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Flashcards in Neurology Deck (188)
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1
Q

Where does damage occur between in an UMN lesion?

A

Damage to motor fibres between pre-central gyrus and anterior horn cells of spinal cord

2
Q

Where does damage occur between in a LMN lesion?

A

Damage to motor fibres between anterior horn cells of spinal cord and peripheral nerve

3
Q

What is the pattern of involvement/distribution in UMN disease?

A

Pyramidal (affects corticospinal tract)

4
Q

What is the difference in pattern of sensory loss between UMN and LMN lesions?

A

UMN: central sensory loss
LMN: glove-stocking/nerve distribution sensory loss

5
Q

What is the difference in pattern of tendon reflexes and tone between UMN and LMN lesions?

A

UMN: hyper-reflexia, hyper-tonia
LMN: hypo-reflexia, hypo-tonia

6
Q

The anterior cerebral artery supplies which parts of the brain? What would be the clinical signs as a result of damage to this artery?

A

Supplies frontal and medial part of the cerebrum

Weakness and numbness in the contralateral leg + arm symptoms

7
Q

The middle cerebral artery supplies which parts of the brain? What would be the clinical signs as a result of damage to this artery?

A

Supplies lateral hemispheres
Contralateral hemiparesis + hemisensory loss in face and arm
Contralateral homonymous hemianopia
Cognitive change - dysphasia, visuo-spatial disturbance

8
Q

The posterior cerebral artery supplies which parts of the brain? What would be the clinical signs as a result of damage to this artery?

A

Supplies occipital lobe

Contralateral homonymous hemianopia with macular sparing

9
Q

List general causes of headache

A
Raised ICP
Infections (meningitis)
Giant cell arteritis
Haemorrhage, trauma
Venous sinus thrombosis
Sinusitis
Acute glaucoma
10
Q

List red flags for headache

A
New onset in over 55 yo
Early morning onset
Known/previous cancer
Immunosuppressed
Exacerbated by Valsalva
Autonomic upset
11
Q

What is the commonest cause of intermittent headache?

A

Migraine

12
Q

What is the proposed pathophysiology of migraine?

A

Vascular constriction-dilation, substance P and 5-HT release, trigeminovascular activation, cerebral hyperactivity
All of the above are proposed to play some role

13
Q

What are some risk factors/aetiology for migraine?

A
Obesity
Excess oestrogen, OCP use
Patent foramen ovale
Genetics
Stress, anxiety
Poor diet
Physical exertion
CHOCOLATE: CHeese, Oral contraceptive, Caffeine, alcohOL, Anxiety, Travel, Exercise
14
Q

What are some prodromal signs of migraine?

A

Yawning
Food craving
Change in sleep/appetite/mood

15
Q

What are some auras that might occur prior to migraine headache?

A

Visual - central scomata/fortification/hemianopia
Motor - dysarthria, ataxia, ophthalmoplegia
Sensory - paraesthesiae

16
Q

What is the criteria for diagnosing migraine without aura?

A

5 or more eps of headache lasting 4-72h
1 of nausea, vomiting, photophobia, phonophobia
2 of unilaterality, pulsating, limiting, worse on activity

17
Q

What is the treatment for acute migraine?

A

NSAID (aspirin, ibuprofen)
Anti-emetic
Triptan (rizatriptan)

18
Q

What drugs can be used for migraine prophylaxis?

A
Propranolol
Topiramate
Amitryptilline
Valproate
Gabapentin
19
Q

What are some contraindications to triptan use?

A

IHD, coronary spasm
Uncontrolled BP
Recent lithium/SSRI use

20
Q

What are trigeminal autonomic cephalgias?

A

Headaches in a unilateral trigeminal distribution with cranial nerve features

21
Q

List the main trigeminal autonomic cephalgias?

A

Cluster headache
Trigeminal neuralgia
SUNCT
Paroxysmal hemicrania

22
Q

What causes cluster headache?

