Neurology Flashcards
(185 cards)
1
Q
Types of stroke
A
1) Ischaemic
- Embolic / atheroscelrotic
2) Haemorrhagic
- Intracerebral / sub-arachnoid / extradural / subdural
3) Venous
2
Q
Cause of lacunar infract?
A
Local atheromatous disease 2o HTN / smoking
Infarction up to 1.5cm
3
Q
Common RFs stroke
A
1) Smoking
2) HTN
3) DM
4) AF
5) TIAs
6) Carotid artery stenosis
7) FHx
4
Q
Types of lacunar infarct?
A
- Pure motor
- Sensorimotor
- Pure sensory
- Ataxia-hemiparesis - hemiparesis with ataxia disproportionate to weakness
- Dysarthria
5
Q
Ix of large vessel ischaemic stroke
A
1) Carotid and vertebral arteries - occlusion / dissection
2) Cardiac structure and rhythm
3) Prothrombotic tendency
6
Q
Anterior cerebral artery occlusion signs
A
1) Contralateral LL weakness and sensory impairement (sometimes mild in UL)
2) Loss of voluntary micturition -> incontinence
7
Q
Middle cerebral artery occlusion signs
A
1) Contralateral weakness and sensory impairment of face and arm, more than leg
2) Homonymous quadrant/hemi-anopia
3) Expressive +/- receptive dysphasia
8
Q
ACA supply
A
Parasaggital cortex
9
Q
MCA supply
A
Lateral surface of frontal, temporal and parietal lobes
10
Q
Posterior circulation stroke vessels
A
All supplied by vertebral arteries
Includes basilar arteries and it s perforators
11
Q
PICA
A
Posterior inferior cerebellar artery
12
Q
PICA syndrome.. aka..
A
Lateral medullary synbdrome
Wallenberg’s syndrome
13
Q
PICA syndrome signs
A
1) Impairment of pain/pinprick - ipsilateral in face, contralateral trunk and extremities
2) Dysphagia / hoarsnessess / impaired gag
3) Ipsilateral horners
14
Q
AICA
A
Anterior inferior cerebellar artery
15
Q
AICA syndrome
A
1) Ipsilateral face sensory impairment
2) Contralateral trunk and extermities pain and pinprick impairment
3) Ipsilateral paralysis of face and muscle of mastication
4) Ipsilateral hemi-ataxia
16
Q
PCA occlusion
A
1) Contralateral homonymous hemianopia
2) Contralateral loss of pain / temp sensation
3) Memory deficits
4) Cortical blindness and visual defecits
5) Third nerve palsy and contralateral hemiplegia (Weber’s syndrome)
17
Q
Top of basilar syndrome
A
1) Loss of vertical eye movements
2) Pupillary abnormalities
3) Coma
4) Locked-in syndrome
18
Q
Blood supply spinal cord
A
2/3 is supplied by anterior spinal artery
19
Q
Commonest area of spinal cord infarction
A
Upper thoracic cord (as is a watershed area)
20
Q
Signs of spinal cord infarction
A
1) Acute flaccid paralysis (later spasticity)
2) Loss of sphincter control
3) Anasthesia to pain/temp (spinothalamic), but preservation of joint position vibration (dorsal columns)
21
Q
Causes of ischaemic stroke (4)
A
1) CARDIAC
- AF/ valvular disease / endocariditis / prosthetic valve
2) ARTERIAL TREE PATH
- Carotid / aortic atherosclerosis / dissection / vasculitis
3) HAEMATOLOGICAL
- Sickle / Polycythaemia / Thrombocytopenia / antiphospholipid
4) Non-atherosclerotic vasculpopathy
- Drug misuse / Mitochondrial disease / CADASIL
22
Q
% stroke due to haemorrhage
A
10%
23
Q
Deep intracerbal haemorrhage
A
Usually related to HTN especially close to basal ganglia
