Neurology Master Flashcards
Femoral nerve:
- Nerve Roots
- Motor function
- Reflex
- Sensory
- Clinical causes of neuropathy
- Lumbar plexus L2-4
- Knee extension, hip flexion
- Knee jerk
- Anterior thigh and medial lower leg (saphenous nerve)
- Diabetes, femoral nerve block, pelvic fractures, THR, childbirth, psoas abscess, posterior abdoinal neoplasms
Obturator nerve:
- Nerve Roots
- Motor function
- Reflex
- Sensory
- Clinical causes of neuropathy
- L 2-4
- Thigh adductors
- N/A
- Skin of medial thigh
- Damage during surgery involving the pelvis/abdomen; obturator nerve block
Sciatic nerve:
- Nerve Roots
- Motor function
- Sensory
- Reflexes
- Clinical causes of neuropathy
- L4 - S3
- Thigh extensors then divides into tibial and common fibular nerve
- No direct sensory functions but indirectly innervates skin of lateral leg, heel and both dorsal and plantar aspects of the foot
- Ankle
- Piriformis syndrome
Tibial Nerve:
- Nerve Roots
- Motor function
- Sensory
- Clinical causes of neuropathy
- L4 - S3
- Posterior compartment of the leg and majority of intrinsic foot muscles
- Unlocking knee
- Flexes toes and plantar flexes ankle
- Foot inversion
- Some knee flexion
- Posterolateral side of leg, lateral side of the foot and sole of the foot
- Tarsal tunnel syndrome due to OA, RA< trauma
Common peroneal nerve:
- Nerve Roots
- Motor function
- Sensory
- Clinical causes of neuropathy
- L4 - S2
- Lateral and anterior compartments of the leg
- Foot eversion
- Dorsiflexsion of the foot
- Toe extension
- Upper lateral and lower posterolateral leg. Also supplies (via branches) cutaneous innervation to the skin of the anterolateral leg, and the dorsum of the foot
- Fracture of the fibula/tight cast
Multiple sclerosis is a disease primarily affecting which cells?
Oligodendrocytes
MS involves the attack of the following proteins..
Myelin basic protein and myelin oligodendrocyte glycoprotein (MBP and MOG)
Internuclear opthalmoplegia to right clinical finding
If R) sided INO - R) eye cannot adduct and L) eye horizontal nystagmus to the right
transverse myelitis on MRI - signal change in which sequence?
T2 hyperintense signal change
what criteria (dissemination in space or time) can oligoclonal bands substitute for the diagnosis of MS?
dissemination in time
Typical MS lesions (5)
- Juxtacorticaol lesions
- Dawson’s fingers
- Pontine lesions
- Spinal cord lesions
- GAD-enhancing lesions
Natalizumab (Tysabri)
- Route
- MOA
- AE
- IV monthly
- Monoclonal antibody that binds to alpha4 subunit of 2 integrin adhesion molecules. Tries to prevent the extravasation of inflammatory cells through the BBB into the CNS
- PML
Alemtuzumab
- Route
- MOA
- AE
- IV daily for 5 days then in another 12 months
- Recombinant humanised monoclonal antibody that binds to CD52 antigen (present on the surface of most B and T lymphocytes)
- Infusion reactions, autoimmune disorders, infections, lymphopenia
Dimethyl fumarate
- Route
- MOA
- AE
- Oral
- Unknown
- Nausea, vomiting, diarrhoea, lymphopenia
Fingolimod
- Route
- MOA
- AE
- PO daily
- Sphingosine 1‑phosphate receptor modulator; reduces lymphocyte infiltration of the CNS by preventing lymphocytes leaving lymph nodes, thus reducing inflammation and demyelination
- Bradycardia, first degree AV block, infection, leukopenia, macula oedema, PRES, PML
Interferon beta
- Route
- MOA
- AE
- Subcut
- Antagonism of gamma interferon, reduction of cytokine release and augmentation of suppressor T cell function
- Rash, myalgia, headache, abdominal pain
Ocrelizumab
- Route
- MOA
- AE
- IV
- Recombinant humanised monoclonal antibody that selectively depletes CD20-positive B lymphocytes
- Infusion reactions (34% in clinical trials), infection, neutropenia
Approved for PBS for primary progressive MS
Teriflunomide
- Route
- MOA
- AE
- PO
- Inhibits pyrimidine synthesis in leucocytes by inhibiting activity of dihydro-orotate dehydrogenase (DHODH)
- Teratogenic and immunosuppressive
Cladrabine
- Route
- MOA
- AE
- PO
- Synthetic deoxyadenosine analogue - reduction in peripheral T and B lymphocytes and resting cells as well
- Significant lymphopenia
PML imaging findings
One or more hyperintense lesions on T2-weighted or FLAIR sequences with a sharp border at the grey-white junction and less distinct borders toward the white matter
- Large >3cm lesions
- Contrast enhancement in 41% with early PML
- U-fibers (subcortical)
MS disease activity in pregnancy
Encourage conception when stable
Relapse declines during pregnancy but increases post partum
Control disease activity prior conception
What MS meds are not recommended during pregnancy
fingolimod and tysabri (natalizumab) - both have high risk of rebound
Teriflunomide (VERY TERATOGENIC) - need chelation and drug elimination prior contraception
alemtuzumab (high risk of autoimmune thyroiditis)
Anti-MOG disease clinical features
- Clinical features
- Initial episode – optic neuritis, ADEM, transverse myelitis
- Relapse – optic neuritis
- Course
- Monophasic or relapsing
- OCB in <15% • MOG Ab in serum
anti-MOG MRI findings
- ADEM like fluffy white matter, deep grey matter, brainstem
- Optic nerve enhancement
- Multiple spinal lesions; can be long or short segment
What DMARD is approved for primary progressive MS?
