Nerdology 2 Flashcards
What is myasthenia gravis?
Autoimmune condition that causes muscle weakness that gets progressively worse with activity and improves with rest
Describe the epidemiology of myasthenia gravis
- More commonly affects females under 40 or males over 60- Association between thymoma and myasthenia gravis (10-20% of patients with myasthenia gravis have a thymoma, 20-40% of patients with a thymoma develop myasthenia gravis)
What are 2 causes of myasthenia gravis?
- Acetylcholine receptor (ACh-R) antibodies (85%)2. Muscle-specific kinase (MuSK) antibodies and low-density lipoprotein receptor-related protein 4 (LRP4) antibodies (15%)
Describe the pathophysiology of myasthenia gravis (due to ACh-R antibodies)?
- Antibodies bind to postsynaptic neuromuscular junction receptors- This blocks the receptor and prevents acetylcholine from being able to stimulate the receptor and trigger muscle contraction- During muscle activity, receptors become increasingly blocked up which causes less effective stimulation of muscle with increased activity- = more muscle weakness the more muscles are usedAntibodies also activate the complement system within the neuromuscular junction which leads to damage to cells at the postsynaptic membrane
Describe the pathophysiology of myasthenia gravis (due to MuSK and LRP4 antibodies)?
- Important proteins for creation and organisation of acetylcholine receptors- Destruction causes inadequate acetylcholine receptors
What is the characteristic feature of myasthenia gravis?
Weakness that gets worse with muscle use and improves with rest
What are 7 symptoms of myasthenia gravis?
- Diplopia2. Ptosis3. Weakness in facial movements4. Difficulty with swallowing5. Fatigue in jaw when chewing6. Slurred speech7. Progressive weakness with repetitive movements
What are 5 investigations for patients with myasthenia gravis?
- Check fatiguability in muscles2. Check for a thymectomy scar or CT/MRI of thymus gland3. Test forced vital capacity (FVC)4. Antibodies5. Edrophonium test
What are 3 ways of checking fatiguability in muscles?
- Repeated blinking will exacerbate ptosis2. Prolonged upward gazing with exacerbate diplopia3. Repeated abduction of one arm 20 times will result in unilateral weakness when comparing both sides
Which 3 antibodies should you test for in myasthenia gravis?
- Acetylcholine receptor antibodies (85%)2. Muscle-specific kinase antibodies (10%)3. Low-density lipoprotein receptor-related protein antibodies (<5%)
What is the edrophonium test?
- Patient given IV dose of edrophonium chloride- Acetylcholinesterase enzymes break down acetylcholine in neuromuscular junctions- Edrophonium blocks enzymes to stop the breakdown of acetylcholine- Level of acetylcholine increases- Briefly and temporarily relieves weakness in patients with myasthenia gravis
What is the treatment for myasthenia gravis?
- Reversible acetylcholinesterase inhibitors e.g. pyridostigmine, neostigmine- Immunosuppression e.g. prednisolone, azathioprine- Thymectomy- Monoclonal antibodies e.g. rituximab, eculizumab
What type of drugs are pyridostigmine and neostigmine and how do they work?
Reversible acetylcholinesterase inhibitors - increase the amount of acetylcholine in the neuromuscular junction and improve symptoms
What is rituximab and how does it work?
Monoclonal antibody - targets B cells and reduces the production of antibodies
What is eculizumab and how does it work?
Monoclonal antibody - targets complement protein C5 to reduce inflammation
What is the main complication of myasthenia gravis?
Myasthenia crisis
What does a myasthenia crisis cause?
- Acute worsening of symptoms (often triggered by another illness e.g. respiratory tract infection)- Can lead to respiratory failure
How is a myasthenia crisis treated?
- Non-invasive ventilation with BiPAP or full intubation and ventilation- Immunomodulatory therapies e.g. IV immunoglobulins and plasma exchange
What is Parkinson’s disease?
Progressive reduction of dopamine in the basal ganglia leading to disorders of movement
Describe the epidemiology of Parkinson’s disease
- Most common in older men - 2nd most common neurodegenerative disorder
What are 3 risk factors for Parkinson’s disease?
- Age2. Male3. Pesticide exposure
Describe the pathophysiology of Parkinson’s disease
- Basal ganglia are a group of structure responsible for coordinating habitual movements- Substantia nigra pars compacta is a part of the basal ganglia that produces dopamine which is essential for the correct functioning of the basal ganglia- Parkinson’s = gradual fall in the production of dopamine (impaired nigrostriatal pathway)
What is the classic triad for Parkinson’s disease?
- Resting unilateral tremor2. ‘Cogwheel’ rigidity3. Bradykinesia
How does a Parkinson’s tremor differ from a benign essential tremor?
- Asymmetrical- 4-6 Hz frequency- ‘Pill rolling’ tremor- Improves on voluntary movement- Worsened if patient is distracted- No change with alcohol
How does bradykinesia present in Parkinson’s patients?
- Handwriting gets smaller- Can only take small steps when walking- Difficulty initiating movement- Difficulty turning around when standing- Reduced facial movements/expressions (hypomimia)
What are 5 other clinical presentations of Parkinson’s disease?
- Depression2. Sleep disturbance and insomnia3. Loss of sense of smell (anosmia)4. Postural instability5. Cognitive impairment and memory problems
What is the treatment for Parkinson’s disease?
- Synthetic dopamine (levodopa)- COMT inhibitors (entacapone)- Dopamine agonists (bromocriptine, pergolide, cabergoline)- Monoamine oxidase-B inhibitors (selegiline, rasagiline)
What is synthetic dopamine often combined with when treating Parkinson’s disease?