24
Q
5 most common causes of intracerebral haemorrhage:
A
1) HTN
2) Anticoagulation
3) Trauma
4) Tumour
5) Aneurysm
25
Most common cause of subarachnoid haemorrhage
Intracranial aneurysm (85%)
26
Complications of subarachnoid haemorrhage
1) Vasospasm - give nimodipine
2) Hydrocephalus
3) Rebleeding
4) Seizures
5) Pulmonary oedema
/ arrhythmia
27
Cushings triad
Bradycardia, wide pulse pressure, high BP
28
Signs of venous infarction
1) Signs of raised ICP - headache / papilloedema / VI CN palsy
2) Seizures
3) Focal signs
4) Altered consciousness
29
Causes of venous infarction
1) Raised oestrogen
2) Dehydration
3) Sepsis
4) Thrombophilia
30
DDx stroke
SOL
Viral encephalitis
Neuroinflammatory E.g. MS
Migrane
Metabolic E.g. hypoglycaewmia
Epilepsy E.g. Todd's paresis
31
Immediate Ix stroke
Obs
Glucose
12 lead ECG
CT head +/- head and neck angiography
32
Mx post stroke
SLT assessment
CXR ?aspiration
Thrombophilia screen
24hr ECG & TTE
MRI brain
33
Thrombolysis window
3-4.5 hours dependent on local guidelines
34
Contraindications to thrombolysis
Prev. intracranial haemorrhage
Stroke / head injury in last 3/12
Active bleeding
Prev. GI bleed / varices / liver disease
Surgery or trauma last 14 days
Pericarditis / pancreatitis
Recent lumbar puncture
Uncontrolled HTN
35
Bleeding risk with thrombolysis
6% if treated within 3 hours
Risk rises with time
36
Acute complications of stroke
1) Raised ICP
2) Haemorrhagic transformation
3) Aspiration -> pneumonia
37
Evidence for thrombolysis
NINDS trial - increased patients with minimal disability from 38% -> 50%, NNT 8, NNT improved outcome 3
38
Secondary prevention ischaemic stroke
1) Aspirin 300mg for 2 weeks then Clopi 75mg OD
2) ACEi
3) Statin
?anticoag
?carotid endarterectomy if >70%
39
Whats is NIHSS
Assess severity of stroke
Max score 42
Score 5-20 = thrombolysis
40
Ix subarachnoid haemorrhage
CT head
If CT head normal, LP ?xanthochromia
Digital subtraction angiography gold-standard
41
Tx Subarachnoid haemorrhage
1) Supportive Care - avoid hyperthermia / hyperglycaemia
2) Stop antiplatelet/anticoag
3) Commence nimodipine
4) Neurosurgical review
42
What is MS?
CNS inflammation disseminated in time and space
43
MS Epidemiology
Typically 20 -40
Females 2x more likely
44
MS Aetiology
Both genetic (HLA II alleles & IL-7 receptor alpha) and enviromental factors (viruses / Vit D deficiency)
45
What is optic neuritis?
Pain on movement of eye, commonly associated with changes in vision (acuity / colour / RAPD)
46
Cause of diplopia in MS?
CN VI palsy
Internuclear opthalmoplegia
47
Presentation of spinal cord lesion in MS?
Sensory disturbance
Paraparesis
+/- urinary/bowel dysfunction
48
Late features of MS
Weakness and spasticity
Cerebellar signs
Cognitive impairment
49
Uhtpoff's phenomenon
Worsening of neurological symptoms with rise in body temp (e.g. after shower)
50
MS - CNS or PNS
CNS! does not cause isolated peripheral neuropathy
51
MS clinical course
85% relapse-remitting
After 20 years most develop secondary progressive MS
Others are primary progressive
52
How is MS diagnosed?