A

Superior temporal artery smooth muscle hyperactivity to 5-HT

23
Q

Describe the presentation of cluster headache, commenting on pain and duration

A

Rapid onset severe unilateral orbital pain
Watery, bloodshot, oedematous eye with miosis
Lasts 15 mins - 3 hours, occurring once or twice a day
Often nocturnal
Clusters last 4-12 weeks with pain-free periods

24
Q

How is cluster headache treated?

A

Acute: high-flow O2, sumatriptan
Prophylaxis: verapamil, topiramate, steroid

25
Q

What causes trigeminal neuralgia?

A

Compression of trigeminal nerve root by e.g. aneurysm, tumour, inflammation
Triggered when pressure applied in trigeminal region

26
Q

Describe the presentation of trigeminal neuralgia, commenting on pain and duration

A

Paroxysmal intense stabbing pain in V2/V3 region
Facial screwing
Triggered typically by washing, shaving, eating, denchers
Lasts 1 - 90 seconds
Can get up 100 eps a day

27
Q

How is trigeminal neuralgia treated?

A
Carbamazepine
Lamotrigine
Phenytoin
Gabapentin
Surgical decompression
28
Q

What is SUNCT?

A

Short Unilateral Neuralgiform headache with Conjunctival infections and Tearing

29
Q

How long does SUNCT typically last?

A

5 seconds - 2 mins

Occurs in frequent bouts

30
Q

How is SUNCT treated?

A

Gabapentin

31
Q

What is paroxysmal hemicrania?

A

Similar to cluster headache but more frequent and shorter

32
Q

How is paroxysmal hemicrania treated?

A

Indomethicin

33
Q

What are the main aetiology/risk factors behind subarachnoid haemorrhage?

A

Rupture of saccular aneurysm
AV malformations
Risk factors includes smoking, alcohol excess, hypertension, bleeding disorder, post-menopause, polycystic kidneys, coarctation of aorta

34
Q

Where are saccular aneurysms usually found?

A

Junction of posterior communicating and internal carotid
Junction of anterior communicating and anterior cerebral
Birfurcation of middle cerebral artery

35
Q

List clinical features of subarachnoid haemorrhage

A
Sudden severe "thunderclap" headache, usually occipital
Vomiting
Collapse
Seizure
Coma
Neck stiffness
Papilloedema
Focal neurological deficit
36
Q

What investigations are done for subarachnoid haemorrhage?

A
CT scan (may be normal or show blood)
LP if CT inconclusive and 12h post-onset - typically bloody (xanthochromatic) CSF
37
Q

Outline treatment of subarachnoid haemorrhage

A

Refer to neurosurgery
Bed rest, support, hydration - aim for systolic BP 160
Nimodipine to reduce vasospasm and ischaemia
Surgery - endovascular coil, clipping, stent, balloon remodelling

38
Q

What are some complications of subarachnoid haemorrhage?

A

Rebleeding
Ischaemia
Hydrocephalus
Hyponatraemia

39
Q

What are the two main intracranial venous thromboses that occur?

A

Deep vein sinus thrombosis (usually sagittal sinus)

Cortical vein sinus thrombosis

40
Q

List some aetiology/risk factors for intracranial venous thrombosis?

A
Pregnancy
Oral contraceptive
Head injury
Dehydration
Malignancy
Recent lumbar puncture
Hyperthyroidism
Nephrosis
Infection
Autoimmunity
Tranexamic acid, infliximab
41
Q

List clinical features of intracranial venous thrombosis

A
Worsens gradually over days
Headache
Vomit
Seizure
Focal neurological signs
42
Q

What investigations are done for intracranial venous thrombosis?

A

CT/MRI sinuses
Exclude SAH and meningitis
LP if high opening pressure

43
Q

Outline treatment of intracranial venous thrombosis

A

Heparin

Streptokinase via catheterisation

44
Q

Where does bleeding come from in a subdural haemorrhage?

