Neurology Flashcards

1
Q

What are clinical signs in the face of myotonic dystrophy? (6)

A

Myopathic facies: long, thin, expressionless
Wasting of facial muscles and SCM
Bilateral ptosis
Frontal balding
Dysarthria due to myotonia of tongue/pharynx
Myotonia of eyes

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2
Q

What are clinical signs in the hands of myotonic dystrophy? (4)

A

Myotonia
Wasting and weakness distally
Areflexia
Percussion myotonia of thenar eminence

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3
Q

What are some systemic associated findings in myotonic dystrophy? (6)

A

Cataracts
Cardiomyopathy
Brady and tachy arrhythmias - PPM
Diabetes
Testicular atrophy
Dysphagia

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4
Q

What is the underlying genetic pathophysiology of myotonic dystrophy?

A

Type 1 or 2 depending on genetic defect
DM1: CTG trinucleotide expansion within DPMK gene chromosome 19
DM2: CCTG repeat sequence ZNF9 gene chromosome 3
Shows genetic anticipation in DM1 so presents earlier 20-40s depending on number of repeats
Autosomal dominant

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5
Q

How is a diagnosis of myotonic dystrophy made? (3)

A

Clinical features
EMG: dive bomber potentials
Genetic testing

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6
Q

What is management of myotonic dystrophy? (12)

A

Mexiletine may help myotonia (caution with arrhythmia)
Modafanil for sleepiness
Advise against general anaesthetic
PPM/ICD for arrhythmias/cardiomyopthay
SLT for dysphagia +/- PEG
NIV +/- cough assist device
Surveillance for cataracts
Management of diabetes
Laxatives etc for bowels
Physio/ OT for aids
Orthotics
Palliative care input

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7
Q

What are causes of bilateral ptosis? (5)

A

Myotonic dystrophy
Myasthenia gravis
Congenital
Oculopharyngeal muscular dystrophy
Mitochondrial disease e.g. Kearns-Sayres

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8
Q

What are causes of unilateral ptosis? (4)

A

Third nerve palsy
Horners syndrome
Posterior Communicating artery aneurysm
Diabetic neuropathy

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9
Q

What are causes of complex ophthalmoplegia? (9)

A

Myaesthenia gravis
Thyroid eye disease
Myopathies e.g. oculopharyngeal muscular dystrophy
Mononeuritis multiplex eg. diabetes causing multiple CN palsies
Mitochondrial disease e.g. Kearn’s Sayres
Miller fisher syndrome
Cavernous sinus pathology
Wernickes encephalopathy
Progressive supranuclear palsy

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10
Q

What are differentials for myasthenia? (4)

A

Lambert eaton myaesthenic syndrome: antibodies to presynaptic voltage gated calcium channels
Botulism
Mitochondrial disease e.g. Kearn’s sayres
Miller fisher variant of guillain barre syndrome

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11
Q

What is the pathophysiology of myasthenia gravis?

A

acquired autoimmune disorder
Antibodies to the postsynaptic AChR of the neuromuscular junction
Thymus is involved in 75% of cases (10-15% have thymoma of which 10% are malignant, 90% have thymic hyperplasia)
50% with thymoma get myasthenia gravis
Occurs in 1 in 10000
20-35 year old females (autoimmune, thymic hyperplasia) or >50 year old men (oculobulbar, thymoma)
Affects extraocular, bulbar, facial, neck, limb and trunk muscles usually in this order
15% have pure ocular MG
20% have pure bulbar
It can be induced by penicillamine

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12
Q

What are investigations of myasthenia gravis? (7)

A

Bloods: AChR Antibodies, antistriatal muscle antibodies, anti-MUSK, TFTs, FBC+CRP, CK (normal), U+E (low K+)
Tensilon test - IV anticholinesterase injection, look for improvement in ptosis, cardiac monitoring needed for bradycardia, conduction block and asystole
Icepack test (ice is applied to the patients eyelid for 2 minutes causing ptosis to improve in MG).
Nerve conduction studies and EMG: repetitive nerve stimulation test (reduced amplitude with repeated stimulation), single fiber EMG (jitter)
Sats, ABG, spirometry (FVC)
CXR
CT/MRI thymus

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13
Q

What is the management of myasthenia gravis? (8)

A

Manage precipitant: infection, drugs, noncompliance with medication, low K+
SALT, NG/PEG feeding
Anticholinesterases (pyridostigmine)
Steroids, gastro, bone protection
Steroid sparing agents (Azathioprine, mycophenolate)
Plasmapheresis
IVIG
Surgical: Thymectomy

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14
Q

What are findings of a 3rd nerve palsy? (5)

A

Complete ptosis: compressive cause
Partial ptosis: medical cause (paralysis of LPS muscle)
Dilated pupil not reactive to direct/consensual light/accommodation (loss of parasympathetic supply)
Eye abducted and depressed (unopposed LR6, SO4)
Diplopia in all directions
Difficulty with medial and superior gaze

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15
Q

What are causes of a 3rd nerve palsy? (9)

A

Midbrain stroke
SOL
Demyelination
Posterior communicating artery aneurysm (painful)
Cavernous sinus pathology: thrombosis, internal carotid artery aneurysm, pituitary tumour
Supraorbital fissure pathology: tumour, thyroid eye disease, fracture
Orbital mass/inflammation/cellulitis
Herniation of uncus through tentorium (false localising sign)
Medical causes (spare the pupil because the parasym fibres are on the outer surface of the nerve and have their own blood supply from nerve sheath vessels): mononeuritis multiplex eg. diabetes, hypertension, vasculitis, giant cell arteritis, myaesthenia gravis, thyroid eye disease, migraine

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16
Q

What are differentials of a dilated pupil? (7)

A

3rd nerve palsy
Holmes Adie
Mydriatic eye drops
Tricyclic antidepressants
Amphetamines
phaeochromocytoma
congenital

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17
Q

What are clinical signs of cerebellar syndrome? (11)

A

Scanning dysarthria /slurred speech
Absence of rebound phenomenon
Finger nose incoordination
Intention tremor
Dysdiadochokinesia
Hypotonia
Hyporeflexia
Nystagmus
Heel shin ataxia
Foot tapping - inability to alternate movements
Wide based gait

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18
Q

What are the clinical finding difference between cerebellar vermis vs lobe lesions?