CLINICALLY - need to exclude mimics
Blood tests inc. ESR, ANA, ANCA, dsDNA, ENA, anti-phospholipid, B12 and treponema serology
MRI - periventricular white matter lesions, typically in corpus callosum
Visual evoked potentials if involving optic pathway
CSF usually normal, may have mildly raised WCC
53
Revised McDonald Criteria in MS
Diagnosis can be made in clinically isolated syndrome if new T2 lesion is demonstrated within 30 days of clinical onset
54
Mx acute relapse MS
Steroids - quicker symtpom resolution, no prognostic
Rule out infection
55
Symptomatic Mx in MS
Physiotherapy
Anti-spastics - baclofen / botox
Laxatives
Intermittent self-catheterisation
56
Disease-modifying therapy in MS
According to Association of British Neurologists:
1) Beta-interferon / glatiramer acetate - must be ambulant with evidence of active disease
2) mABs - Natiluzimab in those with severe active disease (alemtuzumab is also used
3) Oral - fingolimod in RRMS
57
MS Mimics
1) Vasculitides / Auto-immune conditions - E.g. SLE, Sjogrens, Behcets, Sarcoid
2) Vascular - recurrent TIAs/stroke, CADASIL, Fabry's
3) Mitochondrial - MELAS
4) Infection - Lyme / HIV / syphilis
5) Metabolic - B12 deficiency
6) Leucodystrophies
58
What is neuromyelitis optica?
Demyelination of spinal cord and optic nerve - mediated by antibody against aquaporin-4
59
Rating scale for disability in MS?
Expanded disability status scale
0-10
0=normal
5= ambulatory for 200m
10= death due to MS
60
Why would beta-interferon / glatiramer acetate be stopped?
Adverse reactions - injection site, flu like symptoms, AI hepatitis
Neutralising antiboides to beta-interferon, continue with glatiramer acetate
61
Cause of Parkinsonism?
1) Parkinson's disease
2) Drug induced (neuroleptics / anti-emetics / valproate)
3) Parkinsons Plus Syndrome - Progressive supranuclear palsy / MSA / corticobasal degeneration
4) Lewy body dementia
5) Vascular parkinsonism
6) Rarer - toxins / Wilsons
62
Signs that point away from PD?
Symmetry of symptoms
Tardive dyskinesia
Early falls, especially backwards
Supranuclear gaze palsy
Early autonomic disturbances
Early dementia & visual hallucinations
63
PD definition
Movement disorder characterised by bradykinesia, tremor and rigidity
64
What is chorea?
Unpredictable jerky movements affecting different body parts in a random fashion
65
Causes of chorea?
Sydenham's chorea - rheumatic fever
Drug-induced
Pregnanct
Polycythaemia ruba vera
Cerebral infarction
66
What is hemi-ballismus?
Ballistic movements of arm
Vascular lesion in subthalamic nucleus
67
What is athetosis?
Writhing movements of the limbs, usually more distally
68
What is dystonia?
Sustained involuntary contractions _> abnormal posture
69
What is tremor?
Involuntary rhythmic movements
70
Parkinsonian tremor
Low frequency rhythmic tremor
Present at rest
Worse on distraction
Alleviated by movement
71
Essential tremor
Postural or on action
Family history
Better with alcohol / beta blockers
72
Cerebellar tremor
Absent at rest
Exacerbated by goal-directed movement
73
Abnormal gait in peripheral neuopathy?
Yes, sensory ataxic gait - can expect midline ataxia and Rombergs +ve
74
Cause of peripheral neuropathy?
Metabolic
- Diabetes
- Hypothyroidism
- Uraemia
- Vit B1/6/12 deficiency
Toxic
- Alcohol excess
- Chemotherapy
- Antibiotics
Immune-mediated
- CIDP (chronic inflammatory demyelinating polyneuropathy
- Sarcoidosis
- ANCE +ve vasculitis
- RA
Paraneoplastic
- Either solid organ - lung - or those associated with paraproteinaemia
75
Further Ix peripheral neuropathy
Bedside tests for evidence of DM
- CBG
- Urinalysis - proteinuria
- Fundoscopy - retinopathy
Blood
- FBC ?macrocytic anaemia
- Urea and electrolytes, renal function
- LFTs ?transaminitis
- TFTs
- B12
- ESR ?inflammatory conditions
- HbA1c
Neurophysiology
- Nerve conduction ?demyelinating vs. axonal
- Length dependence - non-length depenendent likely inflammatory
76
Charcot-Marie Tooth Findings
Tone - Flaccid
Power - reduced distally
Areflexia
Reduced sensation
LL>UL
77
C-M-T genetics
Autosomal dominant, therefore need to check FHx
78
C-M-T Ix
Neurophysiology
- Demyelinating vs. axonal
- Helps delineate subgroups
Genetic testing (blood) to confirm diagnosis and phenotype
Involve Neuro (neuromuscular disorder)
79
Demyelinating vs. axonal in C-M-T
C-M-T Type 1 = demyelinating
80
C-M-T
No disease modifying treatments
Involve MDT
- Physiotherapy
- Orthotics - bilateral AFOs
- Occupational therapy
Diagnosis helpful as genetic conditions
Explains to patient
81
L homonymous hemianopia, reduced sensation L face & reduced hearing L ear
R hemispheric lesion
Could be R MCA infarct
82
Extra exam findings when expecting a stroke?
