Neuro Paces Flashcards
1
Q
How to test upper limb myotomes and peripheral nerve
A
C5- shoulder abduction
C6- elbow flexion and wrist extension
C7- elbow extension
C8- thumb extension
T1- finger abduction
Median - flexion and pronation
Ulnar- flexion of ring and little finger DIP, intrinsic muscles of the hand
Radial- extension
2
Q
How to differentiate ulnar nerve palsy from C8/T1 pathology
A
Abductor pollicis brevis would be weak in a C8-T1 lesion, it is supplied by the median nerve
Normal sensation in T1 if ulnar lesion
3
Q
What are the signs of an ulnar nerve palsy?
A
- Relevant scar
- ‘Ulnar claw’ Extension at 4th and 5th metacarpal phalangeal joint and flexion at distal joint
- Wasting of small muscles of the hand
- Weak abduction of fingers
- Normal strength in abductor pollicis brevis
- Altered sensation in ulnar distribution
4
Q
Types of diabetic neuropathy
A
- Distal symmetric polyneuropathy - progressive distal sensory loss in a glove and stocking distribution results in axonal loss in nerve conduction studies, motor involvement in severe cases
- Autonomic neuropathy- postural hypotension, gastroparesis, gustatory sweating, resting tachycardia
- Diabetic amyotrophy- microvasculitis presents with asymmetric pain then weakness in the proximal leg along with weight loss
5
Q
Causes of peripheral neuropathy
A
Inherited
- Charcot Marie Tooth
Acquired
V
Infection
- HIV (distal sensory, painful)
- Lyme disease
T
Autoimmune / inflammatory:
- CIDP (relapsing course, not length dependent)
- Connective tissue disease (RA, sjogren, SLE, sarcoidosis)
- GBS
Metabolic:
- Diabetes (chronic, sensory predominant, length dependent)
- B12, B1, B6 deficiency
- Uraemia
- Hypothyroidism
- Lead
Idiopathic:
- Acute intermittent porphyria
Neoplastic:
- Paraprotrinaemic (myeloma or MGUS)
- Paraneoplastic (most commonly lung ca)
Drugs:
- isoniazid
- pyridoxine
- chemotherapy (vincristine)
DD
6
Q
Investigating diabetic neuropathy
A
Bedside: urinalysis
Bloods: fasting glucose, HbA1c, B12 / folate,
S -
R -
Extras: nerve conduction studies:
- Sensory axonal loss with reduced or absent sensory nerve action potentials in a length- dependent manner with the legs being most affected
7
Q
Management of diabetic neuropathy
A
MDT:
Diabetic foot team - PT, OT, orthotics, podiatrists, DSN, orthopaedics, endocrinologists,. microbiologist. Educate about necessity of foot care.
Prevention:
Optimise diabetes control
Medical management:
Postural hypotension - fludrocortisone
GI symptoms - prokinetics and antiemetics
8
Q
Clinic signs of hereditary sensory motor neuropathy (Charcot Marie Tooth)
A
Wasting of distal lower limb muscles with preservation of the thigh muscle bulk
Pes cavus
Stocking distribution sensory loss
High steppage gait due to foot drop and stamping due to loss of proprioception
Wasting of hand muscles
Palpable lateral popliteal nerve
9
Q
What causes hereditary sensory motor neuropathy
A
Most common types are I (demyelinating) and II (axonal) therefore nerve conduction studies are useful
Autosomal dominant inheritance (test for PMP22 mutations in HSMN I)
10
Q
Tests for Hereditary Sensory motor neuropathy
A
Bedside
Bloods:
Secretions:
Radiology:
Extras: Nerve conduction studies, genetic testing
11
Q
Management of HSMN
A
MDT: PT/OT, orthotics
Genetics: Genetic counselling
12
Q
Causes of predominantly sensory peripheral neuropathy
A
V:
**Infection: **
* HIV
* Treponema infection (syphilis)
T:
Autoimmune / inflammatory:
* Acute - GBS
* Chronic - CIDP
**Metabolic: **
* DM
* Alcohol
* Uraemia
* Hypothyroid
* B12 and B1 deficiency
I:
Neoplastic / paraneoplastic processes
**Drugs: **
* Isoniazid
* Vincristin
* Phenytoin
D:
D:
13
Q
Causes of predominantly motor peripheral neuropathy
A
V:
Infection:
* Diphtheria
* HIV
* Botulism (acute)
T:
Autoimmune / inflammatory:
* GBS (acute)
**Metabolic: **
Lead
**Idiopathic: **
* Acute intermittent porphyria
N:
D:
D:
D:
Congenital / genetic:
* HSMN (Charcot marie tooth)
14
Q
Causes of mononeuritis multiplex
A
V:
Infection: HIV
T:
Autoimmune / inflammatory :
- Connective tissue (SLE, RA),
- Vasculitis
Metabolic: DM
I
Neoplastic: malignancy
D:
D:
D:
15
Q
What causes a central scotoma?