A

Vermis: ataxic trunk and gait, normal limbs
Lobe: ipsilateral cerebellar signs in limbs

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19
Q

How does direction nystagmus help identify site of lesion?

A

Cerebellar: Fast phase towards lesion
Vestibular nucleus/VIII lesion: fast phase away from lesion

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20
Q

What are causes of cerebellar syndrome? (8)

A

PASTRIES
Paraneoplastic
Alcohol
Sclerosis (MS)
Tumour (posterior fossa)
Rare: friedrichs and ataxia telangectasia
Iatrogenic: phenytoin toxicity
Endocrine: hypothyroidism
Stroke: brainstem

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21
Q

What are possible aetiological clues for causes of cerebellar syndrome on examination? (5)

A

MS: Internuclear ophthalmoplegia, spasticity, female, younger age, optic atrophy
Friedrichs ataxia: optic atrophy, neuropathy
Bronchial carcinoma: clubbing, tar stained fingers, radiotherapy scar
Alcohol: stigmata of liver disease, unkempt, neuropathy
Phenytoin: gingival hyperplasia

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22
Q

What are signs of MS? (11)

A

Wheelchair
Ataxic handshake
INO
Optic atrophy
Reduced VA
Cranial nerve palsy
Spasticity in limbs
Upper motor neurone weakness
Brisk reflexes
Altered sensation
Cerebellar signs

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23
Q

What is internuclear ophthalmoplegia?

A

Medial longitudinal fasciculus lesion
Impaired adduction of the ipsilateral eye with nystagmus of the abducting eye
Eyes can converge normally

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24
Q

What are diagnostic criteria for MS?

A

McDonald criteria
CNS demyelination causing neurological impairment disseminated in time and space