Ocrelizumab
Intracranial haemorrhage with blood around the Sylvia fissure - aneurysm location?
MCA aneurysm
Intracranial haemorrhage with blood along floor of the anterior cranial fossa - aneurysm location?
ACA aneurysm
Risk of stroke in the first week after TIA (untreated)
10%
When are PFO closure in strokes indicated?
Otherwise cryptogenic stroke age <60
When to do left atrial appendage closure for AF
contraindication to anticoagulation
Blood pressure management in acute ischaemic stroke
- Gently lower <185/105 if thrombolysis
- Otherwise only treat if >220/120
Longer term: aim SBP <140 mmHg
Management of symptomatic cartoid stenosis:
- 70-99%
- 50-69%
- Occlusion/trickle
- Carotid endarterectomy between 2 days and 2 weeks if not alr severely disabled
- Carotid endarterectomy if low surgical morbidity and good life expectancy
- Low risk of recurrent stroke - generally not suitable for surgery
Rate of orolingual angiooedema post tPA
2% (5% if taking ACEI)
IV thrombolysis in parallel with endovascular thrombesctomy?
Yes if eligible
What criteria for extended timing for endovascular thrombectomy (6-24hr)
<70ml core (and other generic thrombectomy criteria)
Subarachnoid haemorrhage centred anteriorly to the pons and midbrain - diagnosis and investigations
Likely perimesencephalic subarachnoid hemorrhage
CTA only, does not need DSA if normal CTA as 95% of cases are non-aneurysmal
Reversible vasoconstriction syndrome clinical features
- Month-6 weeks of episodic thunderclap headaches
- Most have good prognosis and a very small proportion can have cerebral ischaemia and have neurological sequalae
Treatment of reversible vasoconstriction syndrome
Calcium channel blockers but mainly exert opinion
Mechanism of trigeminal neuralgia
Microvascular compression
Clinical features of trigeminal neuralgia
Electric sudden pain, recurrent, often triggered by sensory stimulus in other affected area
Ephaptic transmission of sensory/compression input
Can rarely be seen in patient in MS
Treatment for trigeminal neuralgia
Carbamazepine
Characteristic of migraine aura
- Starts off as central visual disturbance, then spreads and expands
- The edge has a shimmering quality and zim zag (fortification spectra)
- Persists for ~20min
- Key features is that it migrates
- Generally preceds headaches
Pathogenesis of migraine aura
Neuronal dysfunction - spreading depression of Leao
New monoclonal antibody available for migraines
CGRP inhibitor (Erenumab)
MOA for tripans
- 5HT1B and 5HT1D agonist
- Those things are thought to inhibit the release of CGRP
What CN is affected in IIH
CN VI due to its long and vertical course and predisposition to be compressed by the increased pressure
(lateral visual palsy)
Ventricle size in IIH
Small unlike NPH
Pathophysiology of the trigeminal autonomic cephalagias
Incompletely understood..
Abnormality in the hypothalamus leading to hypothalamic activation with secondary activation of the trigeminal autonomic reflex, probably via a trigeminal-hypothalamic pathway
Which trigeminal autonomic cephalagias have a strong indomethacin effect?
