Neurology Flashcards
Clinical Features of Myotonic Dystrophy
Myotonia (and percussion myotonia) Frontalis/Temporalis wasting Bilateral ptosis Distal myopathy Reduced reflexes Dysarthria/nasal speech
Systems involved in Myotonic dystrophy
Ocular: Cataracts
GI: Dysmotility (dysphagia, delayed gastric emptying)
Endocrine: Diabetes, Gynaecomastia, Testicular atrophy
Cardiovascular: Cardiomyopathy, Conduction defects
Respiratory: Sleep apnoea, recurrent LRTIs/aspirations
Other: slow wean from general anaesthetic
Investigations in myotonic dystrophy
EMG: repetetive action potentials after a single stimulus
Annual ECG
Diabetes screening (HbA1c, blood sugars)
Slit lamp (cataracts)
Lung function testing
Management of Myotonic dystrophy
Non-medical:
- MDT approach: physiotherapy, SALT, OT
- Genetic counselling and prenatal diagnosis
- Anaesthetic risk counselling
Medical
- Phenytoin for myotonia
- Diabetes Screening
- Surveillance for:
- -Cataracts
- -Respiratory failure
- -Cardiomyopathy/conduction defects
Genetics of myotonic dystrophy
Mutation in DMPK gene (chromosome 9) - affects ion channels
Autosomal dominant
Trinucleotide repeat pattern (CTG)
Anticipation
Causes of myopathy
Congenital:
- Muscular Dystrophies
- –Axial: Duchenne; Becker; Limb Girdle
- –Craniofascial: Fascioscapulohumeral; Oculopharyngeal
- –Distal myopathies
- Myotonic dystrophy
- Congenital myopathies (nemaline, central core)
- Muscle ion channel disorders
- Metabolic myopathies (glycogen, fatty acid disorders)
- Mitochondrial cytopathies
Acquired
- Inflammatory
- –Polymyositis
- –Dermatomyositis
- –assoc with CTD
- Inclusion body myositis
- Drug induced (statins most common)
- Metabolic
- Endocrine
Drug Induced Myopathy
Statins Fibrates Antimicrobials: rifampicin, sulfonamides, zidovudine ACEi Cochicine Penicillamine Corticosteroids
Inheritance of Myopathies
X-linked
- Duchenne
- Becker
- Emery Dreifuss
AD
- Myotonic dystrophy
- Facioscapulohumeral dystrophy
- Limb-girdle
- Oculopharyngeal
- Periodic paralyses
AR
- Limb girdle
- Metabolic myopathies
- Mitochondrial
Patterns of weakness in muscle disorders
Distal>proximal
- Inclusion body (forearm flexors, quads)
- FSHD
- Myotonic dystrophy
Proximal>distal
- Becker/DMD
- Limb girdle
- Inflammatory/endocrine
- Drug induced
Face with external ocular muscles involved
- Graves myopathy
- Mitochondrial disorder (ptosis, deafness, retinitis pigmentosa)
- MG
Calf pseudohypetrophy
-Becker & Duchenne
Myopathy investigations
Bloods
- CK
- FBC, U&E, LFT, ESR/CRP, bone profile, BM
- TFT, ANA, ANCA, RF
Imaging
- CXR
- Echocardiogram
- Malignancy screening - CT TAP +- PET
Functional
- ECG
- EMG
Features of Dermatomyositis
Acute/subacute symmetrical proximal weakness Dermatological: -Heliotrope rash - Violaceous eyelids -Rash on V of chest/upper back -Gottron's papules -Nailbed capillary
Respiratory
-Lung fibrosis
Cardiac
-Myopericaridtis
Joints/soft tissues
- Arthropathy (large, symmetrical)
- Raynaud’s
Kidneys
- Nephrotic syndrome
- MSGN
What are the types of motor neurone disease?