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25
What are causes of MS?
Multifactorial Genetic: HLA DR2, interleukin 2 and 7 Environment: increasing latitude EBV
26
What are investigations for MS? (4)
Exclude differentials: FBC, inflammatory markers, U&E, LFT, TFT, glucose, HIV serology, calcium and B12 levels CSF: oligoclonal IgG bands, high protein MRI: periventricular white matter plaques Visual evoked potentials: if previous optic neuritis - delayed velocity, normal amplitude NCS: demyelination in apparently unaffected pathways with characteristic delays
27
What are some none neurological clinical manifestations of MS? (6)
Depression Urinary retention / incontinence Impotence Bowel issues Uthoffs pnenomenon: worsening of symptoms after hot bath/ exercise Lhermitte’s sign: lightening pains down spine on neck flexion
28
What is treatment for MS? (12)
MDT: nurse, physio, OT, social worker, neurologist Methypred for relapse Relapsing remitting: DMARDs: interferon beta, glatiramer, Peginterferon beta-1a Monoclonal antibodies: alemtuzumab (CD52), natalizumab (a4 integrin) Fingolimod Secondary progressive: Interferon beta 1b, Siponimod Primary progressive: Interferon beta limited evidence Vitamin d Cannabinoids Anti spasmodics: baclofen Carbemazepine for neuropathic pain Laxatives Intermittent catheterisation Oxybutynin
29
What is prognosis for MS?
Majority will remain ambulant at 10 years
30
What are happens to MS in pregnancy?
Reduced relapse rate Safe for foetus - possibly reduced birth weight Increase risk of relapse in postpartum period
31
What is the difference between impairment, disability and handicap?
Impairment: arm paralysis Disability: inability to write Handicap: inability to work as an accountant as a result
32
What are clinical signs of stroke on inspection? (4)
Walking aids NG tube /PEG Posturing - flexed upper, extended lower limbs Wasting or oedema on affected side
33
What are features of tone in stroke? (3)
Spastic rigidity Clasp knife - resistance to movement then sudden release Ankles may demonstrate clonus >4 beats
34
What is the MRC grade for power?
0 - none 1- flicker 2- moves with gravity neutralised 3-moves against gravity 4-reduced power against resistance 5-normal
35
What is the pattern of weakness typically in stroke?
Extensors weaker than flexors in upper limbs Flexors weaker than extensors in lower limbs
36
What is bamford classification of stroke?
TACS: 3/3 of Unilateral weakness (and/or sensory deficit) of face, arm and leg Homonymous hemianopia Higher cerebral dysfunction (dysphasia, visuospatial disorder) PACS: 2/3 of above POCS: Cranial nerve palsy and a contralateral motor/sensory deficit Bilateral motor/sensory deficit Conjugate eye movement disorder (e.g. horizontal gaze palsy) Cerebellar dysfunction (e.g. vertigo, nystagmus, ataxia) Isolated homonymous hemianopia Lacunar: Pure sensory stroke Pure motor stroke Sensori-motor stroke Ataxic hemiparesis
37
What signs might help to identify cause of stroke? (4)
Irregular pulse for AF BP Cardiac murmurs Carotid bruits
38
What is the difference between TIA and stroke?
Deficit <24 hours in TIA
39
What is the definition of stroke?
Rapid onset, focal neurological deficit due to a vascular lesion lasting >24 hours
40
What investigations should be done for stroke? (8)
Bloods: FBC, CRP/ESR (young CVA ?arteritis), glucose, U&Es ECG: AF or previous infarction CXR: cardiomegaly or aspiration CT head: infarction or bleed, territory Echo: AF, endocarditis, MI, murmur Carotid Doppler MRI/A if concern about dissection or CVST Thrombophilia and vasculitis screen if young
41
What are causes of stroke? (6)
Ischaemic Haemorrhagic Carotid artery dissection CVST Vasculitis Thrombophilia
42
What is the management of acute ischaemic stroke? (9)
Thrombolysis with tPA within 4.5 hours Maintain homeostasis: glucose control, blood pressure, oxygen Aspirin 300mg for 2 weeks then 75 clopidogrel Longer term anti coagulation if AF Longer term statin MDT - physio, OT, SLT, psychological therapy, stroke rehab IPCs for VTE prophylaxis NG/PEG if unsafe swallow Carotid endarterectomy if good recovery and >70% stenosis
43
What are risk factors for stroke? (11)
Hypertension. Smoking. Diabetes mellitus. Heart disease (valvular, ischaemic, atrial fibrillation). Peripheral arterial disease. Post-TIA. Polycythaemia vera. Carotid artery occlusion. Combined oral contraceptive pill. Hyperlipidaemia. Excess alcohol. Clotting disorders.
44
What are differentials for a stroke like presentation acutely? (6)
hypoglycaemia TIA in the first 24 hours of stroke. Brain tumour. Subdural haematoma. Todd's palsy. acute poisoning if the patient is comatose.
45
What are dominant parietal lobe cortical signs in stroke?
Dysphasia - receptive, expressive or global Gerstmanns syndrome - dysgraphia, dyslexia, dyscalculia, left- right disorientation, finger agnosia
46
What are non dominant parietal lobe signs in stroke?
Dressing and constructional apraxia Spatial neglect
47
Which signs can be dominant or non dominant parietal lobe cortical signs in stroke?
Sensory and visual inattention Astereognosis Graphaesthesia
48
Where is the lesion if there is bitemporal hemianopia?
Optic chiasm
49
Where is the lesion if there is homonymous hemianopia ?
Optic tract - between chiasm and lateral geniculate nucleus
50
Where is the lesion if there is a homonymous quadrantopia?
Optic radiation post LGN Upper = temporal lobe Lower = parietal lobe
51
What is lateral medullary syndrome? (Wallenberg)
Posterior inferior cerebellar artery occlusion (PICA) Cerebellar signs Nystagmus Horner syndrome Palatal paralysis and decreased gag reflex Loss of Trigeminal pain and temp sensation
52
What are clinical signs of spasticity of legs? (6)
Wheelchair and walking sticks Disuse atrophy and contractures Increased tone and ankle clonus Generalised weakness Hyper reflexia and extensor plantars Scissoring gait
53
What signs may point to a cause of spasticity in legs? (4)
Sensory level suggestive of spinal legion scars on back or spinal deformity MS features - cerebellar signs, optic atrophy Bladder symptoms/ catheter/anal tone
54
What are causes of spasticity in legs? (10)
MS Spinal cord compression /cervical myelopathy Trauma Motor neurone disease Anterior spinal artery thrombosis Syringomyelia Hereditary spastic paraplegia Subacute combined degeneration of cord Friedreichs ataxia Parasagittal falx meningioma
55
What can be causes of cord compression? (4)
Disc prolapse above L1/L2 Malignancy Infection - abscess or TB Trauma - # vertebra
56
What movements are done by which lumbo-sacral root levels?
L2/3 - hip flexion L3/4 - knee extension (knee jerk reflex) L4/5 - foot dorsiflexion L5/S1 - knee flexion and hip extension S1/S2- foot plantar flexion (ankle jerk reflex)
57
Which dermatome covers medial lower leg?
L4
58
Which dermatome covers knee?
L3
59
Which dermatome covers lateral foot and lower leg posteriorly?
S1
60
Which dermatome covers anus?
S2-4
61
What are signs of syringomyelia? (8)
Weakness and wasting of small muscles of hand Loss of reflexes in upper limbs Dissociated sensory loss in upper limbs and chest - loss of pain and temp with preservation of vibration Scars from painless burns Charcot joints - elbow and shoulder Pyramidal weakness in lower limbs with upgoing plantars Horners syndrome If syrinx extends to brain stem - cerebellar/cranial nerve signs