Irregularly irregular pulse ?AF
Carotid bruits ?stenosis
Murmur ?valvular heart disease
Check BP
83
Posterior cerebral artery stroke - what visual signs do you get?
Macula sparing
84
Chronic Stroke Ix & Mx
MRI Brain
Prolonged ECG - check rhythm
Carotid doppler - severe stenosis ?endarterectomy
BP monitoring
TTE ?structural cardiac cause
85
What is macula sparing?
Preserved central vision - happens with PCA stroke
86
Lower limb spastic paraparesis causes
Acute
- Vascular - spinal cord infarct
Chronic
- Disc prolapse
- Inflammatory - MS
- Neoplasia
87
What is INO?
Lesion in medial longitudinal fasiculus - resulting in failure of eye to adduct and nystagmus in other eye
Common in MS
88
Causes of cerebellar ataxia
Acute
- Stroke - ischaemic or haemorrhagic
Relapsing/remitting
- MS affecting cerebellum
Chronic
- EtOH - check social hx
Genetic
Paraneoplastic
89
Cerebellar signs
Dysdiadokinesia
Ataxia
Nystagmus
Intention tremor
Slurred speech
Hypotonia
90
Ix Cerebellar Ataxia
MRI
Superior vs. CT to image posterior fossa
91
Management of ataxia
Should try and address the underlying aetiology
Involve MDT - retain function & independence
- Physio - mobility
- OT - Equipment/adaptions at home
Lifestyle advice - assess occupation to reduce risk, medication side effects, EtOH Hx (can exacrbate therefore reduce/stop)
92
Ataxia DDx
Sensory vs. cerebellar
Sensory in UL
- Pseudoathetosis - writhing of fingers outstretched with eye close
- Struggle to finger nose with eyes close
Sensory in LL
- Looks where placing feet
- Swaying with Romberg's when eyes closed
Cerebellar signs - nystagmus, slurred speech
93
What do you do if reflexes cannot be elicited?
Jendrassik maneuver
POTENTIATES the reflex
94
Causes of sensory ataxia
Central
- Spinal cord pathology (dorsal column damage)
Peripheral
- Neuropathy - usually damaged to large myelinated fibres
Can be central and peripheral - Eg. B12 deficiency
95
Speech impairment MND
Bulbar dysarthria
96
DDX MND (with Lower signs)
Spinal muscular atrophy
Kennedy's disease
Multifocal neuropathy with conduction block (which is treatable!)
97
MND Ix
Neurophysiology
- EMG - look for fibrillation / fasiculations
- Nerve conduction studies - conduction block / dymelination
Imaging - MRI
98
MND key features in Hx
- Asymmetrical
- Rapid progression
- Behavioural / cognitive impairment (secondary to frontotemporal dementia)
- Family Hx (familial Hx vs. Kennedy's disease)
99
Mx MND
Refer to Neurology & MND CNS
Drugs - Riluzole (can improve prognosis by months)
MDT
- Physio improve mobility
- OT - adaptations / equipment at home/work
- SLT - assess swallow
- Dieticians - nutrition (?Needs PEG)
- Review Resp function - FVC monitoring (may progress to needing NIV at night)
100
MND other name
Amyotrophic Lateral Sclerosis
101
Signs in MND
Both upper and lower, absence of sensory signs
102
Medical term for increased sensation
Hyperaesthesia
103
History of onset in myelopathy
ACUTE (mins)
- Vascular
Acute (days)
- Trauma / disc herniation
Sub-acute (days-weeks)
- Autoimmune (demyelination / SLE)
Chronic (weeks-months)
- Nutritional (B12 / Cu) / malignancy
Chronic (Months/years)
- Genetic
Screen for other neuro features / relapse-remitting cause
Screen for malignancy fetures - FLAWS
FHx
104
Unilateral increased tone with weakness
Unilateral spastic paresis
105
Unilateral pyramidal findings (increased tone, brisk reflexes and weakness) with contralateral spinothalamic dysfunction
Partial brown-sequard syndrome
106
What is a myelopathy?