Peripheral decarboxylase inhibitors e.g. carbidopa, benserazide (stop levodopa being broken down in the body before it can reach the brain)- Co-beneldopa- Co-careldopa
What do COMT inhibitors do and give an example?
- Inhibit catechol-o-methyltransferase (enzyme that metabolises catecholamine neurotransmitters in the body and brain)- Extends the effective duration of levodopa- E.g. Entacapone
What do dopamine agonists do and give 3 examples?
Mimic dopamine in the basal ganglia and stimulate dopamine receptors1. Bromocriptine2. Pergolide3. Cabergoline
What do monoamine oxidase-B inhibitors do and give 2 examples?
Inhibit monoamine oxidase-B (enzyme that breaks down dopamine)1. Selegiline2. Rasagiline
What are 3 side effects of excess levodopa (excess dopamine)?
Dyskinesias:1. Dystonia (abnormal posture or exaggerated movements)2. Chorea (abnormal involuntary jerking movements)3. Athetosis (involuntary twisting/writhing movements)
What is a side effect of dopamine agonists?
Pulmonary fibrosis
What is Huntington’s disease?
Autosomal dominant genetic condition that causes a progressive deterioration in the nervous system
Which gene in affected in Huntington’s disease?
- Autosomal dominant condition- Increase of CAG repeats on the Huntington (HTT) gene on chromosome 4
Describe the epidemiology of Huntington’s disease
Symptoms begin around age 30-50
Describe the pathophysiology of Huntington’s disease
- Caudate nucleus atrophies- Inhibitory neurones in the corpus striatum degenerate- Lack of GABA and excessive nigrostriatal pathway activation
Explain the genetics of Huntington’s disease
- Trinucleotide repeat disorder that involves a genetic mutation in the HTT gene on chromosome 4- Anticipation = successive generations have more repeats in the gene resulting in earlier age of onset and increased severity of disease
What are 4 clinical presentations of Huntington’s disease?
- Chorea (involuntary, abnormal movements)2. Eye movement disorders3. Dysarthria (speech difficulties)4. Dysphagia
What are 2 investigations for patients with Huntington’s disease?
- Genetic test for faulty gene (HTT gene)2. MRI/CT (loss of striatal volume)
What is the treatment for Huntington’s disease?
No treatmentSymptomatic relief:- Antipsychotics e.g. olanzapine- Benzodiazepines e.g. diazepam- Dopamine-depleting agents e.g. tetrabenazine- Antidepressants
What is the life expectancy of patients with Huntington’s disease?
15-20 years after the onset of symptoms
What are the 2 most common causes of death in patients with Huntington’s disease?
- Respiratory disease e.g. pneumonia2. Suicide
What is Guillain-Barre syndrome?
An acute paralytic polyneuropathy that affects the peripheral nervous system, usually triggered by infection
Describe the epidemiology of Guillain-Barre syndrome
Associated with campylobacter jejuni, cytomegalovirus and Epstein-Barr virus
Describe the pathophysiology of Guillain-Barre syndrome
Molecular mimicry:- B cells create antibodies against pathogen’s antigens- These antibodies also match proteins on nerve cells- Proteins on the myelin sheath of motor nerve cells or nerve axons are targeted (Schwann cells)
What are 8 clinical presentations of Guillain-Barre syndrome?
- Symmetrical ascending weakness (starts at feet and moves up)2. Reduced reflexes3. Peripheral loss of sensation4. Neuropathic pain 5. Facial nerve weakness6. Breathing problems7. Urinary retention8. Sweating
What are 2 investigations for patients with Guillain-Barre syndrome?
- Nerve conduction studies = reduced signal through nerves2. Lumbar puncture for CSF = raised protein with normal cell count and glucose
What is the treatment for Guillain-Barre syndrome?
- IV immunoglobulins- Immunosuppression- Plasma exchange (alternative to IV Ig)- Supportive care- VTE prophylaxis
What 2 complications of Guillain-Barre syndrome?
- Respiratory failure2. Locked in syndrome
What is multiple sclerosis (MS)?
Chronic inflammation of the CNS causing demyelination of myelinated neurones
Describe the epidemiology of MS
- More common in females- Typically presents in young adults under 50 years
What are 5 causes/associations of MS?
- Genetics (multiple genes)2. Epstein-Barr virus3. Low vitamin D4. Smoking5. Obesity
Describe the pathophysiology of MS
- Typically only affects the CNS (oligodendrocytes)- Inflammation and infiltration of immune cells causes damage to the myelin- Lesions vary in location over time
What are 5 clinical presentations of MS?
- Optic neuritis (demyelination of optic nerve)2. Eye movement abnormalities (due to lesions in abducens nerve)3. Focal weakness4. Focal sensory symptoms5. Ataxia (problems with coordinated movement)
Describe the presentation of optic neuritis in patients with MS
- Unilateral reduced vision- Central scotoma (enlarged blind spot)- Pain on eye movement- Impaired coloured vision- Relative afferent pupillary defect
Describe eye movement abnormalities in patients with MS
- Diplopia- Internuclear ophthalmoplegia (unilateral lesions - problems with muscles around the eye)- Conjugate lateral gaze disorder (eye don’t move together to look laterally)
Describe focal weakness in patients with MS
- Bells palsy (sudden weakness in muscles on one side of face)- Horners syndrome (ptosis, miosis, anhidrosis)- Limb paralysis- Incontinence
Describe focal sensory symptoms in patients with MS
- Trigeminal neuralgia- Numbness- Paraesthesia (pins and needles)- Lhermitte’s sign (electric shock sensation)
Describe ataxia in patients with MS
- Sensory ataxia (loss of proprioceptive sense)- Cerebellar ataxia (problems with cerebellum coordinating movement)
What are the 4 disease patterns of MS?