Paroxysmal hemicrania and hemicrania continua

Acute management of cluster headache
High flow oxygen at least 8L/min
Triptan - sumitriptan by subcut injection
Long-term management of cluster headaches
- Verapamil - start at 160mg, uptitrate up to 720mg+ (need ECGs)
- Can use prednisolone (75mg) as transitional therapy
- GON block
Where does surface electrode for median nerve go?
APB (abductor pollicis brevis)
Are amplitudes of sensory conduction responses bigger or motor responses?
Motor because you are getting the response from the whole muscle rather than over a nerve directly
What is the pathology of nerve compression and what is the finding on NCS?
Focal demyelination localised slowing
NCS finding of guillian barre/conduction block
segmental nerve demyelination - decreased amplitudes across different segments
What does very very slow conduction velocities suggest?
Inherited demyelinations - e.g. charcot marie tooth
Critical illness myopathy - why does it produce low amplitude on NCS
low amplitude due to decrease in muscle mass
Normal EMG findings
- No response at rest
- Gradual recruitment of individual muscle fibres
- Interference pattern when multiple muscle units are recruited
Findings of deinnervation and reinnervation of EMG
- Deinnervation = fibrillation
- Reinnervation - larger amplitude
fibrillation happens first
EMG findings in myopathy
- No fibrillation (generally); no spontaneous activity
- Activity is low amplitude and brief
- Often polyphasic because the the muscle fibre is damaged and there is re-innervation between the muscle fibres
The exception to fibrillation is conditions with a lot of degeneration (ICU myopathy, duchenne in active phase, active myositis, necrotising myositis)
EMG findings in myasthenia gravis
Fast repetitive stimulation to see decremental response (Lambert eaton is incremental response)
What is the pathology that causes fasciculations
single motor unit firing by itself happens in chronic deinnervation
What is myokymia and what is the pathology?
involuntary, spontaneous, localized quivering of a few muscles, or bundles within a muscle, but which are insufficient to move a joint
Commonly eyelid twitching
Post radiotherapy common in limbs due to spontaneous firing of individual fibres
Findings of demyelination on NCS
Increased latency and dispersion - due to different degrees of demyelination in different nerves
Causes of a painful neuropathy
Generally small fibre
B6 toxicity proximal
small fibre amyloid paraneoplastic
HIV assoc cryoglobuliaemia
Where does demyelination most commonly occur in GBS (which part of a nerve)
Proximally so f waves are important in GBS
anti GQ1 positive GBS variant clinical syndrome
Miller Fischer variant - ataxia bulbar ophthalmoplegia
dive bomber EMG
myotonia
What is spared in MND
Diplopia and micturition as the theory is that only monosynaptic pathways are involved
What is the split hand syndrome and what condition is it found in?
Found in ALS
The thenar muscles 1st dorsal interosseous are more affected than the hypothenar. This is despite those muscles being innervated by the same spinal segments and ulnar nerve. The mechanism is thought to do with the portion of corticol representation of the first four digits.
C5 radiculopathy vs axillary neuropathy
C5 has more functions:
Motor
- Elbow flexion: biceps (C5, C6), brachioradialis (with the forearm in mid-pronation) (C5, C6)
- Forearm supination: biceps (C5, C6)
Sensory
- Lateral shoulder and upper arm, extending to lateral aspect of the elbow
Reflexes
- Biceps
- Brachioradialis
C7 radiculopathy vs radial neuropathy
C7 has:
- Forearm pronation (median nerve)
Radial neuropathy has:
- Elbow extension (C5, 6)
- Brachioradialis reflex
Sensory is dependent on the height of the radial neuropathy lesion.
Both do: elbow extension, wrist extension, write flexion, finger extension, thenar muscles; triceps reflex
C8 radiculopathy vs ulnar neuropathy
C8:
- LOAF muscles
- Lateral 2 lumbricals
- Opponens pollicis
- Abductor pollicis brevis
- Flexor pollicis brevis
- Tricpes jerk
Pathophysiology of neuralgic amytrophy
Inflammatory disorder of the brachial plexus
(Often amendable to steroids even though that would worsen the diabetes)
Clinical presentation of neuralgic amyopathy
- Severe pain shoulder girdle or lateral arm
- Patchy weakness in the upper middle brachial plexus
- Often involving winging of the scapula
- Denervation on EMG
L5 radiculopathy vs common peroneal neuropathy
L5:
- Hip abduction
- Foot inversion (but actually tibialis anterior does have a minor action) - but this is the exam answer!