A
Optic nerve disease eg. Optic neuritis
Affects ipsilateral side
16
Q
What causes a bitemporal haemianopia?
A
Chiasmal lesion
Upper fields worse affected in pituitary tumours
Lower fields worse affected in craniopharynhiomas
17
Q
What causes a homonomous superior quadrantanopia?
A
Temporal lobe lesion
18
Q
What causes a homonymous inferior quadrantanopia?
A
Parietal lobe lesion
19
Q
What causes a homonymous hemianopia?
A
Post chiasmal lesion, the more congruous the more posterior the lesion is
A posterior cerebral stroke can cause macular sparing due to dual blood supply
20
Q
What is the Pathophysiology of MS?
A
BBB is more permeable to immune cellls. T cells enter the CNS. T cells attack the myelin sheath leading to inflammation.
21
Q
How does MS present?
A
Sensory- Parasthesia, hypoaesthesia, pain, MS hugs
Optic neuritis- diminished visual acuity, decreased colour perception, periorbital pain preceding vision loss
Weakness- exercised induced weakness is characteristic, UMN signs
Spasticity
Bladder dysfunction
Constipation
Sexual dysfunction
Uthoff’s phenomenon- symptoms worse after hot bath
Lhermitte’s sign- lightening pains down the spine on neck flexion due to cervical cord plaques
22
Q
Causes of Horner’s pupil
A
Ptosis / myosis / anhydrosis / enophthalmos (sunken eye)
1st order (brainstem)
* stroke (wallenbergs)
* MS
2nd order - spinal cord
* syrinx
3rd order [no anhydrosis]
* aneurysm
* Trauma
* Pancoast
23
Q
Disease course of MS
A
Relapsing remitting
Secondary progressive
Primary progressive
24
Q
Differentials for MS
A
Infection/ inflammation
Infection - HIV encephalitis / lyme disease
Inflammatory - neuromyelitis optica, ADEM (Acute disseminated encephalomyelitis) and CNS lupus/vasculitis
**Congential **
Mitochondial disease - MELAS
Acquired
V: recurrent TIA / stroke, CADASIL / fabry’s antiphospholipid syndrome
Infection: HIV enchephalitis / Lyme disease / syphilis / brucellosis / progressive multifocal leicoencephalopathy
T:
Autoimmune / inflammatory:
- Neuromyelitis optica
- Shortens
- ADEM (Acute disseminated encephalomyelitis)
- CNS lupus/vasculitis
Metabolic: B12 deficiency
Idiopathic: mitochondrial disease
NDDD
25
Diagnosis and investigation of MS
Need to prove dissemination of disease activity in time and space.