- Clinically isolated syndrome2. Relapsing-remitting3. Secondary progressive4. Primary progressive
What is clinically isolated syndrome in MS?
- First episode of demyelination and neurological signs and symptoms- Cannot diagnose with MS (as some patients may never have another episode or develop MS)
What is relapsing-remitting in MS?
- Episodes of disease and neurological symptoms followed by recovery- Can be further classified as active/not active, progressing/not progressing
What is secondary progressive in MS?
- Relapsing-remitting disease at first but now progressive worsening of symptoms with incomplete remissions- Can be further classified as active/not active, progressing/not progressing
What is primary progressive in MS?
Worsening of disease and neurological symptoms without initial relapse and remission
What does active/not active, progressing/not progressing mean in MS?
Active = new symptoms/lesions developingNot active = no new symptoms/lesions developingProgressing = overall worsening of disabilities/disease over timeNot progressing = no worsening of disabilities/disease over time
What are 4 investigations for patients with MS?
- Exclude other causes for symptoms2. Symptoms must be progressive over a period of 1 year = diagnosis3. MRI for lesions4. Lumbar puncture for CSF = oligoclonal bands
What is the diagnostic criteria for MS?
McDonald’s criteria:- Dissemination in time (damage that happened at more than 1 point in time)- Disseminated in space (damage in at least 2 regions of the brain/spinal cord)
What is the treatment for MS?
- Disease modifying drugs and biological therapy (interleukins, inflammatory cytokines, immune cells)- Steroids e.g. methylprednisolone (for relapse)- Steroids for optic neuritis- Symptomatic releief
What symptomatic relief is given for MS?
- Neuropathic pain relief e.g. amitriptyline, gabapentin- Antidepressants- Anticholinergic medication for urge incontinence e.g. tolterodine, oxybutynin- Medication for spasticity e.g. baclofen, gabapentin
What is a side effect of anticholinergic medication?
Can worsen cognitive impairment
What is meningitis?
Inflammation in the meninges
What are 4 causes of bacterial meningitis?
- Neonates = group B strep (s. agalactiae)2. Children <2 = strep pneumoniae3. Up to 50 years = neisseria meningitis (meningococcus), strep pneumoniae4. >50 = strep pneumoniae, listeria meningitis
What are 2 causes of viral meningitis?
- Enterovirus2. HSV (herpes simplex virus)
What are 2 causes of fungal meningitis?
- Cryptococcus2. Candida
What are 6 risk factors for meningitis?
- Student2. Travel3. Immunocompromised4. Pregnancy5. Extremes of ages6. Unvaccinated
What is characteristic symptom of meningococcal septicaemia?
Non-blanching rash - indicates the infection has caused disseminated intravascular coagulopathy (DIC) and subcutaneous haemorrhage
What are 7 clinical presentations of meningitis?
- Fever2. Neck stiffness3. Vomiting4. Headache5. Photophobia6. Altered consciousness7. Seizures
What are 5 non-specific clinical presentations of meningitis (often in neonates/babies)?
- Hypotonia2. Poor feeding3. Lethargy4. Hypothermia5. Bulging fontanelle
What are 5 investigations for patients with meningitis?
- Lumbar puncture for CSF2. Blood culture3. Bloods (meningococcal PCR)4. Kernig’s test5. Brudzinski’s test
What in the CSF do we look at when investigating meningitis?
- Bacterial culture- Viral PCR- Cell count- Protein- Glucose
Describe the differences in CSF with bacterial and viral meningitis
- Bacterial = cloudy, viral = clear- Bacterial = high protein, viral = mildly raised/normal- Bacterial = low glucose, viral = normal glucose- High WCC (bacterial = neutrophils, viral = lymphocytes)- Culture (bacterial = bacteria, viral = negative)
What is Kernig’s test?
- Patient lies on back, flexing one hip and knee to 90 degrees and then slowly straightening the knee whilst keeping the hip flexed at 90 degrees- Meningitis = spinal pain or resistance to movement
What is Brudzinski’s test?
- Patient lies on back- Lift their head and neck off the bed and flex their chin to their chest- Positive = patient involuntarily flexes hip and knees
What is the treatment for bacterial meningitis?
- Meningitis and non-blanching rash = IM/IV benzylpenicillin- Cefotaxime plus amoxicillin (under 3 months)- Ceftriaxone- Vancomycin- Steroids (dexamethasone)
What other treatment is given for meningitis?
Post exposure prophylaxis = ciprofloxacin
What is the treatment for viral meningitis?
Aciclovir
What are 7 complications of meningitis?
- Hearing loss2. Seizures and epilepsy3. Cognitive impairment and learning disability4. Memory loss5. Cerebral palsy6. Limb weakness7. Spasticity
What is encephalitis?
Inflammation of the brain
What is the most common cause of encephalitis?
Herpes simplex type 1 (HSV-1) from cold sores (95%)
What are 5 other causes of encephalitis?
- Herpes simplex type 2 (HSV-2) from genital herpes (neonates)2. Varicella zoster virus (VZV) associated with chickenpox3. Cytomegalovirus (CMV) associated with immunodeficiency4. Epstein-Barr virus (EBV) associated with infectious mononucleosis, enterovirus, adenovirus and influenza virus5. Viruses from vaccinations (polio, mumps, rubella, measles)
What are 2 risk factors for encephalitis?