What anti-epileptic to avoid in mitochondrial epilepsy?
Valproate - will worsen epilepsy
Are on EEG electrodes labelled?
right is even
left is odd
central is z
Normal EEG findings
- Posterior-dominant rhythm - 8.5 to 12 Hz alpha rhythm, maximal in the posterior part of the head
- Attenuation with eye opening (alpha rhythm becomes lower voltage with eye opening and augments with eye closing)
What sleep stage does sleep spindles and K-complexes appear?
Stage 2 sleep

What is the Juvenile Myoclonic Epilepsy finding on EEG?
4Hz spike and wave
When are triphasic waves seen on EEG?
hepatic encephalopathy
but also present in other forms of encephalopathy
What are PLEDs in EEG?
Period lateralised epileptiform discharges
High of seizures
Often seen in HSV
What are GPEDs in EEG?
Generalised periodic epileptiform discharges
Indicates a bad state of the brain e.g. severe hypoxic brain injury/other bad insults
What anti-epileptics are P450 enzyme inducers? (6)
Phenytoin
Phenobarbitone
Primidone
Carbamazepine
Oxcarbazepine
Topiramate
What anti-epileptic is a P450 inhibitor
Valproate
What is the definition of drug-resistant epilepsy?
Uncontrolled seizures after failing 2 drugs at appropriate doses
What is the effect of carbamazepine on bones?
Increases bone loss by increasing metabolism of vitamin D
Perampanel
- MOA
- Metabolism
- AE
- Non-competitive AMPA-glutamate receptor antagonist
- Metabolised by liver
- Weight gain, falls, headache, fatigue
Lacosamide
- MOA
- Metabolism
- AE
- Slow sodium channel blockers
- Renal excretion (requires supplementation after dialysis)
- Prolong PR, ataxia, vertigo, nausea
Good for focal status
Clobazam
- MOA
- Metabolism
- AE
- Benzodiazepine that is different structually, a better antiepileptic and less sedating
- N/A
- Sedation, constipation, SJS/TENS
Used for drug-resistant focal epilepsy, sleep or clustering epilepsy
Brivaracetam
- MOA
- Metabolism
- AE
- Binds to SV2A - inhibits release of neurotransmitters. Less AMPA activity compared with levetiracetam (hence less neuropsychiatric activity)
- Metabolism by the liver
- Similar to levetiracetam but less neuropsychiatric
What part of cannabis is used for the treatment of epilepsy?
Cannabidoil (CBD)
THC part exacerbates seizures
Carbamazepine:
- Indications
- Adverse effects
- MOA
- Good for focal seizures (PBS approved for first line therapy)
- Enzyme inducer, hypersensitivity in certain populations; drowsiness, dizziness, ataxia, decreased bone mineral density
- Voltage-ated sodium channel blocker
Phenytoin:
- MOA
- AE
- Voltage-gated sodium channel
- Visual changes, gingival hyperplasia, decreased bone mineral density, cerebellar atrophy
Valproate
- MOA
- AE
- Acts on sodium channels and has some calcium channel and some GABA synapse action
- Tremor, hepatotoxicity, weight gain, alopecia, PCOS, teratogenesis
Good for primary generalised epilepsies
Topiramate
- MOA
- AE
- Dirty drug, some effects on sodium channels, Ca2+, GABA, GABA synape, glutamate receptors and is a weak carbonic anhydrase inhibitor
- Cognitive impairement, angle closure glaucoma
risk of epilepsy to offsprings (generally)
5-8%
targeted therapy for epilepsy in tuberous sclerosis
mTOR inhibitor therapy - everolimus
HLA associated with carbamazepine in SJS
HLA-B*15:02
What AEDs are bad for pregnancy
Valproate > phenobarbitol > topiramate > clonazepam > carbamazepine
What AEDS need drug level monitoring inpregnancy?
- Lamotrigine
- Levetiracetam
Both have increasing clearance in pregnancy and usually require increase in levels
What medication levels can be reduced by co-medication with OCP?
Lamotrigine (OCP remainds effective)
WHat AEDs can reduce the efficacy of the OCP?
Carbamazepine, phenytoin, henobarcitol, oxcarbazepine, topiramate, felbamate, perampanel
Unilateral spatial neglect and dressing apraxia stroke lesion
Non-dominant parietal lobe (MCA)
Presentation of Brown-Sequard syndrome
Loss of ipsilateral motor/spastic hemoplegia
Loss of ipsilateral one sided fine touch and vibratory sensation loss
Opposite side pain and temperature (spinothalamic decussates straight away when entering the spinal cord)
Genetic defect in Fredreich’s ataxia
Increased GAA repeats leading to the silencing of the frataxin gene.