A

Bleed from bridging veins between cortex and venous sinuses, causing haematoma between dura and arachnoid

45
Q

List some aetiology of subdural haemorrhage

A
Deceleration injury
Trauma, often forgotten about
Reduced ICP
Tumour mets
Falls
Anticoagulation
46
Q

List clinical features of subdural haemorrhage

A
Fluctuating consciousness
Insidious intellectual slowing
Sleepiness
Headache
Personality change
Focal neurological deficit
47
Q

What does CT/MRI of subdural haemorrhage show?

A

Midline shift

Crescent-shaped haematoma

48
Q

How is subdural haemorrhage treated?

A

Monitor if small
Irrigate/evacuate via burrhole craniosotomy
Craniotomy if organised clot

49
Q

Where does the bleeding occur in an extradural haemorrhage?

A

Bleed due to laceration of middle meningeal artery, causing haematoma between dura and bone

50
Q

List some aetiology of extradural haemorrhage

A

Head injury

Trauma to temple lateral to eye

51
Q

List clinical features of extradural haemorrhage

A
Initial lucid interval with no LOC
Progressive decrease in GCS
Headache
Vomit
Confusion
Fits
UMN signs
Pupil dilation
Comatose
Limb weakness
Abnormal breathing
52
Q

What does CT/MRI show in an extradural haemorrhage?

A

Lens-shaped haematoma

Fracture lines

53
Q

How is an extradural haemorrhage treated?

A

Clot evacuation + ligation of vessel

Mannitol to reduce ICP

54
Q

LP is recommended in extradural haemorrhage. True/False?

A

False

LP is contraindicated

55
Q

List some aetiology of space-occupying lesions

A
Tumour (usually mets from breast, lung, skin)
Aneurysm
Abscess
Chronic haematoma
Granuloma
56
Q

List clinical features of space-occupying lesions

A
Headache, worse on waking/lying down/bending
Papilloedema
Vomiting
Low GCS
Seizures
Focal neurology (esp VI)
Personality change
57
Q

What investigations would you order for suspected space-occupying lesion?

A

CT, MRI

Avoid LP! (coning)

58
Q

Outline treatment for space-occupying lesions

A
Debulking surgery or excision (N.B. rarely accessible)
Carmustine wafers
VP shunt
Chemoradiotherapy
Treat headache and seizures
Dexametasone to reduce oedema
59
Q

Who is particularly at risk of idiopathic intracranial hypertension?

A

Obese women

60
Q

List clinical features of idiopathic intracranial hypertension

A

Blurred vision, diplopia, VI palsy
Enlarged blind spot
Preserved consciousness and cognition

61
Q

Outline treatment for idiopathic intracranial hypertension

A
Weight loss
Acetazolamide
Loop diuretic
Prednisolone
Consider optic nerve sheath fenestration or lumbar-peritoneal shunt
62
Q

What is a seizure?

A

Abnormal spontaneous electrical activity in the brain

63
Q

What is epilepsy?

A

Tendency to have recurrent seizures

64
Q

What are the two types of seizure?

A

Focal: electrical activity in one part of cortex
Generalised: electrical activity involving both hemispheres

65
Q

What is the difference between simple and complex seizures?

A

Simple - no impairment of awareness/consciousness

Complex - impaired awareness/consciousness

66
Q

List some aetiology of epilepsy

A
Genetics
Developmental/structural abnormality
Trauma
Inflammation
Alcohol withdrawal
Space-occupying lesion
Tuberous sclerosis
SLE
Drugs (antibiotics, opioids)
67
Q

Give examples of aura that may precede a seizure

A

Strange feeling/sensations
Deja vu
Altered smell/taste
Seeing lights

68
Q

How does a Jacksonian seizure present?

A

Simple seizure involving unilateral jerk in one body part

69
Q

What is the most common complex focal seizure?