62
What is syringomyelia?
Progressively expanding fluid filled cavity in cervical cord Typically spans several levels Associated with Arnold chiari malformation and spina bifida
63
Which spinal cord tracts are usually affected by syringomyelia? (3)
Decussating spinothalamic neurones: pain and temp loss at level of syrinx Anterior horn cells: LMN weakness at level of syrinx Corticospinal tract: UMN weakness below syrinx
64
What is a Charcot joint?
Painless deformity and destruction of joint with new bone formation following repeated minor trauma secondary to loss of pain sensation
65
What are important causes of Charcot joint? (3)
Tabes dorsalis: hip and knee Diabetes: foot and ankle Syringomyelia: elbow and shoulder
66
Which cervical/thoracic roots are responsible for movements of upper limbs?
C5/6 - elbow flexion and supination (biceps and supinator jerk) C7/8 - elbow extension (triceps jerk) T1 - finger adduction
67
Which dermatome covers thumb?
C6
68
Which dermatome covers middle finger?
C7
69
Which dermatome covers little finger?
C8
70
What are signs of motor neurone disease? (6)
Wasting and fasciculation including tongue Spastic and or flaccid tone Weakness Absent and or brisk reflexes Sensory exam normal Bulbar or pseudo bulbar speech
71
What is the difference between bulbar and pseudobulbar speech?
Bulbar: LMN lesion, nasal, Donald duck speech, due to palatal weakness Pseudobulbar: UMN, hot potato speech, due to spastic tongue
72
What is MND?
Progressive neurological condition causing weakness of unknown aetiology Axonal degeneration of upper and lower motor neurones
73
What are causes of bulbar palsy? (7)
Botulism MND MG Lyme disease Guillain barre Poliomyelitis Acute intermittent porphyria
74
What are causes of pseudobulbar palsy? (4)
MND CVA of internal capsule or high brainstem Parkinsons /PSP MS
75
What are different types of MND? (3)
ALS: affects cortico spinal tracts, predominantly spastic paraparesis Progressive muscular atrophy: anterior horn cells, predominantly wasting, fasciculations and weakness, best prognosis Progressive bulbar palsy: lower cranial nerves, suprabulbar nuclei, speech and swallowing issues, bad prognosis
76
What are investigations for MND? (3)
Clinical diagnosis EMG: fasciculations MRI brain and spine: exclude other differentials of cord compression, myelopathy and brain stem lesions
77
What is treatment for MND? (3)
Supportive: PEG, NIV MDT Riluzole slows progression by 3 months
78
What is prognosis of MND?
Most die within 3 years of diagnosis from pneumonia and resp failure Worst if elderly, female, bulbar involvement
79
What are differentials for generalised wasting of hand muscles? (4)
Anterior horn cell: MND, Syringomyelia, cervical cord compression, polio Brachial plexus: cervical rib, Pancoast tumour, trauma Peripheral nerve: combined median and ulnar nerve lesions, peripheral neuropathy Muscle: disuse atrophy eg RA
80
What is fasciculation?
Visible muscle twitching at rest Caused by axonal loss resulting in surviving axons recruiting and innervating more myofibrils than usual resulting in large motor units Seen in MND and Syringomyelia
81
What are clinical signs of Parkinson’s? (7)
Expressionless face with absence of spontaneous movements Coarse, pill rolling 3-5Hz tremor, usually asymmetrical Bradykinesia Cogwheel rigidity at wrists enhanced by synkinesis Shuffling and festinant gait Absent arm swing - asymmetrical Slow faint and monotonous speech
82
What are some additional signs in Parkinson’s that might signify Parkinson’s plus syndromes? (4)
BP: evidence of MSA, postural hypotension Cerebellar signs: MSA Vertical eye movements: PSP lack of upgaze Dementia: lewy body
83
What are causes of Parkinson’s? (8)
Parkinsons disease: idiopathic MSA PSP Corticobasal degeneration Drug induced Anoxic brain damage Post encephalitis MPTP toxicity - frozen addict syndrome
84
What is the pathology of idiopathic Parkinson’s disease?
Degeneration of dopamingeric neurones between substantia nigra and basal ganglia
85
What is treatment for Parkinson’s disease? (7)
Levodopa with dopadecarboxylase inhibitor eg co-beneldopa Dopamine agonist eg pergolide/apomorphine MAOB inhibitor eg Selegilline Anti cholinergics COMT inhibitors eg entacapone Amantadine Deep brain stimulation
86
What are causes of tremor? (3)
Resting: Parkinson’s disease Postural: benign essential tremor, anxiety, Thyrotoxicosis, metabolic encephalopathy, alcohol Intention: cerebellar disease
87
What is hereditary sensory motor neuropathy?
Charcot Marie tooth disease Or peroneal muscular atrophy
88
What are signs of hereditary sensory motor neuropathy? (8)
Wasting of distal lower limb muscles with preservation of thigh muscle bulk (inverted champagne bottle) Pes cavus Weakness of ankle dorsiflexion and toe extension Variable degree of stocking distribution sensory loss High stepping gait due to foot drop Stamping gait due to absent proprioception Wasting of hand muscles Palpable lateral popliteal nerve
89
What are the types of hereditary sensory motor neuropathies and how are they inherited?
HSMN type 1: demyelinating HSMN type 2: axonal Autosomal dominant inheritance
90
What are causes of sensory predominant peripheral neuropathy? (4)
Diabetes Alcohol Drugs: isoniazid and vincristine Vitamin B12 and B1 deficiency
91
What are causes of predominantly motor peripheral neuropathy? (4)
Acute: Guillain barre and botulism Lead toxicity Porphyria HSMN
92
What are causes of mononeuritis multiplex? (5)
Diabetes Connective tissue disease eg SLE/RA Vasculitis eg PAN/churg-strauss Infection eg HIV Malignancy
93
What are signs of friedrichs ataxia? (9)
Young adult in wheelchair Pes cavus Bilateral cerebellar ataxia Leg wasting with absent reflexes and bilateral upgoing plantars Dorsal column signs: loss of vibration and joint position sense High arched palate Optic atrophy Sensorineural deafness Murmur of HOCM
94
How is friedrichs ataxia inherited and what is prognosis?
Autosomal recessive Onset during teenage years Survival rarely exceeds 20 years from diagnosis
95
What are causes of extensor plantars with absent knee jerks? (6)
Friedrichs ataxia Subacute combined degeneration of cord MND Tertiary syphillis Conus medullaris lesions T12-L2 Dual pathology eg cervical spondylosis with peripheral neuropathy
96
What are signs of facial nerve palsy? (4)
Unilateral facial droop Absent nasolabial fold and forehead creases Inability to raise eyebrows, screw eyes up or smile Bells phenomenon: eyeball rolls up on attempted eye closure
97
How can you identify level of lesion in facial nerve palsy? (4)
Pons: VI palsy and long tract signs Cerebellar-pontine angle: V, VI, VIII and cerebellar signs Auditory canal: VIII Neck and face: scars or parotid mass
98
What are causes of facial nerve palsy? (9)
Bells: rapid onset, HSV1 implicated, swelling and compression of nerve in facial canal caused demyelination and conduction block Herpes zoster: Ramsay hunt syndrome diabetes sarcoidosis Lyme disease Tumour: cerebellopontine angle, parotid trauma MS Stroke
99
What are causes of bilateral facial palsy? (5)
