A

inflammatory demyelinating disease of the CNS

  • associated with serum anti-myelin oligodendrocyte glycoprotein antibodies (MOG)
  • oligodendrocytopathy
179
Q

differential of optic neuritis?

A
  • multiple sclerosis
  • AQP4 +ve NMO
  • MOG related inflammation
  • Inflammatory / autoimmune: sarcoid, lupus, granulomatosis with polyangiitis
  • Infectious: Lyme, syphilis, TB
  • Idiopathic
180
Q

features of MOG related disease?

A

F:M 1:1
- may present with optic neuritis, acute disseminated encephalomyelitis, transverse myelitis, NMOSD

181
Q

ix of MOG related disease?

A

anti-MOG antibody

LP: <5% will have oligoclonal bands in CSF, 25-50% may have raised WBC > 50

182
Q

prior to starting immunosuppression or high dose steroids, what are some investigations to be done?

A

infections: screen pTB, Hep B/ C

vaccinations: flu yearly, pneumococcaly 5 yearly, covid vaccination
Contraception advice for immunosuppressives

Steroids:
Bone mineral density + vit D - risk of osteoporosis
peptic ulcer disease
K replacement
Acne
Cataracts + raised IOP
DM and HTN

183
Q

binocular visual blurring - first question to ask?

A

does the blurring improve when you close one eye?

if so -> dealing with diplopia

184
Q

features of cavernous sinus syndrome?

A

CN III, IV, VI
+ V1, V2
+ Horners syndrome may be involved
+ may be painful

185
Q

features of superior orbital fissue syndrome?

A

CN III, IV, VI
+ V1

186
Q

features of orbital apex syndrome?

A

CN III, IV, VI
+ V1
+ Cranial nerve 2!

187
Q

potential causes of orbital apex pathology?

A

inflammatory/ infectious:
GCA/takayasu, granulomatosis with polyangiitis, igG4, sarcoidosis
infections e.g. bacterial parasinus infections, TB, fungal sinusitis, cysticercosis (parasites), zoster virus

vascular: ICA aneurysm, carotido-cavernous fistula

neoplastic: mass lesion can be primary or secondary lesion at orbital apex

metabolic/ endocrine: thyroid eye disease

188
Q

any ophthalmoplegia seen on examination, what do you need to do?

A

rule out myasthenia gravis, muscle disorder (e.g. thyroid eye disease)

CN problem?

189
Q

painful isolated CN III palsy with dilated pupil?

A

posterior communicating artery aneurysm unless proven otherwise

190
Q

Bilateral ptosis -> what to examine for next?

A

are pupils involved?

if pupils involved -> suggestive of CNIII palsy and can rule out myopathy/ myasthenia gravis

191
Q

bilateral ptosis -> normal pupils -> what to examine for next?

A

EOM

-> if EOM affected, may be bilateral CN III

192
Q

bilateral ptosis with normal EOM and normal pupils, what to examine for next?

A

fatiguability to suggest myasthenia gravis

grip myotonia and percussion myotonia to suggest myotonic dystrophy

193
Q

what pathology may cause bilateral ptosis due to bilateral CN III involvement?

A

GBS/ Miller Fisher syndrome

Midbrain: nuclear III

194
Q

what cranial nerves are implicated in jugular foramen pathology?

A

CN IX, X, XI

195
Q

what cranial nerves are implicated at cerebellopontine angle

A

Usually CN VIII first - sensorineural hearing loss with tinnitus
lower motor neuron CN VII palsy
CN V - facial sensory loss

196
Q

any cranial nerve pathology: how to evaluate for brainstem pathology?

A

look for long tract or cerebellar signs

-> do pronator drift
-> babinskis
-> dysdiadochokinesia/ dysmetria

if lesion in midbrain (affects CN III, IV): look for vertical gaze abnormalities as well

if lesion is in pons (CN V, VI, VII, VIII): look for horizontal gaze abnormalities

if lesion is in medulla (CN IX, X, XI, XII): look for horner’s (lat medullary syndrome)

197
Q

any cranial nerve pathology: how to screen and evaluate for meningeal/ skull base disorder

A

think of acute/chronic meningitis
think of base of skull pathology e.g. NPC, radiation

any headache?

any epistaxis/ lymphadenopathy?

neck stiffness?

198
Q

any cranial nerve pathology: how to evaluate and screen for peripheral neuropathy

A

evaluate for weakness with usually glove and stocking sensory loss suggestive of GBS,
areflexia, incoordination

199
Q

any cranial nerve pathology, think about cranial nerve clubs such as?

A

cavernous sinus - CN III, IV, VI, V1/2
orbital apex - involves 2 along with the above
jugular foramen - 9, 10, 11
cerebellopontine angle - VIII + VII/ V

200
Q

systemic approach to falls

A

first order gait control structures: examine for weakness/ numbness
muscle
NMJ
peripheral nerve
anterior horn cell

2nd order gait control structures: examine for ataxia
cervical myelopathy
cerebellar ataxia
bilateral severe vestibulopathy

3rd order gait control structures:
parkinsonism
gait apraxia

201
Q

cerebellar eye signs?

A

gaze evoked nystagmus
down/ upbeat nystagmus
saccadic dysmetria (“past pointing” of the eyes. goes past midpoint before coming back to the middle)
saccadic pursuit (jerky pursuit)

202
Q

patient with parkinsonism what to examine for?