A

Temporal lobe epilepsy involving loss of awareness/deja vu

70
Q

List the main generalised seizures

A

Absence (petit mal)
Tonic-clonic (grand mal)
Atonic
Myoclonic

71
Q

What investigations would you order for epilepsy?

A
ECG in everyone
Bloods, toxicology
CT/MRI
Lumbar puncture
EEG if unsure
72
Q

What is the treatment for focal epilepsy?

A

Carbamazepine

Lamotrigine 2nd line

73
Q

What is the treatment for generalised epilepsy?

A

Sodium valproate
Ethosuximide 2nd line/absence seizures
Lamotrigine can also be used

74
Q

What is the pathophysiology of benign paroxysmal positional vertigo (BPPV)?

A

Debris/otoliths in semicircular canals are disturbed by head movement, causing dizziness

75
Q

List some aetiology of BPPV

A
Idiopathic
Middle ear disease
Head injury
Otosclerosis
Viral illness
76
Q

List clinical features of BPPV

A

Sudden vertigo lasting seconds following head movement

77
Q

Which test is used for BPPV?

A

Hallpike test illicits nystagmus and vertigo

78
Q

Which maneuvre is used to treat BPPV? What other treatment is available?

A

Epley maneuvre

Betahistine

79
Q

What is the pathophysiology of Meniere’s disease?

A

Dilation of endolymphatic space in ear causes dizziness

80
Q

List clinical features of Meniere’s disease

A

Recurrent attacks of vertigo lasting 20+ mins
Sensorineural hearing loss and tinnitus
Nausea, vomiting
Aural fullness

81
Q

Outline treatment for Meniere’s disease

A

Acute: bed rest, antihistamine, surgery
Prophylaxis: low-salt diet, betahistine

82
Q

What is the difference between myelopathy and radiculopathy?

A

Myelopathy: cord compression
Radiculopathy: nerve root compression

83
Q

What is a tremor?

A

Involuntary sinusoidal oscillation of a body part

84
Q

Describe a resting tremor

A

Tremor occurs on rest and abolished on voluntary movement

Typically present in Parkinsonism

85
Q

Describe an intention tremor

A

Tremor occurs on movement, irregular and large amplitude worse at end of purposeful act
Typically present in cerebellar disease

86
Q

Describe an essential tremor

A

Tremor present on maintained posture, usually bilateral

Typically has strong family history

87
Q

Outline treatment options for tremor

A

Propranolol
Primidone
Gabapentin

88
Q

What is dystonia?

A

Involuntary sustained muscle contraction in a body part, leading to abnormal posture

89
Q

Give examples of primary dystonias

A

Torticollis
Blepharospasm
Writer’s cramp
Usually present in childhood, strong family history

90
Q

List aetiology of secondary dystonias

A
Brain injury
Cerebral palsy
Wilson's disease
MS
Parkinson's disease
Drugs (metoclopramide, cyclizine)
91
Q

Outline treatment for dystonia

A

Focal: botox injection
Generalised: anticholinergic (trihexyphenidyl), deep brain stimulation
Maneuvres (breath-holding, arm-cooling)
Muscle relaxants

92
Q

What is chorea?

A

Non-rhythmic jerky purposeless movements

93
Q

Give examples of choreas

A

Facial grimacing
Raising shoulders
Finger/hand movements

94
Q

List causes of inherited choreas

A

Huntington’s chorea
Wilson’s disease
Spinocerebellar ataxia
Sydenham’s chorea

95
Q

List causes of autoimmune choreas

A

SLE
Thryotoxicosis
Antiphospholipid syndrome
Coeliac disease

96
Q

What is the genetic abnormality in Huntington’s chorea?

A

Excessive CAG trinucleotide repeats

Autosomal dominant inheritance

97
Q

What are tics?