1. Clinical history
2. MRI
3. Unpaired oligoclonal bands in the CSF (not specific for MS, occur in 85% of cases)
26
Chronic management of MS
MDT: PT, OT, orthotics, social worker, neurologist, CNS, psychologist
Mild disease
- DMARDS - interferon B and glariramer reduce relapse rate but don’t affect prognosis
Severe disease (2 disabling replaces in 1yr)
- Biologics (-mabs)
- Stem cell transplantation
Manage complications of MS
27
Management of acute MS flare
Rule out psueudo relapse (ie. Worsening of existing symptoms by underlying stressor eg. Infection
Methyl pred
28
Management of MS complications
Spasticity - baclofen
Mood - anti- depressants
Pain - neuropathic analgesics
Bladder symptoms - antichoniergics/self catherisation
29
How is MS affected by pregnancy?
Reduced relapse rate in pregnancy
Increased risk of relapse in postpartum
30
What causes MS?
Both genetic (HLA-DR2 and interleukin 2&7 receptors) + environmental factors (EBV)
31
Clinical signs of cerebellar syndrome
Dysdiadochokinesis
Ataxia
Nystagmus
Intention tremor
Scanning dysarthria
Hypotonia/ hyporeflexia
32
How does the direction of nystagmus help determine side on the lesion?
The fast phase of the nystagmus is towards the side of the lesion and is maximal on looking towards the lesion
33
Causes of cerebellar syndrome
Vascular: Stroke (hemorrhagic or embolic or thromboembolic)
I:
Trauma: traumatic brain injury causing bleed
Autoimmune / inflammatory:
- MS
Metabolic:
- Alcohol related cerebellar degeneration
- Hypothyroidism
Idiopathic:
- Fredrich’s ataxia and ataxia telangiectasia
Neoplastic:
- SOL in posterior fossa
- Paraneoplastic
Drugs: phenytoin toxicity
D:
D:
34
Clinical signs pointing to different causes of cerebellar syndrome
Internuclear ophthalmoplegia, spasticity, younger female = MS
Optic atrophy = MS or Fredrichs ataxia
Clubbing/ cigarette fingers, radiotherapy burn = bronchial carcinoma
Liver disease = alcohol excess
Neuropathy = alcohol or fredrichs ataxia
Gingival hypertrophy = phenytoin
35
What happens in internuclear ophthalmoplegia?
The side of the brain affected is the same side as the eye that cannot adduct. Eg. A left sided lesion will result in the left eye not addicting when looking right and the right eye will have nystagmus.
Caused by a lesion affecting the medial longitudinal fasciculus (a heavily myelinated tract).
36
How can you differentiate sensory ataxia from cerebella ataxia
Sensory ataxia - impaired sensation particularly vibration and joint position, pseudoathetosis, able to finger nose test with eyes open but not with eyes closed
Cerebella ataxia - other cerebellar signs
37
How does ALS present?
UMN and LMN signs
Upper limb weakness> lower limb weakness
Fasciculations
Asymmetrical
Slurred speech
Dysphagia/dysarthria
38
How does progressive bulbar palsy present?
MND -poor prognosis
Affects lower cranial nerves (IX-XII)
- Facial muscle weakness
- Dysphagia
- Dysarthria
Emotional lability
39
How does progressive muscular atrophy present
Type of MND - best prognosis
LMN- Fasciculations, muscle weakness
Muscle atrophy - shoulders, arms and hands
40
How does primary lateral sclerosis present?
Type of MND- very rare - exclusively UMN
Spastic weakness of the limbs
Spastic dysarthria
Dysphagia
Aggressive course
41
How is a case of suspected MND investigated?
Bedside:
Bloods:
- Routine bloods
- Vitamin level
- CK assay
- Anti-GM1 antibodies (multifocal motor neuropathy / guillian barre)
Secretions:
Radiology:
- MRI (cervical myelopathy, cord compression, brainstem lesionsx)
Extras:
- EMG showing Fasciculations
- Nerve conduction studies
- Muscle biopsy
- Serum protein electrophoresis
42
What is Kennedy disease?