Autosomal recessive.
Most common cause of hereditary ataxia
Friedreich’s ataxia presentation
Limb and gait ataxia with cardiomyopathy
Clinical presentation of subacute degeneration of the cord
Deficiency in vitamin B12 (cobalamin) leads to degeneration of the dorsal and lateral white matter of the spinal cord, producing a slowly progressive weakness, sensory ataxia, and paresthesias, and ultimately spasticity, paraplegia, and incontinence.
What is the funciton of rubrospinal tract?
Skilled control of the distal musculature
Features that indicates a poorer prognosis in Bell’s palsy?
- Severe complete paralysis
- Older age
- Hyeracusis (sensitivity to particular sounds)
- Altered taste
- EMG evidence of axonal degeneration
Acalculia and finger agnosia lesion site
Dominant hemisphere parietal lobe
Homonymous quadrantanopias - superior and inferior lesion location
Superior homonymous quandrantopias - temporal lobe
Inferior homonymous quadrantopias - parietal lobe
(PITS)
Are EMGs or NCS more useful in motor neuron disease?
EMG because it is normally partial deinnervation with normal conduction
Mechanism of action of Riluzole?
Sodium channel blocker that inhibits glutamate release.
Used in ALS
What motor neuron disease has only upper motor neuron signs?
Primary lateral sclerosis
Vigabatrin
- MOA
- AE
- Inhibits the breakdown of GABA
- Drowsiness, neuropsychiatric symptoms, weight gain, visual changes
What aneurysm can cause a CN III palsy?
Posterior communicating artery aneurysm
What is the most common symptom of excess levodopa?
Nausea and vomiting
MOA and uses of entacapone
MOA: Inhibits catechol-O‑methyltransferase (COMT), mainly in peripheral tissues; increases the amount of levodopa available to the brain and prolongs the clinical response to levodopa
Used in conjunction with levodopa to reduces weaning off effects
What dopamine antagonist (for nausea and vomiting) is most suitable for Parkinsons patients?
Domperidone - does not cross the CNS
Pramipexole MOA
Dopamine agonist
What antibiotic would reduce the therapeutic effect of sodium valproate?
Carbapenems
Braak staging in Parkinson’s
The most common progression of abnormal proteins
Medulla -> midbrain -> cortex
Explains anosmia/REM sleep disturbance -> Parkinsonism -> Neuropsychiatric and cognitive
Biggest risk factor for dementia in Parkinson’s disease
Age
What is the best test to predictor cognitive disability in Parkinson’s disease
Intersecting pentagons - to detect visuospatial impairement
MAO-B inhibitors
- Examples
- Side effects
- Rasagiline, selegeline
- Insomnia, low chance of serotinin syndrome (e.g. with SSRIs)
Dopamine agonists
- Examples
- Side effects
- Pramipexole, rotigotine patches, apomorphine
- Impulse control disorder (20%), sleepiness, psychosis
Major risk factors for onset of motor fluctuations in Parkinson’s disease
Age and disease duration (not levadopa exposure)
1st line for depression in Parkinson’s
Dopamine agonist before SSRI/TCA
How many cervical vertebrae and how many cervical roots?
Do cervical roots emerge above or below the vertebrae?
7 vertebrae and 8 roots
Cervical roots emerge above
Does Lumbar/Thoracic nerve roots emerge above or below the vertebrae?
Below
What syndrome does a L4/5 disc usual cause?
L5 because the L4 root exits very laterally.
However, if the disc protrusion was very lateral it could cause a L4 syndrome
Where are the spinal tracts controlling the distal limbs movements and the axial proximal limb movements?
Distal: lateral corticospinal and rubrospinal tract (dorsal/lateral spinal cord)
Axial/proximal: vestibulospinal, ventral reticulospinal and tectopinal (ventral/lateral spinal cort)

Distribution of weakness with extinsic cord compression compared with instrinsic?
Extrinsic affects sacral > lumbar > thoracic
Intrinsic is the opposite

What is the most common cause of a syringomyelia?
Chiari malformation
Presentation of Syringomyelia
the central cord lesion involved generslly the cervial/thoracic part and targets the decussating fibres of spinothalamic tract or entire cervical spinal cord
hence, there is disassociatve sensory loss (of only the pain and temperature fibres without vibration/proprioception most commonly in a cape like distribution.