A

Brief repeated stereotyped movements that provide relief when performed

98
Q

Give examples of physiological tics

A

Blinking
Clearing throat
Singing out loud

99
Q

What is the commonest tic disorder? How can it be treated?

A

Tourette’s syndrome

Try clonazepam, clonidine

100
Q

What is myoclonus?

A

Brief sudden shock-like contraction, usually affecting distal muscle

101
Q

What is a stroke?

A

Rapid-onset cerebral deficit with focal neurological signs due to vascular ischaemia

102
Q

Which type of stroke is more common - haemorrhagic or ischaemic?

A

Ischaemic stroke

103
Q

List causes of ischaemic stroke

A

Atherothrombosis
Artery stenosis
Emboli

104
Q

List causes of haemorrhagic stroke

A

Hypertension
Bleeding, trauma
Anticoagulant medication
Thrombolysis treatment

105
Q

List risk factors for having a stroke

A
Hypertension
Smoking
Alcohol excess
Low exercise
High cholesterol
Atrial fibrillation
Diabetes
Malignancy
Anti-phospholipid syndrome
Thrombophilia
106
Q

List clinical features of stroke

A
Focal neurological signs relate to cerebral vascular territories
Limb weakness
Facial droop
Altered consciousness
Slurred speech
107
Q

List clinical features of hemisphere infarct

A

Contralateral hemiplegia
Slurred speech
Dysphasia
Homonomous hemianopia

108
Q

List clinical features of a brainstem infarct

A

Quadriplegia
Disturbed vision
“locked-in syndrome”

109
Q

List clinical features of a lacunar infarct

A

Motor and/or sensory deficit

Cognition usually intact

110
Q

What investigations would you order for suspected stroke?

A

ECG
Carotid doppler USS
CT/MR angiography
Bloods - FBC, U+E, glucose, antibodies

111
Q

Outline treatment of acute stroke

A

ABCDE approach
Antiplatelet (once haemorrhagic stroke excluded!) - aspirin 300mg, dipyridamole 200mg
Thrombolysis if not contraindicated
Lifelong warfarin prophylaxis if embolic stroke

112
Q

What is a transient ischaemic attack (TIA)?

A

Temporary occlusion of cerebral circulation, causing focal neurological deficit without impaired consciousness

113
Q

List causes of TIA

A
Atherothromboembolism
Mural thrombus (AF, post-MI)
Valve disease
Hyperviscous blood (polycythaemia, sickle cell)
Vasculitis
114
Q

List clinical features of TIA

A

Single or multiple attacks
Amaurosis fugax - curtain down over vision
Carotid bruit
Signs mimic vascular territory

115
Q

Outline treatment of TIA

A

Control CVS risk
Aspirin 300mg/clopidogrel 75mg
Carotid endarterectomy
Avoid driving for 1 month

116
Q

What is delirium?

A

Acute confusional state involving impaired cognition and fluctating awareness

117
Q

List risk factors/causes of delirium

A

Post-operative period
Infection
Withdrawal from substances
Drugs - opiates, BZD’s, antibiotics, anticonvulsants, levodopa
Metabolic upset (glucose, urea, anaemia, liver failure)

118
Q

List clinical features of delirium

A
Disordered thinking
Euphoria or sedation
Language impairment
Illusions
Reversed sleep-wake cycle
Inattention
Unaware
Memory deficit
119
Q

What investigations would you order for suspected delirium?

A
Bloods - FBC, U+E, glucose, LFT's
Sepsis screen (urinalysis, CXR, culture)
ECG, EEG
Lumbar puncture
CT/MRI
Usually clinical diagnosis, however
120
Q

Outline acute management of delirium

A

Optimise environment, reduce stressors
Hearing aids, glasses
Haloperidol
BZD if alcohol withdrawal

121
Q

What is Parkinson’s disease?