X linked spinobulbar muscular atrophy
Associated with a CAG trinucleotide repeat mutation
Lower motor neurone disease
Causes progressive weakness and wasting of the limb and bulbar muscles with an absence of spasticity and slight sensory neuropathy
Associated with gynaecomastia and reduced fertility
43
What are Fasciculations?
Axonal loss causing axons to recruit and innervate more myofibrils than usual resulting in large motor units
Commonly seen in syringomelia and MND
44
Causes of myelopathy
**Congenital**
Hereditary spastic paraplegia
**Acquired**
Vascular: Anterior spinal cord thrombosis
Infection: discitis / transverse myelitis
Trauma:
Autoimmune / inflammatory: MS
Metabolic: B12 deficiency / nitrous oxide use -> subacute combined degeneration of the cord (absent reflexes with upgoing plantars)
Idiopathic:
Neoplastic: Spinal cord compression
D:
D:
Degeneration: Syringomelia, spinal stenosis
45
Lower limb myotomes
Hip flexion - L2/3
Knee extension - L3/4
Foot dorsiflexion- L4/5
Knee flexion - L5/S1
Foot plantarflexion - S1/2
46
Causes of generalised wasting of hand muscles
Anterior horn cell
- MND
- syringomelia
- cervical cord compression
- polio
Brachial plexus
- cervical rib
- Pancoast’s tumour
- trauma
Peripheral nerve
- combined median and ulnar nerve lesion
- peripheral neuropathy
Muscle
- disuse atrophy
47
What are the key features of Kennedy disease?
Inherited (x-linked recessive - MEN AFFECTED) neuromuscular disorder
* Progressive weakening and wasting of the muscles and bulbar involvement.
* Associated with gynaecomastia and reduced fertility
48
How does poliomyelitis present?
Acute presentation of polio (polio = poliomyelitis)
GI prodrome.
Acute flaccid paralysis, typically unilateral.
LMN -> Reduced reflexes and atrophy of the affected limb
49
How to differentiate cause of myelopathy
Sensory level which might suggest where the lesion is
Scars or spinal deformity
Signs of MS
Bladder symptoms/catheter
Suggest testing anal tone
50
Clinical signs of myelopathy
Bilat UMN signs: hypertonia, ankle clonus, generalised weakness, hyperreflexia with up going plantars
Sensory level
51
What is post- poliomyelitis syndrome?
Unilateral flacid weakness of affected limb
52
How does GBS present?
Acute progressive ascending peripheral neuopathy with LMN signs including hyporeflexia and flacid paralysis.
Can affect diaphragm and so need regular monitoring FVC on either high care or critial care unit
GI prodrome
53
Differential diagnosis for GBS?
CIDP if more chronic onset of symptoms
54
Investigations for GBS
CSF: normal wcc and glucose with raised protein
NCS: delayed conduction velocities indicating demyelination of peripheral nerves
Spirometry to monitor FVC
55
Treatment of GBS
MDT- crit care / neuology / close monitoring (higher care / resus setting) PT/OT
Medical management
- IVIG and plasma exchange
Symptoms / prevention of complications
- Analgesia
- Ventilatory support
- Nutritional support
- Pressure areas
56
Causes of spastic paraparesis
Group based on onset time:
Gradual onset -
* Frederichs ataxia, hereditary spastic paraparesis
* subacute combined degeneration of the cord,
Acute - spinal cord compression, transverse myelitis
Hyper acute- vascular (less likely to spastic, more likely spastic shock)
57
Investigating spastic paraparesis
Family history (hereditary spastic paraparesis / fredricks ataxia)
Bedside: PR (anal tone), bladder scan (urinary retention)
Bloods: Check b12 / copper
Radiology: MRI spine - urgency depends on time of onset / red flag Sx (discitis / transverse myelitis / MSCC)
58
Clinical signs of spastic paparesis
Symmetrical UMN signs (increased tone, hyperreflexia, clonus, weakness, extensor plantars)
Scissoring gait
Wheelchair/ walking aides
Signs to look for cause:
Assess for sensory level
Check back for scars or deformity
MS signs
Anal tone
59
Clinical presentation of Parkinson’s
Triad of: bradykinesia, rigidity (cog wheel) and resting tremor (unilat pill rolling)
Gait
- Difficulty initiating gait
- Shuffling gait
- Postural instability
- Reduced arm swing
Bradykinesia
- Reduced blink frequency
- Mask like facies
Other manifestations
- Depression, fatigue, sleep disturbance
- Cognitive impairement
- Postural instability
Dysphasia
Micrographia
Hypophonia
Freezing
Anosmia
60
Signs and symptoms more consistent with Parkinson’s disease
Unilateral onset and persistent asymmetry
Resting tremor
Good response to levodopa
Long disease course
61
Differential diagnosis for Parkinsonism
Idiopathic parkinsons (!)