- Amyotrophic Lateral Sclerosis
- -UMN and LMN - Primary lateral sclerosis
- -Predominantly UMN
- -No wasting - Progressive muscular atrophy
- -Predominantly LMN - Progressive bulbar palsy
- -Bulbar onset
How would you manage a patient with MND?
- MDT approach:
- Neurologist
- MND nurse specialist
- SALT
- Physio
- OT
- Dietician/Nutrition team
- Respiratory (NIV)
- Palliative input - Symptom management
- Spasms (splints, baclofen)
- Respiratory failure (NIV)
- Drooling (anticholinergics)
- Pain (analgesia)
- Poor swallow (enteral feeding, SALT) - Medical
- Riluzole
How would you investigate for MND?
- Predominantly a clinical diagnosis
- El escorial criteria
- 4 body sections
- Definite diagnosis is UMN & LMN in 3 sections - EMG
- MRI brain/spinal cord
- r/o other causes - Bloods
- TSH, HIV, lyme serology
- CK can be raised
Examination findings in MND
- UMN and LMN signs
- Normal sensory/co-ordination signs
- Wasting
- Fasciculations
- Reduced power with variable tone
What is the clinical course of MS?
- Relapsing Remitting
- Becomes secondary progressive - Primary progressive
How do you diagnose MS?
McDonald Criteria
1. ≥2 attacks and ≥2 objective lesions
2. ≥2 attacks and 1 objective lesion With dissemination in space: a) oligoclonal bands b) ≥2 MRI lesions c) Further attack involving different site
- 1 attack and ≥2 objective clinical lesion
With dissemination in time:
a) MRI
b) Second attack - 1 attack and 1 objective lesion
a) DIS shown by MRI/positive CSF
b) DIT shown by MRI, second attack - Insidious neurological progression suggestive of primary progressive MS
a) CSF positive
AND
b) DIS shows by MRI evidence of 9 brain lesions, 2 spinal cord lesions, or mixture of brain/spinal OR positive visual evoked potential with 4-8 MRI lesions
c) DIT shown by MRI or continued progression over a year
Risk factors for MS
- Female x2 risk
- EBV
- Smoking
- Latitude
- Vitamin D deficiency
What is a clinically isolated syndrome, and how do you manage it?
- The initial episode of demyelination
- Investigations
- Bloods (ANA, ANCA, ENA, RF, complement, ESR, aquaporin 4, antiphospholipid)
- MRI - If positive:
- –LP
- –Visual evoked potential - Consider steroids
- Education
- 15% get MS if MRI negative
- 80% get MS if MRI positive
How do you investigate for MS?
- MRI
- Gadolinium shows lesions - LP
- oligoclonal bands - Visual evoked potentials
- -unilateral delay - Bloods
- ANA, ANCA, ENA, dsDNA
- ESR, B12, complement
- NMO-IgG (devic’s disease)
What are the treatment options in MS?
MDT approach
Relapses: 1g methylpred for 3 days
1st line DMARDS:
- IFN Beta analogues
- -avonex
- -betaferon
- -rebif
- Glatrimir acetate
- Nataluzimab
- Fingolimod
Aggressive disease
- Cyclophosphamide
- Rituzimab/IVIG/PEX
What are the cardinal features of parkinsonism?
- Tremor
- Rigidity
- Bradykinesia
- Postural instability
What are the causes of parkinsonism?
Congenital
- -Familial forms (<5%)
- -Wilson disease
Acquired:
–Idiopathic PD
Secondary parkinsonism
- Drug induced
- -Antidopaminergics (metoclopramdie, neuroleptcis, valproate) - Neurodegenerative disorders
- -Lewy Body dementia
- -Alzheimer’s
- -Normal pressure hydrocephalus - Vascular parkinsonsim
- Head trauma (pugilist)
- Infection (encephalitis, prion disease, HIV)
- Paraneoplastic
- MPTP, Carbon monoxide
What is the pathophysiology of parkinson disease?