Spinal cord dysfunction
107
How do you localise level of myelopathy?
Need to do full upper + lower limb and CN neurological examination.
Would not expect any findings on examination of CNs
108
Signs of optic neuropathy
Pale disc & relative afferent pupillary defect - lesion in optic nerve
109
Ix of myelopathy
MRI of spinal cord
Urgency dependent on timing of onset and severity of symptoms
110
Treatment of spinal cord compression secondary to malignancy
High dose steroids
Radiotherapy vs. surgery
111
Perioral fasciulations
Pathognomic of Kennedy's disease, always mention MND
112
Cerebellar ataxia signs - DDx
Acute
- Stroke - infarct vs. haemorrhage (usually unilateral signs
- Cerebellitis (infection e.g. varicella or autoimmune)
- Demyelination
Chronic
- EtOH
- Nutritional deficieinces
- Previous surgery or trauma
113
Cerebellar Ataxia - Ix
Acute - CT head to r/o acute stroke
Chronic - MRI much superior
114
Key questions in Hx for patient with cerebellar ataxia
1) Onset and progression of symtpoms
2) Screen for other neurological signs or symptoms ?relapsing-remitting
3) RFs - Alcohol / Drugs / nutrition
4) Systemic features, inc. malignancy
5) FHx
115
What is staccato speech?
Broken / choppy speech
116
Oscillopsia
Where objects appear to be jumping in vision
117
Peripheral neuropathy and cerebellar signs - cause
More likely to be toxic cause e.g. EtOH
118
Dysfunction of motor function - where is lesion?
Could be:
- Anterior horn cells
- Motor neurones
119
Investigations for suspected MND
1) Full Hx - symptom onset and progression
2) Complete full neurological exams
3) Nerve conduction studies, looking for evidence of denervation
120
Kennedy's disease vs. ALS/MND
ALS is rapidly progressive
Kennedy's
- X-lined - look for family Hx
- Much more slower onset
121
Kennedy's disease vs. ALS/MND on clinical exam
Perioral fasiculations only in Kennedy's disease
122
Management of Kennedy's disease
Via MDT
Regular Neurology follow up, focussed on symptomatic management
OT/Physio to maintain function & independence & optimise home and work setting
SLT & dietician - assess swallow and optimise diet to reduce risk of aspiration
Neuropsychologist - to come to terms with condition
Can perform early morning blood gas to identify patients with respiratory muscle weakness -> refer for ventilatory support
123
Kennedy's disease other name
X-linked spinobulbar atrophy
Only lower motor neurones are affected
Slow progression
Associated with androgren insensitivity
124
How is Kennedy's disease confirmed?
Genetic testing
125
Use of nerve conduction studies in Kennedy's disease?
- Confirm denervation
- Assess extent of involvement
- Assess for any unexpected sensory involvement
126
What is arachnodactly? What conditions is it associated with?
Long , thin, curved fingers
Associated with Marfan's
127
Marfan's syndrome inheritance
Autosomal dominant
Affects fibrillin 1 gene
128
Cardiac complications of Marfans
Aortic root / aorta diltatation
Aortic regurgitation
Mitral valve prolpase
129
Indications of aortic root replacement in patient's with Marfans?
Aortic root > 50mm
or >45mm in individuals with FHx Aortic dissection
Aortic root expansion >3mm/year
130
Causes of breathlessness in Marfans?