Guillain barre Myasthenia gravis Sarcoidosis Bilateral Bell’s palsy Lyme disease
100
What are clinical signs of myasthenia gravis? (6)
Bilateral ptosis worse on sustained up gaze Complicated bilateral extra ocular muscle palsies Myasthenic snarl Nasal speech, palatal weakness and poor swallow (bulbar involvement) Proximal muscle weakness with fatiguability Thymectomy scar
101
What are associations of myasthenia gravis? (2)
Other autoimmune conditions: diabetes, RA, Thyrotoxicosis, SLE Thymoma
102
What is the pathophysiology of myasthenia gravis?
Anti nicotinic acetylcholine receptor antibodies affect motor end plate neurotransmission
103
What are investigations for myasthenia? (7)
Anti AChR antibodies 90% Anti MuSK antibodies EMG: decremented response to train of impulses Ice pack test Tensilon test if diagnostic doubt: risk of heart block CT chest for thymoma TFTs; graves present in 5%
104
What are treatments for myasthenia? (5)
Acute: IV immunoglobulin or plasmapheresis Chronic: ACh esterase inhibitor - pyridostigmine Immunosuppression: steroids, azathioprine Thymectomy Early ICU involvement if bulbar symptoms /declining FVC or single breath count
105
Which drugs can cause worsening of myasthenia symptoms? (12)
Macrolide abx - azithromycin etc Aminoglycoside abx - gent etc Fluoroquinolone abx - ciprofloxacin Steroids - can cause initial worsening Procainamide Beta blockers Botox Penicillamine Quinine Magnesium Statins Desferioxamine
106
What is lambert Eaton myasthenic syndrome?
Associated with malignancy eg small cell lung cancer Antibodies to pre synaptic calcium channels
107
How does examination differ in lambert Eaton myasthenia vs MG? (3)
Diminished reflexes that become brisker after exercise Lower limb girdle weakness (rather than upper limb in MG) EMG shows second wind phenomenon on repetitive stimulation
108
What are causes of bilateral extra ocular palsies? (5)
Myasthenia gravis Graves’ disease Mitochondrial cytopathies eg kearns sayre syndrome Miller fisher variant GBS Cavernous sinus pathology
109
What are causes of bilateral ptosis? (6)
Congenital Senile Myasthenia gravis Myotonic dystrophy Mitochondrial cytopathies eg kearns sayre syndrome Bilateral Horner’s
110
What is kearns sayre syndrome?
Mitochondrial cytopathy Onset before the age of 20, Chronic progressive external ophthalmoplegia and pigmentary retinopathy
111
What is tuberous sclerosis?
multisystem autosomal dominant genetic disease TSC1 and 2. Hamartomas in brain, kidneys, heart, liver, eyes, lungs and skin Symptoms; seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, lung disease, and kidney disease
112
What skin changes are characteristic of tuberous sclerosis? (4)
Facial adenoma sebaceum, butterfly distribution (angiofibromata) Periungual fibromas Shagreen patch: rough leathery skin over lumbar region Ash leaf macules: depigmented macules on trunk
113
What respiratory involvement can occur in tuberous sclerosis?
Cystic lung disease - Lymphangioleiomyomatosis (LAM)
114
What renal involvement can occur in tuberous sclerosis? (3)
Renal enlargement from cysts/angiomyolipomata Need for renal transplant /dialysis Renal cell carcinoma can be complication
115
Why is there overlap of ADPKD and tuberous sclerosis?
Genes for both are contiguous on chromosome 16 so some mutations cause both conditions
116
What eye involvement occurs in tuberous sclerosis?
Retinal phakomas: dense white patches in 50%
117
What CNS involvement occurs in tuberous sclerosis? (5)
Developmental delay Seizures Giant cell astrocytoma: can lead to hydrocephalus Cortical tubers Subependymal nodules: form in the walls of ventricles
118
What signs might a patient have that suggest they are on anti seizure drugs? (4)
Gum hypertrophy, hirsuitism, ataxic, tremor if on phenytoin
119
What investigations should be done for tuberous sclerosis? (4)
Skull films: railroad track calcification CT/MRI head: tuberous masses in cerebral cortex, often calcified Echo: cardiac rhabdomyomas Abdominal ultrasound: renal cysts/hamartomas
120
What are clinical signs of neurofibromatosis? (8)
Cutaneous neurofibromas: 2 or more Cafe au lait patches: 6 or more >15mm Axillary freckling Lisch nodules: melanocytic hamartomas of iris BP: HTN from RAS and phaeochromocytoma Chest: fine crackles from fibrosis Neuropathy with enlarged nerves Visual acuity: optic glioma/compression
121
What is neurofibromatosis?
Autosomal dominant inheritance Type 1: chromosome 17 peripheral Type 2: chromosome 22 bilateral acoustic neuromas and sensorineural deafness
122
What conditions are associated with neurofibromatosis? (2)
Phaeochromocytoma Renal artery stenosis
123
What are complications of neurofibromatosis? (4)
Epilepsy Sarcomatous change Scoliosis Intellectual disability
124
What are causes of enlarged nerves and peripheral neuropathy? (5)
Neurofibromatosis Leprosy Amyloidosis Acromegaly Refsum’s disease
125
What are causes of enlarged nerves and peripheral neuropathy? (5)
Neurofibromatosis Leprosy Amyloidosis Acromegaly Refsum’s disease
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What are signs of horners? (5)
Partial ptosis (levator palpebrae partially supplied by sympathetic fibres) Enophthalmos Anhydrosis Small pupil (miosis) Flushed/warm skin ipsilaterally
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What might you find on examination hinting at cause of Horners?
Neck scars - central line, carotid endarterectomy, aneurysms, pancoasts tumour
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What are causes of Horners? (3)
Brain stem: MS, wallenbergs stroke Spinal cord: syrinx Neck: aneurysm, pancoasts tumour
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What is a holmes - adie pupil and what are features? (5)
Benign condition, more in females Moderately dilated pupil Poor response to light Sluggish response to accommodation Absent or diminished ankle and knee jerks
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What is an Argyll Robertson pupil and what are features? (5)
Manifestation of quaternary syphillis or diabetes Small irregular pupil Accommodates but doesn’t react to light Atrophied and depigmented iris May have sensory ataxia and bilateral ptosis- tabes dorsalis
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How do you test for syphilis?
Treponema Pallidum Hemagglutination Assay (TPHA) or fluorescent treponemal antibody absorption (FTA-ABS)
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What are signs of oculomotor (III) nerve palsy? (3)
Complete ptosis Dilated pupil Eye down and out due to unopposed lateral rectus (VI) and superior oblique (IV)
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What will be difference between medical and surgical causes of 3rd nerve palsy?
Medical: normal pupil, non traumatic, affecting core of nerve only Surgical: pupil involved, parasymp fibres run on outside so blocked by compressive lesions
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What are causes of a medical 3rd nerve palsy? (4)
Mononeuritis multiplex: diabetes Midbrain infarction: webers Midbrain demyelination: MS Migraine
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What are surgical causes of a 3rd nerve palsy? (3)