- Extremes of ages2. Immunocompromised
What are 8 clinical presentations of encephalitis?
- Fever2. Headache3. Encephalopathy4. Altered consciousness5. Altered cognition6. Unusual behaviour7. Acute onset of focal neurological symptoms8. Acute onset of focal seizures
What are 4 investigations for patients with encephalitis?
- Lumbar puncture for CSF (viral PCR testing, CSF may show uraemia)2. CT/MRI (unilateral temporal encephalitis)3. Swabs4. HIV testing
What is the treatment for encephalitis?
- Aciclovir (for HSV and VZV)- Ganciclovir (for CMV)
What are 9 complications of encephalitis?
- Lasting fatigue and prolonged recovery2. Change in personality or mood3. Changes to memory and cognition4. Learning disability5. Chronic pain6. Movement disorders7. Sensory disturbance8. Seizures9. Hormonal imbalance
What is dementia?
Irreversible, progressive decline and impairment of more than one aspect of higher brain function (concentration, memory, language, personality, emotion) without impairment of consciousness
Describe the epidemiology of Alzheimer’s disease
- Most common type of dementia- Most common neurodegenerative disorder- Commonly affects patients over 65- More common in females
What are 5 risk factors for Alzheimer’s disease?
- Down’s syndrome2. ApoE E4 allele homozygosity3. Reduced cognitive activity4. Depression/loneliness5. Increasing age
Describe the pathophysiology of Alzheimer’s disease
- Extra-cellular deposition of beta-amyloid plaques- Tau-containing intracellular neurofibrillary tangles- Accumulation leads to damaged synapses and atrophy- Tends to progress steadily over time
What are 5 clinical presentations of Alzheimer’s disease?
- Memory - episodic and semantic2. Language - difficulty understanding or finding words3. Attention and concentration issues4. Psychiatric changes e.g. withdrawal, delusions5. Disorientation e.g. time and surroundings
What are 4 investigations for patients with Alzheimer’s disease?
- MMSE (mini mental state examination)2. Bloods - TFTs, B123. Memory clinical assessment4. MRI
What is the treatment for Alzheimer’s disease?
- No cure- Supportive therapy- Symptomatic management (acetylcholinesterase (AChE) inhibitors e.g. rivastigmine (FIRST LINE), donepazil)
Describe the epidemiology of frontotemporal dementia
- More common dementia in patients under 65- 5% of dementias
What is a risk factor for frontotemporal dementia?
Family history
Describe the pathophysiology of frontotemporal dementia
- Atrophy of frontal and temporal lobes- Loss of neurons but no plaque formation- Tau protein +ve or TDP-43 +VE inclusions- Onset tends to be insidious and progressive
What are the 3 main symptoms of frontotemporal dementia?
- Behavioural issues2. Progressive aphasia3. Semantic dementia
What are 3 behavioural issues that present in frontotemporal dementia?
- Loss of inhibition/empathy2. Compulsive behaviours3. Difficulty planning
What are 2 progressive aphasia presentations in frontotemporal dementia?
- Slow, difficulty speech2. Grammatical errors
What are 3 semantic dementia presentations in frontotemporal dementia?
- Loss of vocabulary2. Problems understanding3. Inability to recognise objects or familiar faces
What are 4 investigations for patients with frontotemporal dementia?
- Bloods - B12, TFTs, U&Es2. FBC and LFTs (for suspected encephalopathy)3. MMSE (mini mental state examination)4. MRI (frontal/temporal atrophy)
What is the treatment for frontotemporal dementia?
- No cure- Supportive therapy- SSRIs- Levdopa/carbidopa (if Parkinson’s symptoms present)- Stop exacerbating drugs
Describe the epidemiology of Lewy Body dementia
- Most commonly affects patients over 50- More common in males- Most commonly associated with Parkinson’s
Describe the pathophysiology of Lewy Body dementia
- Eosinophilic intracytoplasmic neuronal inclusion bodies (Lewy bodies) in the brainstem and neocortex- Substantia nigra depigmentation and amyloid deposits- Rapidly progressive
What are 7 clinical presentations of Lewy Body dementia?
- Loss of cognitive function2. Spatial awareness difficulties3. Visual hallucinations4. Problems multitasking5. Sleep disorders and restless leg syndrome6. Memory loss 7. Parkinson-like symptoms (tremor, rigidity, change in gait)
What are 5 investigations for patients with Lewy Body dementia?
- MMSE (mini mental state examination)2. Bloods - B12, TFTs, U&Es3. MRI4. MSU (mid stream specimen of urine - to check for urine infection)5. SPECT/PET scan (low dopamine transported uptake in basal ganglia)
How is Lewy Body dementia diagnosed?
Presence of dementia with 2 of:- Fluctuating attention and concentration- Recurrent well-formed visual hallucinations- Spontaneous Parkinsonism^ if only 1, diagnosis can be made with SPECT/PET scan
What is the treatment for Lewy Body dementia?
- Supportive therapy- Cholinesterase inhibitors e.g. rivastigmine (to help with cognitive decline)- Avoid use of neuroleptic drugs e.g. haloperidol (can produce severe sensitivity reactions)
What is the average prognosis of Lewy Body dementia?
Death most commonly in the first 7 years post-diagnosis
Describe the epidemiology of vascular dementia
- 2nd most common type of dementia- More common in males
What is the cause of vascular dementia?
Multiple small cerebrovascular infarcts
What are 7 risk factors for vascular dementia?