A

Neurodegenerative disorder of dopaminergic neurons in the substantia nigra pars compacta

122
Q

List causes/risk factors of Parkinson’s disease

A
Ageing
Non-smokers
Genetics: LRRK2 (dominant), parkin (recessive)
Lewy body dementia
Post-encephalopathy
Hygeine hypothesis
123
Q

List clinical features of Parkinson’s disease

A
Bradykinesia
Resting tremor
Postural instability
Rigidity
Non-motor features: anosmia, depression, dementia, hallucinations, sleep disorder, autonomic upset
124
Q

What investigations would you order for Parkinson’s disease?

A

Extrapyramidal examination

Dopamine transporter imaging

125
Q

Outline treatment for Parkinson’s disease

A
Levodopa + carbidopa
COMT inhibitor (tolcapone)
Dopamine agonist (bromocriptine)
MAO inhibitor (selegelline)
Education, exercise
Deep brain stimulation
126
Q

What is multiple sclerosis?

A

Inflammatory (T-cell mediated) demyelinating disorder of the CNS

127
Q

What are the different types/subdivisions of MS?

A

Relapsing remitting (most common): relapses with partial/full recovery
Primary progressive: gradually worsening without remission
Secondary progressive: gradually worsening with remissions
Relapsing progressive: secondary progressive with remissions in the progressive phase

128
Q

List causes/risk factors for MS

A
Temperate areas
Females
Early exposure to sublight
Genetics, family history
Epstein-Barr virus
Autoimmunity
129
Q

List clinical features of MS

A

Unilateral optic neuritis
Numbness/tingling in limbs
Paraesthesia
Paraparesis
Weak flexors of arms, extensors of legs (pyramidal)
Brainstem dysfunction - diplopia, nystagmus, vertigo
Cerebellar dysfunction - ataxia, intention tremor

130
Q

What investigations would you order for MS?

A

LP for CSF PCR - shows oligoclonal bands of IgG
MRI shows demyelination
Mainly clinical diagnosis, however

131
Q

Outline treatment of MS and its complications (spasticity, fatigue, sensory disturbance, lower urinary dysfunction)

A
Acute flare: IV steroid (methylprednisolone)
B-interferon 
Biologics
Spasticity - botox, baclofen
Fatigue - amantadine, modafinil
Sensory - gabapentin, amitryptiline
Lower urinary dysfunction - oxybutinin
132
Q

What is dementia?

A

Progressive deficit in cognition and mental function with memory loss

133
Q

List causes/risk factors for dementia

A
Alzheimer's, vascular, Lewy body, frontotemporal
Hypothyroidism
Low B12/folate
Depression
Syphilis
Malignancy
Haematoma
Ageing
Family history, genetics
Vasculitis
Infection
134
Q

List clinical features of dementia

A
Wandering
Aggression
Flight of ideas
Irritability
Repetitive behaviour
Memory loss
135
Q

What investigations would you do for dementia?

A

Cognitive tests (AMTS, Addenbrooke’s)
MMSE
Bloods - FBC, U+E, glucose
CT scan to exclude structural lesions

136
Q

List clinical features of vascular dementia

A

Previous CVS events (strokes, lacunar infarcts)
Sudden-onset
Stepwise deterioration

137
Q

What are Lewy bodies?

A

Tangled tau and alpha-synuclein proteins that deposit in cortex and brainstem in Lewy body dementia

138
Q

List clinical features of Lewy body dementia

A

Fluctuating cognitive impairment
Visual hallucinations
Parkinsonism

139
Q

List clinical features of frontotemporal dementia

A
Personality and behaviour changes
Executive impairment
Early preservation of memory
Disinhibition
Stereotyped behaviour
140
Q

What is the pathophysiology of Alzheimer’s disease?

A

Deposition of B-amyloid plaques (breakdown product of amyloid precursor protein), causing neuronal damage, loss of ACh and neurofibrillatory tangles of tau

141
Q

Which genetic allele is associated with Alzheimer’s?