Drug induced (neuroleptics, antiemetics, valproate) - perioral or tongue involuntary movements
Vascular parksinons
Dementia with Lewy bodies (Dementia, hallucinations)
**Parkinsons plus syndromes**
* CBD - Corticobasal degeneration (alien limb, myclonus, dystonic posturing due to cortex degeneration)
* MSA - Multiple system atrophy (postural hypotension, impotnece, urinary incontinence, cerebellar signs)
* PSP - Progressive supranuclear palsy (vertical gase palsy)
Normal pressure hydrocephalus (cognitive decline, gait apraxia, urinary incontinence)
62
Signs/ symptoms consistent with multiple system atrophy
Prominent early autonomic features (postural hypotension, urinary incontinence, erectile dysfunction)
Cerebellar signs
Prominent pyramidal signs (as well as extrapyramidal signs)
Poor levodopa response
63
Sighs and symptoms consistent with progressive supranuclear palsy
Vertical supranuclear gaze palsy
Early falls (within first year)
Early dementia
Poor levodopa response
64
What is the aetiology of Parkinson’s disease?
Early onset Parkinson’s is associated with mutation of the PARK-1 gene encoding alpha synuclein
Around 20% of cases of Parkinson’s have a first degree relative affected
65
What medications can cause Parkinsonism?
Antipsychotic drugs
Metoclopramide
Prochlorperazine
Sodium valproate
Lithium
66
How is Parkinson’s diagnosed?
Clinical diagnosis - if at least 2/4 clinical signs
SPECT
CT/MRI to rule out alternative causes
67
Management of Parkinson’s disease
1) Levodopa + dopa decarboxylase inhibitor
2) Dopamine agonist (eg. Pramipexole, ropinirole, rotigotine)
3) MAO-B inhibitors (selegiline)
4) COMT inhibitors (eg. Entacapone)
DBS
68
Pathology of Parkinson’s disease
Degeneration of the dopaminergic neurones between the substantia nigra and basal ganglia
69
Differential diagnosis for tremor
Resting tremor: Parkinson’s
Postural tremor: benign essential tremor, anxiety, thyrotoxicosis, co2, hepatic, alcohol
Intention tremor: cerebellar disease
70
Causes of ischaemic stroke
Thrombotic, most commonly caused by atherosclerosis
Embolic, most common in patients with AF, but also valve defects or endocarditis
71
Causes of haemorrhagic stroke
Intracranial haemorrhage most commonly secondary to uncontrolled hypertension
SAH secondary to AV malformations or Berry aneurysms
72
Risk factors for stroke
Hypertension
DM
Hypercholesterolaemia
AF
IE
Carotid artery disease
CCF
congenital/structural heart disease
Age
Genetics
Gender
Sickle cell disease
Antiphospholipid syndrome
CKD
Smoking
Alcohol
73
What is the Pathophysiology of ischaemic stroke
Acute occlusion of an intracranial vessel leads to reduced blood flow to the brain region supplied by the vessel resulting in infarction via 2 pathways:
1. Necrotic pathway with rapid cytoskeletal breakdown
2. Apoptotic pathway
74
Bamford classification of stroke
TACS- contralateral hemiplegia, homonomous hemianopia, higher cortical dysfunction (ie. Aphasia, dyspraxia, neglect)
PACS- 2/3 of the above
LACS- pure hemi- motor/sensory loss
POCS- cranial nerve impairement, unilateral or bilateral sensory/motor impairment, disorder of conjugate eye movement, cerebellar dysfunction, homonymous hemianopia, cortical blindness
75
Management of suspected stroke
History+ collateral (onset time, functional baseline)
Examination
BM
ECG
CT head
+/-CT perfusion
MRI
Echo
Carotid doppler
Clotting screen and vasculitis screen if young
76
Management of ischaemic stroke
<4.5 hours from symptoms onset- thrombolyse with alteplase, start aspirin 24 hrs after thrombolysis
If cannot thrombolyse consider perfusion imaging +/- thromboectomy
If not able to do the above then 300mg aspirin as a stat and continue for 2 weeks, then long term clopidogrel
77
Management of haemorrhagic stroke
Control BP
Neurosurgical discussion
78
Management of TIA
Aspirin 300mg stat and continue for 2 weeks then clopi.