Valvular incompetence
Ischaemic heart disease
Arrhtythmia
R/o IE
131
Progressive weakness in a patient with previous Polio
Post polio syndrome
symptoms include progressive muscle weakness, pain in the muscles and joints, and tiredness
132
Management of post polio syndrome
MDT approach
Regular neurology review - consider neuropathic analgesia
Physiotherapy and occupational therapy to maintain mobility/function and optimise home and work settings
Neuropsychology to help patient come to terms with diagnosis
133
134
5 UL screening tests
1. Pronator drift
2. Quick release of fists
3. Push ?scapula winging
4. Finger to nose ? Coarse ataxia
5. Scars on head or neck
135
Difference between spasticity and rigidity 
 spasticity is velocity dependent
136
Where is spasticity maximal?
At extreme extension
137
Complications of L Dopa therapy
Dyskinesia
Impulse control disorders
138
Ddx proximal myopathy
Statin related
Thyroid disorders
Polymyositis
Dermatomyositis
Paraneoplastic
Statin related
139
Myelopathy causes
Very acute - vascular
Acute - compressive eg disc herniation
Days - inflammatory - MS (transverse myelitis) or infective (most likely VZV)
Weeks - Vit b12 -> Subacute combined degeneration of the cord / TB / HTLV1
Months - tumours or neuro degeneration (primary lateral sclerosis)
Positive family history. Consider hereditary spastic paraparesis.
140
Ix Myelopathy
MRI spine - timing dependent on the timing of onset of symptoms
141
Non limb symptom associated with a myelopathy
Consider bladder dysfunction
142
Bloods tests in myelopathy
Check for reversible causes
Cu and B12
143
How to confirm diagnosis of hereditary spastic paraparesis
Genetic testing with NGS
144
Clinical examination of Parkinsonism - DDx
Idiopathic Parkinson's Disease
Parkinsons Plus - PSP / MSA
Vascular Parkinsonism - clasically present with gait abnormality
LB dementia
145
Non-motor symptoms of Parkinson's Disease
Anosmia
Sleep - REM / turning over in bed / broken sleep
Constipation
Cognitive
Mood
Pain
Autonomic dysfunction
146
Medical management of PD
Dopaminergic - Levodopa / Dopamine agonists
MAOi
COMTi
Anti-cholinergics
Can be delivered by tablet, patches, disperisble medications
Dopaminergic medications can also be delivered via a pump, typically in late disease
147
Side-effects of dopaminergic medications
Impulse Control disorders
On-Off phenomenon
148
Management of PD
MDT
Neuro - medical therapy
Physio - improve function and mobility
OT - Improve home and work environment
SLT - review swallow and speech
PD CNS - continuity and support
Role of support groups
149
Signs of parkinonism and cerebellar signs
MSA
150
Sign of PSP
Vertical supranuclear gaze palsy
151
Hemiparesis
Most likely differrential is stroke
152
How to assess speech
Assess understanding of commands
- close your eyes
- 2 step - touch L ear with R hand
Repeat phrases
- baby hippopotamuses
- 42 west register street
Test naming
- Can you tell me what you had for breakfast
- What is this object
153
Management of stroke outside thrombolysis window
A->E manner
once stable
- Take Hx
- Check for mimics - blood glucose (hypoglycaemia) & urine dip (infection)
- ECG
- Bloods - FBC, Renal, Liver, TFTs, HbA1c, cholesterol
- CT head - exclude haemorrhage
- Bedside swallow assessment
- Antiplatelet as soon as haemorrhage ruled out
Management on stroke unit
153
Neuro signs associated with raised ICP
Papilloedema
CN VI palsy
Normal visual fields
154
Features of migraneous headache
Unilateral
Throbbing
Photophobia & phonophobia
Triggers - foods, stress, sleep deprivation
Usually have similar episodes previously
154
Red flags in headache Hx
Very acute onset - maximal intensity in seconds to mins - thunderclap -> subarachnoid haemorrhage
Present with other unwell symptoms ?meningitis
Insidious onset ?SOL
- Worse in early morning
- Associated with visual change or focal neuro defecit
Age >55
155
Tx Migraine
Analgesia
- 1st: Paracetamol + NSAID
- Avoidance of opioid
- Consider triptan therapy in acute phase - oral / nasal / SC
Lifestyle
- Healthy diet / sleep / exercise
- Avoid triggers
Prophylaxis
- Propranolol / Topiramate
156
Inflammatory neuropathies
Acute
- GBS
Chronic
- CIDP
Looks for any extra-neural manifestations - E.g. arthopathy
157
Neuropathy with waxing-waning course
?Inflammatory
?associated with AI disease
158
Patient presenting with chorea - DDx
Acute presentation - hypoglycaemia, polycthaemia & Vascular cause
Autoimmune - SLE-related
Genetic - Huntington's disease (particularly with family Hx)
Post-rheumatic fever - rare in UK
159
Management of Huntington's disease
No Disease-modifying therapy
MDT approach
- OT/PT
- Neuropsychiatry - treat mood disturbance
- Neuropsychology
- Dietician (involuntary movements increase basal metabolic rate)
160
Extra tests to perform in patients with involuntary movements
- Check for bradykinesia
- Check eye movements
161
Patients presenting with weakness, but normal examination - where can lesion be?