A

apoE4

142
Q

List clinical features of Alzheimer’s disease

A
Loss of visuospatial skill
Language difficulty
Forgetfullness
Lack of insight
Impaired organisation and planning
Depression
143
Q

What structural changes occur in Alzheimer’s disease?

A

Neuronal loss in hippocampus, amygdla, temporal cortex and Nucleus basalis of Meynert

144
Q

Outline treatment of Alzheimer’s disease

A

Support and symptom relief, specialist care
Palliative (BZD’s, antipsychotic)
Cholinesterase inhibitor (donepezil)
NMDA antagonist (memantine, rivastigmine)
Antidepressants

145
Q

What is myasthenia gravis?

A

NMJ disorder caused by autoimmunity to post-synaptic ACh receptors

146
Q

List causes/risk factors for myasthenia gravis

A

Females
Thymic hyperplasia
Autoimmunity

147
Q

List clinical features of myasthenia gravis

A

Increasing muscular fatigue and weakness, tends to start in eyes (ptosis)
Bulbar palsy (chewing, swallowing difficulty)
Dysphonia

148
Q

What investigations would you do for myasthenia gravis?

A
Anti-ACh receptor antibody
Anti-MuSK antibody
Neurophysiology - EMG
CT thymus (thymoma)
Tensilon test (edrophonium improves power)
149
Q

Outline treatment for myasthenia gravis

A

Acetylcholinesterase inhibitor (pyridostigmine)
Immunosuppression (prednisolone, azathioprine)
Thymectomy + IV Ig

150
Q

What treatment is given in myasthenia crisis?

A

Ventilatory support
Plasmapharesis
IV Ig

151
Q

What is Lambert Eaton Myasthenic Syndrome?

A

NMJ disorder due to autoimmune destruction of pre-synaptic Ca channels

152
Q

Which cancer is LEMS associated?

A

Small cell lung cancer

153
Q

Outline treatment of LEMS

A

3,4-diaminopyridine

IV Ig

154
Q

What inheritance pattern do Duchenne/Becker muscular dystrophy follow? Which protein is affected?

A

X-linked recessive disorders in dystrophin production, a component of the cytoskeleton

155
Q

List clinical features of Duchenne muscular dystrophy

A

Gower’s sign (walk up body to stand up)
Calf pseudohypertrophy
Proximal limb weakness
Respiratory failure, leading to death

156
Q

What investigations would you order for suspected muscular dystrophy?

A

CK

Muscle biopsy

157
Q

What is the commonest muscular dystrophy?

A

Myotonic dystrophy

158
Q

What inheritance pattern does myotonic dystrophy follow? Which protein is affected?

A

Autosomal dominant Cl- channelopathy

159
Q

List clinical features of myotonic dystrophy

A
Distal weakness
Myotonia
Hand/foot drop
Facial weakness
Male frontal baldness
Cataracts
Genital/gonadal atrophy
Cognitive impairment
160
Q

What investigations would you order for myotonic dystrophy?

A

Glucose intolerance
Histology - central nuclei
Low levels of IgG

161
Q

What treatment options may be tried for myotonic dystrophy?

A

Phenytoin

Procainamide

162
Q

What happens in motor neuron disease?

A

Progressive degeneration of motor neurones in the motor cortex, cranial nerve nuclei and anterior horn cells

163
Q

Is sensation usually preserved in motor neurone disease?

A

Yes

164
Q

List causes/aetiology of motor neuron disease

A

Genetics - hexanucleotide repeat in C9ORFT22 on c9

Family history

165
Q

List clinical features of motor neurone disease

A
Focal onset of weakness with continuous spread
Usually affects upper extremities
UMN/LMN signs
Stumbling spastic gait
Foot drop
Weak grip
166
Q

What treatment options are there for motor neuron disease?