- Previous stroke/TIA2. Hypertension3. Smoking4. Type 1 diabetes mellitus5. Hyperlipidaemia6. Obesity7. Hypercholesterolaemia
Describe the pathophysiology of vascular dementia
- Most commonly affects white matter of both cerebral hemispheres, grey nuclei, thalamus, striatum- Progresses in a sudden stepwise fashion (period of stability, acute decline progression, period of stability)
What are 4 clinical presentations of vascular dementia?
- Cognitive impairment2. Mood disturbances and mood disorders3. Visual disturbances4. UMN signs
What are 5 mood disturbances and mood disorders in vascular dementia?
- Psychosis 2. Delusions3. Hallucinations4. Paranoia5. Depression
What are 3 UMN signs in vascular dementia?
- Muscle weakness2. Overactive reflexes3. Clonus (involuntary and rhythmic muscle contractions)
What are 3 investigations for patients with vascular dementia?
- MRI (infarcts)2. Patient history (e.g. for previous strokes)3. Cognitive impairment screen (orientation, attention, language, visuospatial functions, motor control)
What is the treatment for vascular dementia?
- Manage predisposing factors- Supportive therapy- Symptom control with antidepressants (SSRIs) or anti-psychotics
What are the primary headaches?
Migraine, tension, cluster
What is a migraine?
Recurrent, throbbing headache often preceded by an aura and associated with nausea, vomiting and visual change
Describe the epidemiology of migraines
- Most common cause of episodic headaches- 3 x more common in females- 90% have an onset before 40 years
What are the triggers for migraines?
CHOCOLATEC - chocolateH - hangoversO - orgasmsC - cheeseO - oral contraceptivesL - lie-insA - alcoholT - tumult (loud noises)E - exercise
What are 3 risk factors for migraines?
- Genetics/family history2. Female3. Age (adolescence)
Describe a theory for the pathophysiology of migraines
Irritation of trigeminal nuclei within the brainstem due to changes to arterial blood flow
What are 4 symptoms of migraines?
- Unilateral, throbbing-type pain (moderate to severe intensity)2. Nausea/vomiting3. Motion sensitivity4. Photophobia/phonophobia
What are 3 prodrome symptoms of migraines?
- Yawning2. Cravings3. Mood/sleep changes
What is aura?
- Precedes migraine attacks- Visual disturbances e.g. lines, dots, zig zags- Somatosensory disturbances e.g. paraesthesia, pins and needles
What are 2 investigations for patients with migraines?
- CT/MRI2. Lumbar puncture
How are migraines diagnosed?
At least 2 of:- Unilateral pain (4-72 hours)- Throbbing-type pain- Moderate to severe intensity- Motion sensitivityPlus at least 1 of:- Nausea/vomiting- Photophobia/phonophobia
What is the treatment for migraines?
- Triptans e.g. sumatriptan- NSAIDs e.g. naproxen- Anti-emetics e.g. prochlorperazine- Avoid opioids and ergotamine
What is used to prevent migraines?
- Beta blockers e.g. propranolol- TCAs e.g. amitriptyline- Anti-convulsants e.g. topiramate
What is a tension headache?
Mild to moderate pain that is often described as feeling like a tight band around the head
Describe the epidemiology of tension headaches
Most common chronic daily and recurrent headache
What are 9 triggers of tension headaches?
- Stress2. Sleep deprivation3. Bad posture4. Hunger5. Eyestrain6. Anxiety/depression7. Noise8. Dehydration9. Alcohol
What is the difference between episodic and chronic tension headaches?
Episodic <15 days/monthChronic >15 days/month (for at least 3 months)
Describe the pathophysiology of tension headaches
- Muscle ache in the frontalis, temporalis and occipitalis muscles- Come on and resolve gradually
What is the main symptom of tension headaches?
‘Pressure behind eyes’ - no aura, vomiting or sensitivity to head movement
What is the treatment for tension headaches?
- Avoidance of triggers and stress relief- Basic analgesia (aspirin, paracetamol, ibuprofen - avoid opioids)- Relaxation techniques- Hot towels to local area
What is a cluster headache?
Excruciating attacks of pain in one side of the head, often felt around the eye
Describe the epidemiology of cluster headaches
- 4 x more common in males- Much rarer than migraines- Typically affects adults in 20s-40s
What are 4 risk factors for cluster headaches?
- Male2. Genetics (autosomal dominant gene has a link)3. Smoker4. Alcohol
How long do cluster headaches last?
Episodic headaches, lasting from 7 days up to 1 year with pain-free periods in between that last ~4 weeks
How do cluster headaches present?
- Rapid onset of excruciating pain, classically around the eye (or temples or forehead)- Pain is strictly unilateral and localised to one area- Pain rises to a crescendo over a few minutes and lasts for 15-160 minutes, once or twice a day, usually around the same time of day
What are 5 ipsilateral autonomic features of cluster headaches?
- Watery and bloodshot eyes2. Facial flushing3. Rhinorrhoea (runny nose) 4. Miosis5. Ptosis
What is the treatment for acute cluster headaches?
- Analgesics unhelpful- 15L 100% O2 for 15 mins via non-rebreather mask- Triptans e.g. sumatriptan
What is used to prevent cluster headaches?
- Verapamil (CCB - 1st line)- Prednisolone- Reduced alcohol consumption and stop smoking
What is trigeminal neuralgia?
Type of secondary headache causing sudden, severe facial pain
Describe the epidemiology of trigeminal neuralgia
Around 5-10% of people with multiple sclerosis have trigeminal neuralgia
What are 4 triggers for trigeminal neuralgia?