Degeneration of dopamine neurones in substantia
–lewy bodies
–alpha synuclein protein aggregates
Reduced dopaminergic transmission –> projects to basal ganglia –> initiates movement
Other neurotransmitters (ACh, 5-HT, NA) - non movement manifestiations of PD
What are the clinical features of bradykinesia in PD?
Head
- Mask like facies
- Reduced blinking
Arms/trunk
- Reduced arm swing
- Micrographia
- Reduced gesturing
- Poor rhythmic movements (cutting food, fingers to thumb, foot tap)
Legs
- Festinating gait
- Turn en bloc
What are the clinical features of rigidity in PD?
Cogwheel rigidity
Lead pipe rigidty
Increases if distracting monouevre in other limb
What are the clinical features of tremor in PD?
Pill rolling tremor (85%)
- 3-5Hx
- Initially unilateral - can be trunk, legs, lips
- Not head
- At rest and with movement
- worse with distraction (e.g. couting from 100)
What are the clinical features of postural instability in PD?
Posture: fixed flexion of neck/trunk
Balance loss: loss of righting reflex
Gait: festinating
What are the alternative features of PD? (I.E not bradykinesia, rigidity and tremor)
- Autonomic
- -Postural hypotension
- -Constipation
- -urinary urgency/frequncy
- -Sialorhoea (drooling) - Neuropsychiatric
- -Punding (mechnical objects, repetitive behaviours)
- -Depression
- -Impulse control (gambling, sexual, shopping,escalating use of L-dopa)
- -Dementia - Sleep disturbance
- -Unable to turn in bed
- -Resless legs
- -REM sleep disturbance
What are the Parkinson Plus syndromes?
- Supranuclear palsy (SNP)
- -Loss of superior gaze & voluntary downward gaze
- -Early falls/postural instability, pseudobulbar dysarthria - Multiple system atrophy (MSA or Shy-Drager syndrome)
- -Parkinsonism
- -Cerebellar features
- -Corticospinal tract signs (++reflexes)
- -Autonomic features ++ (bladder, postural BP) - Corticobasal degeneration (CBD)
- -Clumsy limb - often rigid arm
- -Alien limb syndrome
- -Cognitive impairment early
- -Dystonia, dysphagia, dysarthria
How do you diagnose parkinson disease?
- Identify parkinsonism
- Apply exclusion criteria
- Elicit postive supporting criteria
What are the exclusion criteria for idiopathic PD in parkinsonian patients?
- Repeat strokes
- Repeat head injury
- Drugs known to cause parkinsonism
- Encephalitis
- > 1 Family members affected
- Sustained remission
- No L-dopa response
- Unilateral after 3y
- exposure to neurotoxin
10 Hydrocephalus
What are supporting features for Idiopathic PD?
> 2 of:
- Unilateral onset
- persistent asymmetry
- Rest tremor
- Progressive
- L-dopa response >5y and chorea after 10y
How do you investigate suspected PD?
Main aim is to avoid incorrect diagnosis
- CT head/MRI
- DaT scan
- -To distinguish PD vs Essential tremor
- -Functional imaging of dopaminergic system
- -SPECT - FP-Cit tracer - binds to DA transporters
- -Loss of “tail of the comma”
How do you manage Parkinson disease?
MDT approach
- -Physio
- -OT
- -Nutrition/dieteician team
- -Palliative
- -PD CNS
- -Neurologist
Education
Pharmacological therapy
What are the Pharmacological options in PD?
Drugs are symptomatic, not prognostic
Start when symptoms intefering with daily life
- Dopamine Agonists (enhance dopamine effects)
- -Ropinerole
- -Pramipexole
- -Rotigotine (patch) - L-dopa therapy (& decarboxylase inhibitor)
- -Madopar
- -Sinemet - COMT/MAOIs (prevent dopamin breakdown)
- -Entacapone
- -Seligiline/rasigiline
General Approach
- Young/fit/mild disease
- -Dopamine agonist/MAOb first
- -Then L-dopa & COMT - Older, severe, comorbid
- -L-dopa first
- -Then MAOi/COMT - Managing wearing off of Ldopa
- -MR preparations of l-dopa
- -COMT
- -DBS
- -Duodopa
- -Apromorphine
Name some Dopamine agonists and their main effects/side effects?