A

MDT and supportive care
Anti-glutaminergic (riluzole)
Ventilatory support

167
Q

List the main phenotypes of motor neuron disease

A

Amyotrophic lateral sclerosis
Progressive muscular atrophy
Progressive bulbar palsy/pseudobulbar palsy
Primary lateral sclerosis

168
Q

Does amyotrophic lateral sclerosis affect UMN or LMN?

A

Both UMN and LMN involvement!

169
Q

Does progressive muscular atrophy affect UMN or LMN?

A

Purely LMN - lesion of anterior horn cells

170
Q

What part of the CNS does pseudobulbar palsy affect?

A

Cranial nerves IX, X, XI, XII

Purely UMN lesion

171
Q

Does primary lateral sclerosis affect UMN or LMN?

A

UMN lesion - loss of Betz cells in motor cortex

172
Q

What is mononeuropathy?

A

Lesion of individual peripheral or cranial nerve

173
Q

List causes/aetiology of mononeuropathy

A

Trauma or pressure
Haemorrhage
Nerve entrapment
Tumour invasion

174
Q

What is mononeuritis multiplex? List some causes

A

Lesion of 2 or more peripheral nerves at the same time

Causes include GPA, AIDS, amyloid, rheumatoid, diabetes, sarcoid

175
Q

List clinical features of mononeuropathy

A

Pain
Weakness
Paraesthesiae
Usually in distribution of specific nerve affected

176
Q

How might mononeuropathy be treated?

A

Surgical decompression
Rest, heat, NSAID
Splint
Steroid

177
Q

What are the roots of the median nerve? Mononeuropathy of this nerve causes what clinical signs?

A

C6, C7, C8, T1
Weak abductor pollicis brevis
Reduced sensation of radial 3.5 digits
(Carpal tunnel syndrome)

178
Q

What are the roots of the ulnar nerve? Mononeuropathy of this nerve causes what clinical signs?

A
C7, C8, T1
Weak wrist flexors
Hypothenar wasting
Claw hand
Reduced sensation over medial 2.5 digits
179
Q

What are the roots of the radial nerve? Mononeuropathy of this nerve causes what clinical signs?

A

C5, C6, C7, C8, T1
Wrist/finger drop
Reduced sensation in anatomical snuff box

180
Q

What are the roots of the phrenic nerve? Mononeuropathy of this nerve causes what clinical signs?

A

C3, C4, C5
Orthopnoea
Raised hemidiaphragm

181
Q

What are the roots of the sciatic nerve? Mononeuropathy of this nerve causes what clinical signs?

A

L4, L5, S1, S2, S3
Weak hamstrings
Foot drop
Numbness and tingling down back of leg

182
Q

What are the roots of the common fibular nerve? Mononeuropathy of this nerve causes what clinical signs?

A

L4, L5, S1
Foot drop
Weak dorsiflexion/eversion
Reduced sensation over dorsum of foot

183
Q

What are the roots of the tibial nerve? Mononeuropathy of this nerve causes what clinical signs?

A

L4, L5, S1, S2, S3
Weak plantarflexion/inversion
Reduced sensation over plantar of foot

184
Q

What is polyneuropathy?

A

Symmetrical generalised nerve lesions of peripheral/cranial nerves
Can be acute/chronic, motor/sensory/autonomic/mixed

185
Q

List causes/aetiology of polyneuropathy?

A

Motor: Guillan Barre syndrome, lead poisoning, Charcot
Sensory: diabetes, renal failure, leprosy

186
Q

List clinical features of polyneuropathy

A

Progressive paraplegia
Difficulty walking
UMN/LMN signs
Numbness, tingling in glove-stocking distribution

187
Q

What investigations would you order for polyneuropathy?

A

Bloods: FBC, U+E, ESR, glucose, LFT, TSH, B12, antibodies
LP for CSF - albuminocytologic dissociation
EMG distinguishes demyelination from degeneration

188
Q

What treatment options are there for polyneuropathy?

A

Physio, OT, podiatry
Splinting
IV Ig for Guillan Barre
Steroid