Start statin immediately
Stroke review within 24 hours
If crescendo TIA, ongoing neurological symptoms, severe cardiac stenosis or suspected cardio- Embolic cause they need admission
79
When is a decompressive hemicraniectomy considered in stroke?
Clinical deficits which suggest an infarct in the middle cerebral artery with a NIHSS score of > 15, decreased consciousness, signs on CT of an infarct of at least 50% of the middle cerebral artery territory
80
MRC power grade
0- none
1- flicker
2- moves with gravity neutralised
3- moves against gravity
4. Reduced power against resistance
5. Normal
81
Common triggers for migraine
Stress
Menstruation
Fasting/missed meals
Caffeine
Irregular sleep pattern
82
Risk factors for developing chronic migraine
Sleep disorders
Excessive use of anti- migraine medication
Emotional stress
Obesity
Increased episodic migraine attacks
Anxiety/depression
Head injury
83
Clinical presentation of migraine
Unilateral pulsation headache
Photophobia
N&V
Zigzags, scotoma or flashing lights in vision
Increased sense of smell
Dizziness
Pins and needles
Prodrome and postdrome
84
Important points to examine in headache history
Fundoscopy
Eye movements (palsy and nystagmus)
Visual fields
Cerebellar signs
Localising signs
85
Red flag symptoms for headache
Sudden onset
New and persistent headache
Age >50
Early morning headache
Postural symptoms
Fevers/rash/neck stiffness/photophobia
86
Management of migraine
Education
Avoid analgesia over use
Stop COCP
Simple analgesia
Triptans
Antiemetic
Prophylaxis- propranolol, topiramate, amitriptyline
87
Investigating polyneuropathy
FBC
B12
Fasting glucose/HbA1c
LFTs
U&Es
TFTS
Serum immunoglobulins and electrophoresis
NCS
EMG
CT/MRI/ nerve biopsy
88
What is the aetiology of Huntington’s disease?
Caused by mutations in the Huntington gene on chromosome 4 encoding a CAG- repeat expansion within the gene.
It has the genetic characteristics of complete penetrance and anticipation whereby earlier age of onset occurs in later generations due to expansion of the CAG repeat
89
Clinical presentation of Huntingtons
- prodrome of mild psychotic and behavioural symptoms
- chorea
- slow saccadic eye movements
- psychosis
- depression
- irritability
- dementia
90
Differential diagnosis for chorea
Huntington’s
SLE
Wilson’s
Stroke (asymmetrical)
Hypoglycaemia
Polycythaemia
Sydenham’s chorea (group a beta haemolytic strep)
91
Diagnosis of Huntingtons
FHx (inc. missed diagnosis ie. Psychiatric illness)
MRI shows changed in mod-severe disease
Genetic testing
Testing for alternative cause
92
Management of Huntingtons
MDT
Neurologist
Neuropsychologist
Dietitian (increased BMR)
Occupational and physical therapists
93
What causes myasthenia gravis?