- Cold weather2. Spicy food3. Caffeine4. Citrus fruits
Describe a theory for the pathophysiology of trigeminal neuralgia
Compression of the trigeminal nerve and its branches (ophthalmic, maxillary, mandibular)
How does trigeminal neuralgia present?
- Intense facial pain that comes on spontaneously and lasts anywhere between a few second to hours- Often described an electricity-like shooting pain- Attacks often worsen over time- 90% unilateral, 10% bilateral
What is the treatment for trigeminal neuralgia?
- Carbamazepine- Surgery to decompress or intentionally damage trigeminal nerve
What is amaurosis fugax?
Temporary blockage of artery to retina resulting in loss of vision in one or both eyes
When does amaurosis fugax happen?
Can happen as a result of strokes
What is epilepsy?
The recurrent tendency to spontaneous, intermittent, abnormal electrical activity in part of the brain, manifesting in seizures
Describe the epidemiology of epilepsy
Onset is most common in the extremes of ages e.g. <20 or >60
What are 6 causes of epilepsy?
- 2/3 idiopathic, often familial2. Cortical scarring e.g. trauma, cerebrovascular disease, infection3. Tumours/space-occupying lesions4. Strokes5. Alzheimer’s6. Alcohol withdrawal
What are 4 risk factors for epilepsy?
- Family history2. Premature babies3. Abnormal cerebral blood vessels4. Drugs e.g. cocaine
Describe the pathophysiology of epilepsy
- Seizures/convulsions are motor signs of abnormal electrical discharges- Epileptic seizures are convulsions that result directly from epileptic syndromes
Describe 6 ways in which non epileptic seizures differ from epileptic seizures
- Occur in abnormal metabolic circumstances e.g. low Na+, hypoxia2. Longer than epileptic seizures3. Do not occur in sleep4. No incontinence or tongue biting5. Pre-ictal anxiety signs6. No muscle pain
What are the 3 components of a seizure?
- Prodrome2. Aura3. Post-ictal
What is the prodrome component of a seizure?
- Precedes seizures by hours to days- Weird feeling (mood, behavioural changes)
What is the aura component of a seizure?
- Patient is aware and precedes other manifestations- Strange feelings in gut- Deja vu- Strange smells- Flashing lights- Can occur before a partial seizure
What is the post-ictal component of a seizure?
- After seizure- Headache- Confusion- Myalgia- Sore tongue (often bitten)- Temporary weakness after focal seizure in motor cortex = post-ictal Todd’s palsy- Dysphasia after temporal lobe seizure
What is the diagnosis criteria for epilepsy?
One of:- At least 2 unprovoked seizures occurring more than 24 hours apart- 1 unprovoked seizure and a probability of future seizures (>60% risk in 10 years)- Diagnosis of an epileptic syndrome
What are 4 investigations for patients with epilepsy?
- Electroencephalogram (EEG)2. MRI (find structural problems e.g. tumours, space-occupying lesions that may be associated with seizures)3. ECG (to exclude heart problems)4. Bloods (to exclude metabolic disturbances)
What are 7 medication options for epilepsy/seizures?
- Sodium valproate2. Carbamazepine3. Lamotrigine4. Ethosuximide5. Phenytoin6. Levetiracetam7. Topiramate
Females of child-bearing potential experiencing seizures should not be given what medication?
Sodium valproate, carbamazepine
What are the 2 broad types of seizures?
- Primary generalised seizures2. Partial focal seizures
What are primary generalised seizures?
Abnormal electrical activity in both hemispheres of the brain
Describe primary generalised seizures
- 40% of seizures- Whole cortex affected- Bilateral and symmetrical motor manifestations- Loss of consciousness and awareness
What are 6 types of primary generalised seizures?
- Tonic2. Clonic3. Tonic clonic4. Myoclonic5. Atonic6. Absence
What are 6 clinical presentations of tonic clonic seizures?
- Loss of consciousness 2. Tonic (muscle tensing) and clonic (muscle jerking) episodes (tonic usually comes before clonic)3. Tongue biting4. Incontinence5. Groaning6. Irregular breathing
Describe the post-ictal period of a tonic clonic seizure
Patient is confused, drowsy and feels irritable or depressed
What is the treatment for tonic clonic seizures?
- Sodium valproate (first line)- Lamotrigine or carbamazepine (second line)
What are 2 clinical presentations of myoclonic seizures?
- Sudden brief muscle contractions (sudden ‘jump’)2. Patient is usually awake during the episode
Who do myoclonic seizures most commonly occur in?
Children as part of juvenile myoclonic epilepsy
What is the treatment for myoclonic epilepsy?
- Sodium valproate (first line)- Lamotrigine, levetiracetam or topiramate
What are 4 clinical presentations of atonic seizures?
- Brief lapses in muscle tone2. Sudden loss of muscle strength3. Part/all of the body becomes limp (a.k.a ‘drop attacks’)4. Usually last <3 minutes
Who do atonic seizures most commonly occur in?
- Typically begin in childhood- May be indicative of Lennox-Gastaut syndrome
What is the treatment for atonic seizures?
- Sodium valproate (first line)- Lamotrigine (second line)
What are 4 clinical presentations of absence seizures?
- Patient become blank and stares into space2. Abruptly returns to normal3. Patient is unaware of their surroundings and won’t respond during the episode4. Typically only last 10-20 seconds
Who do absence seizures most commonly occur in?
- Children- >90% of patients stop having absence seizures as they get older
What is the treatment for absence seizures?