Subacute combined degeneration of the cord presentation
Normally dorsal columns affected but severe cases can involve the corticospinal tract
Cuased by B12, copper, vit E def; NO intoxication
Most common cancer primary presenting with spinal metastases (not known to have cancer at the time of presentation)
Lung
Most common symptom of spinal metastases
Leg weakness - 82%
Axial pain - 72%
Most common sign of spinal metastases
Spinal tenderness (74%)
Sensory level (72%)
UMN or LMN or both:
- Amyotrophic lateral sclerosis
- Primary lateral sclerosis
- Progressive muscular atrophy
- Both
- UMN
- LMN
Best and worst types for prognosis of motor neuro disease
Best - primary lateral sclerosis
Worst - bulbar onset ALS
Is axonopathy or demyelination more common?
Axonopathy (75%)
Axonopathy vs demyelination
- Sensory vs motor
- Distal vs proximal
Axonopathy is sensory > motor; distal > proximal
Demyelination is motor > sensory; proximal > distal
Treatment of CIDP
- Pred
- IVIG
- PLEX
- +/- azathioprine, cyclosporin, mycophenolate, ritux, cyclophosphamide
How does multifocal motor neuropathy present?
Young adults with slowly progressive asymmetric distal weakness, wasting, fasciculations
Not UMN signs
What antibody is associated with multifocal motor neuropathy
Anti-GM1 Ab in 60-80%
What chemotherapy causes cold-induced parasthesias
oxalipatin induced neurotoxocity
What chemotherapy agent can cause painful sensory axonal neuropathy
Bortezomib (proteasome inhibition)
What are oligoclonal bands?
Evidence of CNS Ig synthesis
Present in half of MS cases at diagnosis
B-cell “oligo-clones”
PML treatment options
- Stop immunosuppressant
- PLEX (but risk of IRIS and cerebral oedema)
- Serotonin receptor blockers (e.g. mirtazepine)
What chromosome is the amyloid precursor protein gene on?
Chromosome 21
What are autosomal dominant genes for Alzhiemer’s dementia?
PSEN1, PSEN2, APP
What is effective for prevention of Alzhiemer’s Disease?
Home based exercise +/- mediterranean diet
Hypertension
?Souvenaid (presented at conference)
Negative trials for oestrogens, statins, NSAIDs, gingko biloba, Vit E, omega-3 (fish oil)
MOA of memantine
Non-competitive NMDA antagonist
What pathology is the semantic variant of primary progressive aphasia associated with?
TDP-43+ inclusion
What pathology is the non-fluent variant of primary progressive aphasia associated with?
Tau, amyloid deposits
What is seen on the MRIs of semantic variants of frontal temporal dementia?
Left temporal lobe atrophy
Findings on SPECT/PET for Lewy Body Dementia
Low dopamine transporter uptake in basal ganglia
What is the clinical features of Gertsmann syndrome and what part of the brain is affected?
Angular gyrus in the posterior parietal lobe
Loss of ability to:
- Express thoughts in writing (agraphia, dysgraphia)
- Perform simple arithmetic problems (acalculia)
- Recognize or indicate one’s own or another’s fingers (finger agnosia)
- Distinguish between the right and left sides of one’s body
What myopathies give a “distal arm/proximal leg weakness”
Inclusion body myositis, myotonic dystrophy
What is the inheritance and the genetic defect in myotonic dystrophy 1?
Autosomal dominant with anticipation
Triplet repeat disorder in DMPK gene
Myotonic dystrophy type 1 genetics
Myotonia
Weakness distal >proximal
Frontal balding
Cataracts
Intellectual impairement
Respiratory/swallowing difficulties
Cardiac conduction defects
What is the difference in presentation between lipid storage myopathies and glycogen storage myopathies?
Lipid storage myopathies are precipitated by prolonged moderate exercise
Glycogen storage myopathies are precipitated by brief high intensity exercise
MOA of pyridostigmine
Inhibits cholinesterases
What antibody is associated with inclusion body myositis?
Anti-NT5c1A
What antibody is associated with statin-associated autoimmuno myopathy?
Anti-HMGCR
What antibody is associated with high cancer risk in dermatomyositis?
Anti-p155
New drug for spinal muscular atrophy and MOA
Nusinersen
MOA:
- Antisense oligonucleotide binds to mRNA in intro 7 and reduces deletion of exon 7 and increases n ormal SMN protein
Note also that gene therapy has shown great benefit in phase II trials