Acquired autoimmune condition caused by autoantibodies against post-synaptic neuromuscular junction receptors
94
How does myasthenia gravis present?
Fatiguable weakness
Ptosis
Diplopia
Proximal weakness
Loss of facial expression
Dysarthria
Dysphagia
Slurred speech
Dysphonia
95
How would you investigate myasthenia gravis?
Anti- AChr antibodies in 90% of cases
Anti- MuSK (muscle specific kinase) antibodies in 10% of cases particularly Afro Caribbean
EMG: decremented response to a titanic train of impulses and EMG jitter
Tensilon test - less used now due to risk of cardiac arrest (have arrest trolley and atropine ready)
CT mediastinum to look for thymoma
TFTS (Graves present in 5% of cases)
Spirometry
Assess for infection in myasthenia crisis
96
Treatment of myasthenia crisis
Spirometry
Screen for infection
Critical care input if:
- FVC <20ml/kg
- progressive decline in FVC
- can’t manage secretions
- sniff nasal insp pressure <40
- can’t complete sentences or lift head off pillow
IVIg and plasmapheresis
97
Treatment of myasthenia gravis
Sussman protocol (steroids and pyridostigmine)
Steroids- uptitrating, at risk of steroid dip, if significant symptoms they need inpatient monitoring
Pyridostigmine (cholinesterase inhibitor)
Steroid sparing agents (MMF, aza, ect.)
Thymectomy
98
What is Lambert- Eaton myasthenic syndrome?
Diminished reflexes that become brisker after exercise
Lower limb girdle weakness
Associated with malignancy eg. Small cell lung cancer
Antibodies block pre-synaptic calcium channels
EMG shows a second wind phenomenon on repetitive stimulus
99
How does Fredereich’s ataxia present?
Young adult
Wheelchair
Ataxic gait
Pes cavus
Bilateral cerebellar ataxia
Leg wasting with bilateral upgoing plantars and absent reflexes
Posterior column signs ( loss of vibration and joint position sense)
Kyphoscoliosis
HOCM
Optic atrophy
Hearing loss
100
What causes Fredreich’s ataxia?
Autosomal recessive
Defect in the FXN gene which carries the code for the frataxin protein
GAA repeat expansion
Mutations cause oxidative injury associated with excessive iron deposits in the mitochondria
101
How would you investigate someone with suspected Friedreich’s ataxia?
NCS
Genetic analysis
ECG
Exclude vitamin E deficiency
MRI - atrophy changes
102
Treatment of Friedreichs ataxia
MDT
Physio
SALT
OT
Monitor cardiac function
103
What are the clinical signs of dystrophia myotonica?
Myopathic facies
Wasting of facial muscles and SCM
Bilateral ptosis
Frontal balding
Dysarthria
Percussion myotonia- percuss thenar eminence and watch for involuntary thumb flexion
Cataracts
Cardiomyopathy
Diabetes
Testicular atrophy
Dysphagia
104
What causes dystrophia myotonica?
Type 1: expansion of CTG trinucleotide repeat sequence within DMPK gene on chromosome 19
Type 2: expansion of CCTG tetranucleotide repeat sequence within ZNF9 gene on chromosome 3
Autosomal dominant
Genetic anticipation present
105
How is dystrophia myotonica diagnosed?
Clinical features
EMG: Dive-bomber potentials
Genetic testing
106
How is dystrophia myotonica managed?
Phenytoin may help myotonia
Advice against GA
MDT
107
Causes of ptosis
Bilateral - myotonic dystrophy, MG, congenital
Unilateral - third nerve palsy, horners syndrome
108
How does syringomelia present?