NMJ - ?Myasthenia gravis
Myopathy
162
Characteristics of NMH pathology
Should demonstrate a fatiguability on repeated stimulation
163
Differentiating between NMJ and myopathy
Neurophysiological tests
ACh receptor Ab +ve in MG
164
Clinical examination findings & Hx in myasthenia gravis
Fatigue ptosis - should resolve with ice pack placed over eye
Complex opthalmoplegia
Symptoms getting worse by end of day
Worse after exercise
Diplopia, dysphonia, dysphagia
165
Triad miller-fisher
Ataxia, areflexia, opthalmoplegia
166
Treatment of myasthenic crisis
A -> E approach
Monitor FVC
Escalate to senior and ICU ?ventilatory support
Confirm diagnosis with ACh Abs & Neurophysiological studies (single fibre EMG)
CT Chest ?thymoma
167
Medical therapy for myasthenia gravis
Pyridostigmine (cholinesterase inhibitor)
Steroids can be used in acute crisis
May want to consider steroid-sparing agents in longer term
168
What is Lambert-Eaton syndrome
Proximal muscle weakness that improves with repeated use
Associated with pre-synaptic Ca channels
Associated with reduced ACh release
169
Therapies sometimes required in myasthenic crisis
I&V
IVIG
Plasma exchange
170
Combination of UMN and LMN signs in young ataxic patient
In keeping with both a cerebellar and sensory ataxia
In young patient, could be genetic, eg friedrichs ataxia
171
Other Ix in Friedrichs ataxia
Want to do blood tests to rule out reversible causes - E.g. B12
Imaging - mri brain and spine - to rule out compressive pathology
Neurophysiology studies
Diagnosis will be made with genetic testing
172
Common mortality complication in Friedrichs
Cardiomyopathy and arrhythmia
Need serial ECG and echo monitoring
Those with arrhythmia may need cardio referral and iCD
173
Management of MDT
MDT
- neuro
- OT/PT
- orthotics
- genetic conselling
174
Genetics of Friedrichs
Autosomal recessive
Trinucleotide repeat disorder
Disorder of Fratqxin gene
175
Complains of diplopia with normal eye movements. What to check?
Fatiguability of upward gaze
Myasthenia gravis
176
EMG findings myasthenja gravis
Degradation of action potentials with repeated movements
177
Antibodies Myasthenia Gravis
Anti-Achetylchokine receptor abs
Anti-MuSK
178
What is required when someone presents with ocular MG?
Follow up for 2 years as generalisation likely to happen within that time period
179
Management of generalised MG
1. Pyridostigmine
2. Ct chest to rule out thymoma
3. Steroids +/- steroid sparing agents
4. If resistant, consider IVIG
180
Young patient. Leg weakness. Distal atrophy with calf hyper trophy.
Think of muscular dystrophy
181
Types of muscular dystrophy
Duchenne
Beckers
Ocular pharyngeal
Myotonic
Facioscapulohumeral
Limb girdle
182
Typical Ix findings in a muscular distrophy
Raised creatine kinase
EMG demonstrating myopathic changes
MRI to rule out inflammatory causes
Genetic testing to confirm variant
183
Management of muscular dystrophy
MDT management
SLT to assess swallow
Cardiac screening
OT/PT