Sodium valproate or ethosuximide
Describe partial focal seizures
- 60% (most common type of seizure experience by people with epilepsy)- Starts in one side of the brain and usually only affects one side of the body
Describe single lobe features of partial focal seizures
- Underlying structural disease- Limited to a lobe- Progresses to become generalised seizures
Describe simple partial seizures
- Does not affected consciousness/memory- No post-ictal signs- Motor, sensory, autonomic, psychic signs
Describe complex partial seizures
- Memory affected before, during and after- Usually affects temporal lobe- Post-ictal confusion common in temporal lobe seizures
What are 5 clinical presentations of seizures affecting the temporal lobes?
- Hallucinations2. Memory flashbacks3. Deja vu4. Anxiety5. Automatisms e.g. lip smacking
What do seizures affecting the temporal lobes affect?
Hearing, speech, memory and emotions
What is the treatment for seizures affecting the temporal lobes?
- Lamotrigine or carbamazepine (first line)- Sodium valproate or levetiracetam (second line)
How do seizures affecting the frontal lobes present?
- Motor disturbances- Jacksonian march (abnormal movement/sensation starting in a small area and then ‘marching’/spreading to a larger part of the body- Patients do not lose awareness- Post-ictal Todd’s palsy
What do seizures affecting the parietal lobes affect?
Sensation
What do seizures affecting the occipital lobes affect?
Vision (visual phenomena e.g. spots, lines, flashes)
What is sciatica?
Pain that travels along the path of the sciatic nerve (L4-S3)
What are 9 causes of spinal cord compression?
- Osteoarthritis2. Trauma3. Tumours4. Central disc protrusion5. Prolapsed disc (L4-L5 and L5-S1 most common)6. Epidural haematoma7. Infection8. Cervical spondylitic myelopathy9. Scoliosis
What are 3 causes of sciatica?
- Herniated disc2. Spondylolisthesis 3. Spinal stenosis
What is spondylolisthesis?
Anterior displacement of a vertebra out of line with the one below
Describe the pathophysiology of spinal cord compression
- Pressure on the spinal cord causes nerves in the spinal cord to swell and slow down/block blood supply- Nerves are unable to function normally
What does the sciatic nerve do?
- Supplies sensation to the lateral lower leg and the foot- Supplies motor function to the posterior thigh, lower leg and foot
Where does the sciatic nerve divide?
At the knee into the tibial and common peroneal nerves
What are 3 red flag presentations in spinal cord compression?
- Loss of bladder/bowel function2. UMN in lower limbs e.g. clonus, hyperreflexia3. LMN signs in upper limbs e.g. atrophy
What are 4 clinical presentations of spinal cord compression?
- Pain and stiffness in the neck, back or lower back2. Paraplegia3. Paraesthesia 4. Changes to tendon reflexes
What are 5 clinical presentations of sciatica?
- Unilateral ‘shooting’/’electric’ pain from the buttock radiating to the back of the thigh to below the knee or feet2. Paraesthesia3. Numbness4. Motor weakness5. Affected reflexes
What is bilateral sciatica an indication of?
Cauda equina syndrome
What are 5 investigations for patients with spinal cord compression/sciatica?
- History (SOCRATES for pain, any trauma etc.)2. X-ray/CT whole spine3. MRI (if suspected cauda equina)4. Haemoglobin - to monitor blood loss5. Check renal function
What is a specific investigation for sciatica?
Sciatic stretch test
Describe the sciatic stretch test
- Patient lies on their back with leg straight- Examiner lifts one leg from the ankle with the knee extended until the limit of hip flexion is reached- Examiner dorsiflexes the patient’s ankle- Sciatica-type pain in the buttock/posterior thigh indicates sciatic nerve root irritation- Symptoms improve with flexing the knee
What is the treatment for spinal cord compression/sciatica?
- Dexamethasone until treatment plan confirmed- Catheterisation- Analgesia- Surgical decompression- Chemotherapy if indicated
What are 3 complications of spinal cord compression/sciatica?
- Cauda equina syndrome2. Chronic pain3. Paralysis
What is cauda equina syndrome?
Compression of the nerve roots of the cauda equina at the bottom of the spine
What are 5 causes of cauda equina syndrome?
- Herniated disc (most common)2. Tumours3. Spondylolisthesis4. Abscess (infection)5. Trauma
What does the cauda equina do?
- Supplies sensation to the lower limbs, perineum, bladder and rectum- Supplies motor innervation to the lower limbs and the anal and urethral sphincters- Supplies parasympathetic innervation of the bladder and rectum
What are 8 clinical presentations of cauda equina syndrome?
- Saddle anaesthesia (loss of sensation in the perineum)2. Loss of sensation in bladder and rectum3. Urinary retention or incontinence4. Faecal incontinence5. Bilateral sciatica6. Bilateral or severe motor weakness in legs7. Reduced anal tone8. LMN signs (reduced tone and reflexes)
What is the investigation for cauda equina syndrome?
MRI
What is the treatment for cauda equina syndrome?
Neurosurgical emergency:- Immediate hospital admission- Emergency MRI- Emergency lumbar decompression surgery- Anti inflammatory agents- Antibiotics if infection present- Chemotherapy if indicated
What is a complication of cauda equina syndrome?
Permanent neurological dysfunction
What is an ischaemic stroke?
Occlusion of blood vessels to/in the brain due to a clot
What are 4 causes of ischaemic strokes/transient ischaemic attacks?
- Thromboemboli2. Hypoviscosity3. Hypoperfusion4. Vasculitis
What are 9 risk factors for ischaemic/haemorrhagic strokes or transient ischaemic attacks?