Communicating artery aneurysm (posterior) Cavernous sinus: thrombosis, tumour, fistula Cerebral uncus herniation
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What are clinical signs of optic atrophy? (2)
Relative afferent pupillary defect Disc pallor on fundoscopy
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Which conditions can cause optic atrophy and what clinical signs hint at it? (8)
Glaucoma: cupping of disc Retinitis pigmentosa: bone spicule pigmentation Central retinal artery occlusion: pale retina with cherry red spot Frontal brain tumour: foster Kennedy syndrome - papilloedema in 1 eye to due raised ICP and optic atrophy in other due to compression by tumour MS: cerebellar signs, INO Friedrichs ataxia: scoliosis, Pes cavus Paget’s: large bossed skull, hearing aids Tertiary syphillis: Argyll Robertson pupil
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What are causes of PALE DISCS?
Pressure: tumour, glaucoma, Paget’s Ataxia: friedrichs LEbers: mitochondrial disorder Dietary: b12 deficiency Degenerative: retinitis pigmentosa Ischaemia: CRAO Syphilis, CMV, toxoplasmosis Cyanide, alcohol, lead, tobacco Sclerosis: MS
139
What are signs of AMD?
Wet: neovascular and exudative Dry: non- neovascular, atrophic and non exudative Macular changes: Drusen, geographical atrophy, fibrosis
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What are risk factors for AMD? (5)
Age White race Family history Smoking Wet: higher incidence of IHD and stroke
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What are treatments for AMD?
Ophthalmology referral Wet: intra vitreal injections of anti VEGF
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What is prognosis for AMD?
Majority progress to blindness in affected eye within 2 years of diagnosis
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What are clinical signs of retinitis pigmentosa? (5)
White stick and braille book Reduced peripheral vision Fundoscopy: bone spicule pigmentation peripherally, follows veins, spares macula Optic atrophy Cataracts
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Which conditions are associated with retinitis pigmentosa? (5)
Ataxia: abetalipoproteinaemia, refsums, kearns sayre Deafness: refsums, kearns sayre, ushers disease Ophthalmoplegia/ptosis: kearns sayre Polydactyly: Laurence-moon-biedl Icthyosis: refsums
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What are features of Laurence moon biedl syndrome? (6)
Autosomal recessive condition retinitis pigmentosa polydactyly obesity hypogonadism Intellectual disability
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What are features of Refsum’s disease and what causes it? (6)
Autosomal recessive Accumulation of phytanic acid Ataxia Icthyosis Deafness Retinitis pigmentosa
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What are features of kearns sayre syndrome and what causes it? (8)
Mitochondrial disorder Chronic progressive external ophthalmoplegia Ptosis retinitis pigmentosa Cardiac conduction abnormalities Ataxia Deafness Diabetes
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What are features of friedrichs ataxia and what causes it? (7)
Autosomal recessive, trinucleotide repeat causing mitrochondrial dysfunction Ataxia Hypertrophic cardiomyopathy Diabetes Pes cavus Scoliosis Optic atrophy
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What is retinitis pigmentosa?
Inherited form of retinal degeneration characterised by loss of photo receptors
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What are causes of retinitis pigmentosa? (2)
Congenital: autosomal recessive, 15% due to rhodopsin pigment mutations Acquired: post inflammatory retinitis
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What is prognosis in retinitis pigmentosa?
Progressive loss of vision due to retinal degeneration Initially reduced night vision Most registered blind at 40 Central vision loss in 7th decade No treatment although vit A may slow progression
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What are causes of tunnel vision? (6)
Papilloedema Glaucoma Choroidoretinitis: CMV/toxo/bechets Retinitis pigmentosa Migraine with Aura Panic attack
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What are signs of retinal artery occlusion? (2)
Pale milky fundus with thread like arterioles Cherry red macula
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What are causes of retinal artery occlusion? (2)
Embolic: AF, Carotid stenosis Giant cell arteritis
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What are signs of retinal vein occlusion? (3)
Flame haemorrhages radiating from optic disc Engorged tortuous veins Cotton wool spots
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What are causes of retinal vein occlusion? (4)
HTN Diabetes Hyperviscocity: waldenstroms or myeloma Glaucoma
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Which muscles of the hand are supplied by the median nerve?(4)
Lumbricals Opponens pollicis Abductor pollicis brevis Flexor pollicis brevis
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What is Hoffmans sign?
UMN lesion causes reflex flexion-adduction of thumb and fingers when distal phalanx of middle finger forcibly flexed
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What are differentials for bilateral spastic paraplegia? (12)
Hereditary spastic paraplegia Cerebral palsy MS Trauma Friedrichs ataxia HIV Spinal cord tumour MND Syringomyelia Subacute combined degeneration of cord Transverse myelitis Anterior spinal artery thrombosis
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What is an intracranial bilateral cause of spastic paraparesis?
Parasagital falx meningioma
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Where is the lesion in patients with spastic paresis of one leg? How would you differentiate
Could be spinal cord or brain Progression to the arm does not help differentiate, neither does spread to other leg Need imaging of both to look for lesion
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What is hereditary spastic paraplegia?
Autosomal dominant condition Spasticity more prominent than weakness Age of onset variable Can have vibration sense loss
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How do you localise a lesion to L2/3? (4)
Weakness of hip flexors and quads Knee jerk affected Radicular pain: anterior thigh, groin, testicle Sensory deficit: anterior thigh
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How do you localise a lesion to L4? (4)
Weakness: quads, tibialis anterior and posterior Knee jerk affected Radicular pain: anteromedial leg Sensory deficit: anteromedial leg
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How do you localise a lesion to L5? (4)
Weakness; hamstrings, peroneus longus, extensors of toes No reflexes involved Radicular pain: buttock, posterior thigh, anterolateral leg, dorsum of foot Sensory: dorsum of foot, anterolateral aspect leg
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How do you localise lesion to S1?(4)
Weakness: plantar flexors, extensor digitorum brevis, peroneus longus, hamstrings Ankle jerk affected Radicular pain: buttock, back of thigh, calf and lateral foot Sensory: lateral foot