A

1: demonstrate bradykinesia, cogwheel rigidity, resting tremor
- tremor on general inspection
- tone for cogwheel rigidity
- bradykinesia: use hand movements
- face: hypomimia
- gait: small shuffling gait, reduced arm swing

should also demonstrate that power is full, sensation normal

2. Test for parkinsons plus
eyes: for vertical gaze palsy, cerebellar eye signs (MSA)
cerebellar signs: MSA
check for limb apraxia ie. opening jars: corticobasal degeneration

3. offer:
autonomic signs: postural hypotension, urinary incontinence, impotence
in a young patient: look for KF rings in the eyes
cognitive history
ask for other complications of parkinsons: sleep/ mood

203
Q

patient with parkinsonism: what to ask for to complete your examination

A

drug history, family history, liver disesase (wilson disease)
falls, autonomic symptoms
hallucinations (DLB)
hx of hypoxic cerebral injury/ encephalitis/ osmotic demyelination
mental state examination for cognitive impairment
response to madopar
occupational exposure: manganese mine

204
Q

in parkinsonism, what additional things to assess for after confirming the patient has parkininson’s?

A

assess severity of disease
assess disability and handicap -> get MDT to assess and help alleviate
assess for complications e.g. dyskinesia, depression, behavioural issues, osteoporosis, falls, recurrent infections

and put in place pre-emptive proactive management and surveillance plan

205
Q

approach to cerebellar disorders?

A

elicit all signs in eye, limbs and speech
then

examine for underlying cause

206
Q

4 question approach to dizziness?

A
  1. vertigo or syncopal, faint like dizziness?
  2. if vertigo, are there signs and symptoms of CNS pathology or peripheral vestibular pathology?
  3. how long are the vertigo spells?
  4. is this the only episode or is it recurrent?
207
Q

ataxia -> what to differentiate between?

A

cerebellar ataxia:
look for other cerebellar signs like nystagmus, intention tremor, dysdiadochokinesia

sensory ataxia:
usually has abnormal sensory signs e.g. propioception, vibration, light touch
- sensory ataxia would be able to do finger nose test with eyes open but not with eyes closed
- need to then differentiate between central cause (e.g. myelopathy) or peripheral causes (e.g. peripheral neuropathy)

208
Q

causes of predominantly sensory peripheral neuropathy?

A

Endocrine/Metabolic: DM, Hypothyroidism, uraemia, Vit B12 deficiency

Infectious: HIV, Leprosy, Lyme disease

Inflammatory/Immune mediated: Vasculitis, Sjogrens, Amyloidosis

Neoplastic: anti Hu antibody associated sensory neuropathy

Drugs: isoniazide, pyridoxine, cisplatin

Human activity: Toxins: Alcohol

209
Q

utility of doing nerve conduction studies in peripheral neuropathy?

A

useful in delineating demyelinating from axonal causes. demyelinating tend to be more immune mediated and would require further investigations for such causes

210
Q

what is Kennedy’s disease

A

subtype of motor neuron disease

aka SBMA - Spinal and bulbar muscular atrophy

a rare adult onset X linked recessive Lower motor neuron disease caused by trinucleotide CAG repeat expansions in exon 1 of the androgen receptor gene

211
Q

perioral fasciculations?

A

think of kennedy’s disease
spinal and bulbar muscular atrophy

212
Q

Spastic paraparesis with cerebellar signs in the LL?

A

Consider
1) demyelinating disease
2) Friedrich’s ataxia
3) spinocerebellar degeneration
4) cervicomedullary junction lesion

213
Q

Spastic paraparesis, how to quickly test UL as well to localise lesion?

A

Pronator drift, tone, reflexes

1) inverted supinator reflex = absent biceps jerk, weak brachioradialis jerk, brisk finger flexion and triceps jerk: C5/6 compressive lesion

2) jaw jerk: above pons

3) tongue fasciculations: above CN XII

214
Q

Bilateral LL weakness with UMN pattern (spastic paraparesis), sensation abnormal. UL normal. Where is the lesion?

A

Between T1 and L2

215
Q

Bilateral LL weakness with UMN pattern (spastic paraparesis), sensation abnormal. UL normal. Lesion likely at T1-L2, what to examine for next?

A

Look at back
Test for sensory level
Test abdominal reflexes (T7, T10, L2)
- if absent then above T7
- if present then T7 to L2
- Beevor sign: neck flexion causes navel to move upwards, when upper abdominals stronger than lower. Can be seen in T9-10 lesion.

216
Q

prognosis of charcot marie tooth disease?

A

normal life expectency
disability varies

217
Q

investigations for a LMN pattern of proximal weakness to evaluate for myopathy?

A

Electromyogram: helpful in diagnosing muscular dysfunction
NCS: to rule out nerve dysfunction

important to rule out reversible causes (inflammatory/immune):
myositis panel e.g. anti-HMGCR
dermatomyositis/ polymyositis e.g. ENA panel
endocrine/metabolic: TFTs

Genetic testing for congenital muscular dystrophies

218
Q

unsteadiness in the stem: think about?

A

sensory ataxia
cerebellar ataxia
parkinsons

219
Q

recurrent falls: think about?

A

parkinsonism
Cerebellar ataxia

220
Q

General Neurolocalisation for weakness

A

Muscle

NMJ

Nerve

Anterior Horn Cell

Spinal cord

Subcortical/Cortical

221
Q

LMN weakness with no sensory loss, neurolocalisation

A

Muscle

NMJ

Anterior horn cell (Look for fasciculations and UMN signs)

Pure motor neuropathy

222
Q

LMN weakness with sensory loss, neurolocalisation

A

nerve problem

  • peripheral nerve distribution? radiculopathy? plexopathy?
  • don’t forget cauda equina
223
Q

UMN weakness with sensory loss, neurolocalisation?

A

spinal cord (myelopathy/ myelitis)

  • rmb to look for sensory level if any

*always remember demyelination as a cause (MS)

224
Q

UMN weakness no sensory loss, neurolocalisation?

A

Cortical/subcortical

could be Anterior horn cell: primary lateral sclerosis

hereditary spastic paraparesis

PACES 2024 (14 decks)

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