Weakness and wasting of small muscles of the hand
Loss of reflexes in upper limbs
Loss of pain and temperature with preservation of position and vibration sense
Charcot joints
Pyramidal weakness in lower limbs with upgoing plantars
Kyphscoliosis
Hornets syndrome
109
What causes syringomelia?
Progressively expanding fluid filled cavity within the cervical cord - causes LMN weakness at level of syrinx with loss of pain and temp sensation and UMN weakness below the level of the syrinx
110
What is a Charcot joint?
Painless deformity and destruction of a joint with new bone formation following repeated minor trauma secondary to loss of pain sensation
111
Causes of Charcot joint
Tabes dorsalis- hip and knee
Diabetes - foot and ankle
Syringomelia - elbow and shoulder
112
How does facial nerve palsy present
Unilateral facial droop
Absent nasolabial fold and forehead creases
Bell’s phenomenon: eyeballs roll upwards in attempted eye closure
113
Locating level of the lesion causes facial nerve palsy
Pons (MS/stroke) + 6th nerve palsy and long tract signs
Cerebellar- pontine angle (acoustic neuroma) + 5th,6th,8th palsy + cerebellar signs
Auditory/facial canal (cholesteatoma or abscess) + 8th nerve palsy
Neck and face - scars or parotid mass
114
Management of Bells Palsy
Steroids
Eye protection
Aciclovir if severe
115
Clinical signs of tuberous sclerosis
Adenoma sebaceum in butterfly distribution
Periungual fibroma
Shagreen patch
Ash leaf macules
Cystic lung disease
Renal enlargement
Transplanted kidney/evidence of dialysis
Retinal phakomas
Seizures
Signs of anti-epileptic therapy
116
Genetics of tuberous sclerosis
Autosomal dominant
Type 1- chromosome 9
Type 2 - chromosome 16
117
Renal manifestations of tuberous sclerosis
Renal angiomyolipomas, renal cysts and RCC
118
Investigating tuberous sclerosis
Skull films show railroad tract calcification
CT/MRI head showing tuberous masses in the cerebral cortex
Echo and US abdo show hamartomas and renal cysts
119
Clinical signs of neurofibromatosis
Cutaneous neurofibromas
Cafe au lait patches
Axillary freckles
Lisch nodules
Hypertension
Honeycomb lung/fibrosis
Palpable enlarged nerves
Poor visual acuity due to optic glioma/compression
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Clinical signs of Horner’s pupil
Ptosis
Enophthalmos (sunken eye)
Anhydrosis
Miosis (small pupil)
Look at the ipsilateral side of the neck for scars and tumours (Pancoast’s)
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Clinical signs of a Holmes-Adie pupil
Moderately dilated pupil that had a poor response to light and a sluggish response to accommodation
Absent or diminished ankle and knee jerks
This is a benign condition more common in females. Provide reassurance.
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Clinical signs of an Argyll Robinson pupil
Small irregular pupil, accommodates but doesn’t react to light. Atrophied and depigmented iris.
Look for sensory ataxia (tabes dorsalis)
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Causes of Argyll Robertson pupil
Syphilis
- tabes dorsalis
- demyelination predominantly in dorsal root ganglia
- will also have sensory ataxia and pain
- test using TPHA or FTA
- treat with penicillin
Diabetes
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Clinical signs of a 3rd nerve palsy
Ptosis, usually complete
Dilated pupil
Eye points down and out
On looking nasally the eye will intort suggesting normal trochlear nerve function
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Causes of a 3rd nerve palsy
Medical:
- mononeuritis multiplex
- midbrain infarct (Weber’s)
- MS
- Migraine
Surgical:
- Posterior communicated artery aneurysm
- cavernous sinus pathology
- cerebral uncus herniation
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How does optic atrophy present?
Relative afferent pupillary defect: dilation of the pupil on moving the slight source from the normal eye (consensual reflex) to the abnormal eye (direct reflex)- also known as Marcus Gunn pupil
Disc pallor on fundoscopy
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Causes of optic atrophy
MS
Friedreichs ataxia
Paget’s disease