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What is important to examine in a patient with hemiplegia? (9)
Neuro exam as normal Homonymous hemianopia Sensory inattention Carotid bruits Speech defects Pulse for AF Heart for murmurs BP Urine for sugar
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What are causes of hemiplegia? (8)
Stroke Tumour Subdural haematoma Syphilis MS Trauma Connective tissue disorder Intracranial infection
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What scoring system is useful in risk stratifying strokes?
NIHSS: measure of overall neurological deficit
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What are important examination features in a patient with ptosis? (7)
Complete or incomplete Unilateral or bilateral Pupil constricted: Horner’s Pupil dilated: 3rd nerve palsy Extraocular muscles involved: 3rd nerve or myasthenia Eyeball sunken Light reflex: intact in horners
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What additional things should you examine in Horner’s? (9)
Ptosis Pupil constriction Supraclavicular area: percuss for dullness of pancoasts, lymph nodes, scar from sympathectomy Neck: carotid and aortic aneurysms, tracheal deviation (pancoasts) Hands: small muscle wasting, clubbing, pain sensation (synringomyelia) Cerebellar signs Cranial nerves Optic discs Pyramidal signs
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What additional feature differentiates congenital Horner’s from other causes?
Heterochromia of iris: remains grey-blue
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How can you differentiate level of lesion in horners? (3)
Sweating over entire half of head, arm and upper trunk means central lesion Sweating only on face: proximal to superior cervical ganglion Sweating not affected: distal to superior cervical ganglion
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What are causes of unilateral ptosis? (5)
Third nerve palsy Horners syndrome Myasthenia gravis Congenital idiopathic
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What are causes of bilateral ptosis? (8)
Myasthenia gravis Myotonic dystrophy Ocular myopathy Oculopharyngeal dystrophy Mitochondrial dystrophy Tabes dorsalis Congenital Bilateral Horners (Syringomyelia)
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What are causes of an Argyll Robertson pupil? (9)
Neuro syphilis Diabetes Pinealoma Brainstem encephalitis MS Lyme disease Sarcoidosis Syringobulbia Tumours of posterior 3rd ventricle
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What are causes of aniscoria (unequal pupils)? (7)
20% normal individuals Third nerve palsy Iritis Blindness in one eye Stroke/bleed Head trauma Hemianopia due to optic tract involvement
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What are causes of a dilated pupil? (7)
Mydriatic drops Third nerve lesion Holmes adie syndrome Lens implant/iridectomy Blunt trauma to iris Drugs: cocaine, amphetamine Deep coma
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What are causes of a small pupil? (6)
Old age Pilocarpine drops Horners syndrome Argyll Robertson pupil Pontine lesion Narcotics
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What are causes of a central scotoma? (12)
MS Optic nerve compression due to tumour or aneurysm Glaucoma Toxins: methanol, lead, arsenic CRAO Temporal arteritis Syphyllis Friedrichs ataxia Lebers optic atrophy Pagets B12 deficiency Retinitis pigmentosa
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What are causes of tunnel vision? (6)
Optic atrophy Retinitis pigmentosa Choroidoretinitis Glaucoma Hysteria Significant refractive error
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What are causes of cerebellar syndrome? (9)
MS Brainstem vascular lesion Phenytoin toxicity Alcohol SOL Hypothyroidism Paraneoplastic manifestation of bronchogenic carcinoma Friedrichs ataxia Congenital malformation at foramen magnum
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How can you localise cerebellar signs? (3)
Gait: anterior lobe Truncal: flocconodular or posterior lobe Limb: lateral lobes
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What are differentials for nystagmus? (9)
Labrynthitis Menieres Acoustic neuroma Otitis media Head injury MS Stroke Brainstem tumour Wernickes
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Where are the lesions with expressive or receptive dysphasia?
Dysphasia due to lesion in dominant hemisphere Expressive: Broca’s area in inferior frontal lobe Receptive: wernickes area in superior temporal lobe
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What are causes of dysarthria? (6)
Stutter Cranial nerve palsy: bell’s, 9th, 10th, 11th Cerebellar disease Parkinsons Pseudobulbar palsy Bulbar palsy
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What are parietal lobe signs? (6)
Localisation of touch, position, joint sense, temperature Loss of two point discrimination Astereognosis Dysgraphaesthesia Sensory inattention Homonymous hemianopia or lower quadrantic hemianopia
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Where will the patient have diplopia in a 3rd nerve palsy?
In all directions except on lateral gaze to the side of the palsy
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What are the components of paralysis in 3rd nerve palsy? (4)
Unilateral ptosis: levator palpebrae superioris paralysis Dilated pupil reacting slowly to light: pupil constrictor paralysis Lack of accommodation: ciliary muscle involvement Squint and diplopia: superior, inferior, medial recti and inferior oblique paralysis
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What are important investigations for a 3rd nerve palsy? (7)
Blood pressure Glucose ESR (exclude temporal arteritis) Anti AChR and anti musk for MG TFTs and orbital USS for thyroid eye disease CT head Arteriography if painful and pupil involvement
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What is Webers syndrome?
Ipsilateral 3rd nerve palsy with contralateral hemiplegia Midbrain lesion
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What are causes of 6th nerve palsy? (8)
HTN Diabetes Raised ICP (false localising sign) MS Basal meningitis Encephalitis Acoustic neuroma Nasopharyngeal carcinoma
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Where is the nucleus of the 6th nerve located?
Pons
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What structures sit close to the sixth nerve nucleus and fascicles? (4)
Facial and Trigeminal nerves Corticospinal tract Median longitudinal fasciculus Parapontine reticular formation
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How do you differentiate between upper and lower motor neurone lesions of 7th nerve?
Lower motor neurone: whole face including forehead Upper: forehead spared
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What are the branches of the facial nerve? (4)
Greater superficial petrosal nerve: lacrimal, nasal and palatine glands Stapedius Chorda tympani: taste to anterior 2/3 tongue, submaxillary and sublingual glands Motor branches through stylomastoid foramen
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How do you localise 7th nerve palsy? (3)