Examples
- Oral
- –Ropinerole
- –Pramipexole
- Transdermal
- –Rotigotine
- Subcutaneous
- –Apormorphine
Advantages - spare L-dopa
Disadvantages - dopaminergic side effects, hypersomnolence, impulse control
Not for dementia patients
Ergot derived (fibrosis - lung/retroperitoneal/cardiac)
- Cabergoline
- Pergolide
What are COMT inhibitors and MAO inhibitors?
Good agents to prevent wearing off effect in L-dopa use
COMT (catechol-O-methyltransferase inhibitors)
- Entacapone
- Increase half life of l-dopa, reduces dose requirement
- Disadvantages: dopamine side effects, orange urine, diarrhoea, dyskinesias
MAO type b inhibitors
- Rasagiline
- Seligiline
- Possible neuroprotective role
- side effects: dry mouth, headache, urinary, depresison
Features of Horner Syndrome
Ptosis
Constricted pupil
Anhydrosis
What are the causes of Horner Syndrome
A lesion anywhere along the sympathetic outflow tract from hypothalamus to the eye
1st order neuron (hypothalamus –> spinal cord)
- CVA (ischaemia/bleed)
- Tumour
- Inflammatory (vasculitis, granulomatous)
- Demyelination
- Syringomyelia
2nd Order Neuron (spinal cord to sympathetic chain)
-Tumour in neck/mediastinum (e.g. pancoast, thyroid/mediastinum)
3rd order neuron (chain –> carotid –> middle fossa)
- Trauma
- carotid dissection/aneurysm
Causes of extensor plantar reflex with absent ankle reflexes
- Subacute combined degeneration of the cord (B12 deficiency)
- Motor neuron disease
- Friedreich’s ataxia
- Tabes Dorsalis (syphilis)
(5) . Dual pathology e.g. spastic paraparesis & peripheral neuropathy
What is the cerebellopontine syndrome and what causes it?
- CN V, VII and VIII
- can get gaze palsies/cerebellar involvement if large lesion - Causes
- Middle fossa tumours (acoustic neuroma, cholesteatoma, meningioma etc)
- Vascular - vertebrobasilar artery enlargement
- Meningeal infection (TB, syphilis)
What are the examination findings in syringomyelia?
- Dissociated sensory loss
- Cape distribution spinothalamic (pain/temperature)
- Spared dorsal columns (vibration/position) - Bilateral weakness/wasting and loss of upper limb reflexes
- Other findings
- Lower limb weakness/UMN signs if severe
- Horner Syndrome
- Charcot Joint
- Kyphoscoliosis
Causes of syringomyelia
- Chiari malformation
- Intrinsic cord tumour
- Idiopathic
What are the examination findings in spinal cord lesions?
- Spastic paraparesis
- -Increased tone
- -Pyrmaidal weakness (Legs flexor >extensor)
- -Hyper-reflexia/upgoing plantars
- -Look for sensory level (above L1)
- Urinary catheter
- Spinal surgical scars
Causes of Spinal Cord lesions
- Compressive
- -Trauma
- -Spondylopathy/prolapse
- -Tumour
2. Non compressive Hereditary --HSP (hereditary spinal paraparesis) Non-hereditary --Vascular (bleed/ischaemia) --Inflammatory --Demyelinating --Infective --Metabolic
What are the driving restrictions for patients with loss of consciousness?
Unrestricted
-Clear vaso-vagal
4 weeks
-Syncope with no clear cause
6 Months:
- Seizure
- > 1 episode in 6 months
- Occured at wheel, significant injury, sitting/lying down
12 months
-Epilepsy diagnosed