Pons: ipsilateral 6th Cerebellopontine angle: 5th and 8th nerve associated Bony canal: loss of taste, hyperacusis
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What are causes of chorea? (8)
Sydenhams Chorea: rheumatic fever Huntingtons disease Polycythemia vera Chorea gravidarum Drug induced SLE Thyrotoxicosis If hemi: infarction or tumour
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What are causes of bilateral high stepping gait? (3)
Peripheral neuropathy: CMT, CIDP, leprosy Neuromuscular: inclusion body myositis, MND, myotonic dystrophy Cauda equina
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What are causes of unilateral foot drop/high stepping gait and how do you differentiate between them? (4)
Common peroneal nerve palsy: weak ankle dorsiflexion, eversion, inversion, normal ankle jerk, sensory loss outside leg and foot L4/5 root lesion: as above but also weak hip abduction, sensory loss L4/5 Peripheral neuropathy: weakness of all muscles including plantar flexion, stocking sensory loss Sciatic nerve lesion: loss of power below knee, loss of knee flexion loss of ankle jerk and plantar response; not knee jerk, loss of sensation below knee on lateral side
201
What are differentials for tongue atrophy and fasciculations? (3)
MND Tumour Stroke
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What are differentials for Optic neuritis/neuropathy causes? (7)
Demyelinating: MS Autoimmune: Neuromyelitis optica, bechets, SLE Ischaemic: giant cell, non arteritic Infection: TB, syphilis, Lyme Nutrition: b12 deficiency Drugs: methanol, tobacco, ethambutol , isoniazid Inherited: lebers hereditary ON
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How can you distinguish clinically between ulnar nerve problem and C8-T1 radiculopathy?
abductor and flexor pollicis brevis, opponens pollicis, and lateral two lumbricals involved in C8-T1 (median nerve) Sensation only in ulnar distribution if ulnar nerve palsy
204
Where can ulnar nerve get trapped? (2)
Cubital tunnel syndrome at elbow Guyon's canal syndrome at wrist
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Which muscles are supplied by ulnar nerve?
Two muscles of anterior forearm – flexor carpi ulnaris and medial half of flexor digitorum profundus Intrinsic muscles of hand (apart from thenar muscles and two lateral lumbricals)
206
Which nerve and muscles provide function for wrist extension?
Radial nerve Extensor Carpi Radialis Longus (prime mover), Extensor Carpis Radialis Brevis (prime mover), Extensor Carpi Ulnaris, Extensor Digitorum (assists only)
207
What are drug treatments for neuropathic pain? (4)
TCA: Amitriptyline Anti seizure drugs: Gabapentin/pregabalin SNRI: Duloxetine Topical: capsaicin
208
What are causes of peripheral neuropathy? (7)
Metabolic: diabetes, hypothyroidism, uraemia, b1/6/12 deficiency Toxic: chemo, alcohol, amiodarone, isoniazid, nitrofurantoin Inflammatory: CIDP, sarcoidosis, vasculitis, RA, SLE Paraneoplastic: lung cancer, myeloma Inherited: CMT Infection: HIV, Lyme disease Idiopathic
209
What useful info can be gained from NCS?
Look at axonal vs demyelinating Length dependent?
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What is the difference between small and large fibre neuropathy?
Large fiber neuropathy: loss of joint position and vibration sense and sensory ataxia Small fiber neuropathy: impairment of pain, temperature and autonomic functions
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How do you differentiate between middle cerebral artery and posterior cerebral artery lesion causing homonymous hemianopia?
Macular sparing in posterior
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What additional things might you examine for in stroke to look for cause? (4)
Pulse for AF Carotids for bruit Heart sounds for murmur BP
213
What are differentials for bilateral spastic paraparesis and how do you localise? (5)
If sensory level: disc prolapse, spinal stroke, transverse myelitis If dorsal column sensory loss: MS, Friedreich’s ataxia, subacute combined degeneration of cord, cervical myelopathy If cerebellar signs: MS, Friedrichs If RAPD/INO: MS If fasciculations: MND, cervical myelopathy
214
What are causes of cerebellar ataxia? (6)
Acute: stroke Relapsing/remitting: MS Alcohol related Genetic: freidrichs, ataxia-telangiectasia Paraneoplastic Drugs: phenytoin, lithium, valproate
215
What are causes of fasciculations? (3)
MND Multi focal motor neuropathy SMA
216
What are differentials for MND? (3)
Multi focal motor neuropathy (LMN only) Kennedys disease (X-linked spinal bulbar muscular atrophy) (LMN) SMA in young patients
217
What are causes of peripheral neuropathy? (9)
Metabolic: diabetes, hypothyroidism, renal failure, vit B1/6/12 def Drugs: isoniazid, nitrofurantoin, phenytoin, chemo Toxin: alcohol, lead Infection: HIV, Lyme, leprosy Malignancy associated: small cell Inflammatory: GBS, CIDP Hereditary: CMT Immune: RA, SLE, PAN Traumatic: compression
218
What are pathognomonic findings in Kennedys disease?
LMN weakness only Peri oral fasciculations
219
What is post polio syndrome?
disorder of nerves and muscles many years after they had polio new muscle weakness, gets worse over time, pain in muscles and joints, and tiredness often feel exhausted
220
What is polio?
LMN syndrome caused by poliovirus Causes weakness, wasting, pes cavus
221
What is difference between spasticity and rigidity?
Spasticity: pyramidal lesions, velocity dependent, clasp knife (initial increased tone then gives way) Rigidity: extra pyramidal, velocity independent, cogwheel with super imposed tremor or lead pipe uniform (NMS)
222
What are differentials for mixed upper and lower motor neurone signs? (3)
MMD Cervical myelopathy Syringomyelia
223
What is the sussman protocol for?
Initiating treatment of myasthenia gravis with pyridostigmine and steroids (start low and work up to not worsen symptoms unless critically unwell)
224
What is management for GBS acutely? (4)
Monitor FVC - if <1.5 - dw ITU IV immunoglobulins Plasma exchange Manage VTE risk
225
What are key examination findings of GBS? (3)
LMN weakness Mixed motor and sensory peripheral neuropathy Not length dependent
226
What is management of CIDP? (4)
MDT Analgesia Steroids /immunosuppresion IV IG/ plasma exchange if any acute component
227
What are non motor features of Parkinson’s? (6)
REM sleep disorder Anosmia Mood disorder Pain Reduced cognition Constipation
228
What are differences between left and right MCA infarcts?
Left: usually contain language centre so aphasia present Right: usually non dominant, may have neglect
229
What are signs of raised ICP in cranial nerves? (3)
Papilloedema 6th nerve palsy Field defect
230
What are treatments for migraine? (2)
Acute: NSAIDs, Triptans Prevention: propranolol, topiramate, amitriptyline, Botox
231
What are causes of choreiform movements? (7)
Immune: Sydenhams (rheumatic fever), SLE Inherited: huntingtons, Wilson’s Acute: hyperglycaemia, hyperthyroidism vascular: stroke Chorea gravidarum Paraneoplastic Drugs: levodopa, amphetamines, lithium
232
What are causes of myelopathy? (9)
Degenerative Cervical myelopathy: spinal stenosis, disc prolapse MS Autoimmune: RA, SLE Malignancy Syringomyelia Trauma Spinal stroke Infection Subacute combined degeneration