Same as CVD risk factors:1. Age2. Male3. HTN4. Smoking5. Diabetes6. Recent/past TIA7. Hyperlipidaemia8. Heart disease (IHD, valve disease)9. AF
Describe the pathophysiology of ischaemic strokes
- Clot occludes a blood vessel- Causes ischaemia and infarction to certain areas of the brain
What is a cerebral infarct?
- Occlusion of large blood vessel to cerebrum e.g. internal carotid artery, middle cerebral artery- More common
What is a lacunar infarct?
- Occlusion of smaller blood vessels- Affects smaller areas and produces more specific symptoms- e.g. internal capsule, basal ganglia, thalamus, pons- Rarer and often asymptomatic
What are 4 clinical presentations of ischaemic/haemorrhagic strokes and transient ischaemic attacks?
- Sudden weakness of limbs and face2. Dysphasia3. Vision and unilateral, asymmetrical, contralateral sensory loss4. Nausea and vomiting
What are 2 investigations for patients having ischaemic/haemorrhagic strokes?
- CT (first line)2. Diffusion-weighted MRI
Why is a CT necessary for identifying strokes?
- Distinguishes ischaemic from haemorrhagic- Shows site of infarct- Identifies conditions mimicking a stroke
Why is a diffusion-weight MRI good for identifying strokes?
- More sensitive- CTs may be negative in the first few hours after infarct- Indicated if diagnosis is uncertain
What is the immediate treatment for ischaemic strokes?
- Exclude haemorrhagic stroke- Aspirin 300mg
What is the treatment for ischaemic strokes?
- Antiplatelet therapy e.g. aspirin and clopidogrel- Anticoagulation e.g. warfarin- Thrombolysis- Mechanical thrombectomy (endovascular removal of thrombus)
Describe thrombolysis
- Break up clots- Must happen within 4.5 hours of symptom onset- IV alteplase- Can cause lots of bleeding (lots of contraindications)
What is a haemorrhagic stroke?
Reduced blood flow due to intracranial bleeding
Describe the pathophysiology of haemorrhagic strokes
- Rupture of blood vessel within the brain- Causes bleeding into brain tissues- Pooling blood increases ICP- Leads to ischaemia and infarction
What is the treatment for haemorrhagic strokes?
- Neurosurgery referral (evacuate blood)- IV mannitol for raised ICP- Stop anticoagulants immediately
What is a transient ischaemic attack?
Sudden onset transient neurological dysfunction secondary to ischaemic without infarction
Describe the pathophysiology of transient ischaemic attacks
- Reduced blood flow to brain tissue- Never any infarction therefore no lasting damage
What is a crescendo TIA?
- 2 or more TIAs in one week- High risk factor for stroke
How do symptoms of transient ischaemic attacks differ from ischaemic/haemorrhagic strokes?
- Temporary- Sometimes precede a stroke- Always last <24 hours without infarction (typically resolve within 10 minutes)
What are the investigations for patients having transient ischaemic attacks?
- CT - Diffusion-weighted MRI- Can only be differentiated from a stroke until after recovery
What is the treatment for TIAs?
- Acute = aspirin- Long term prophylaxis = clopidogrel and atorvastatin
What is an intracerebral haemorrhage?
Bleeding within brain tissue
What are 3 causes of intracerebral haemorrhages?
- Can occur spontaneously2. As a result of bleeding into an ischaemic infarct or tumour3. Aneurysm
Describe the pathophysiology of intracerebral haemorrhages
- Rupture of blood vessel within the brain- Causes bleeding into brain tissues- Leads to ischaemia and infarction - Pooling blood increases ICP
How do intracerebral haemorrhages present?
Similarly to ischaemic strokes- Sudden weakness of limbs and face- Dysphasia- Vision and unilateral, asymmetrical, contralateral sensory loss- Nausea and vomiting
What is the treatment for intracerebral haemorrhages?
- Neurosurgery referral- IV mannitol for raised ICP- Stop anticoagulants immediately
What is a complication of intracerebral/subarachnoid haemorrhages?
Haemorrhagic stroke
What is a subarachnoid haemorrhage?
Bleeding into the subarachnoid space (in between pia and subarachnoid meningeal layers)
What is the most common cause of subarachnoid haemorrhages?
Ruptured cerebral aneurysm
Describe the pathophysiology of subarachnoid haemorrhages
- Bleeding into subarachnoid space- Blood will accumulate and cause raised ICP- Increased ICP may push on structures and cause ischaemia and infarction
What is the main symptom of subarachnoid haemorrhages?
‘Thunderclap’ headache
What is the treatment for subarachnoid haemorrhages?
- Neurosurgery referral- IV mannitol for raised ICP- Stop anticoagulants immediately
What is an extradural/epidural haemorrhage?
Bleeding into extradural space (between the skull and dura) due to ruptured middle meningeal artery
Describe the epidemiology of extradural/epidural haemorrhages
- More common in males- More common in young people
What is the most common cause of extradural/epidural haemorrhages?
Ruptured middle meningeal artery due to fractured temporal bone (associated with traumatic head injury)
Describe the pathophysiology of extradural/epidural haemorrhages
- Bleeding into extradural space- Blood will accumulate and cause raised ICP- Increased ICP may push on structures and cause ischaemic and infarction
What are 3 signs of extradural/epidural haemorrhages?
- Raised ICP2. Ipsilateral pupil dilation3. Seizures
What are 5 symptoms of extradural/epidural haemorrhages?
- Increasingly severe headaches2. Rapidly declining consciousness level3. Vomiting4. Hemiparesis (weakness on one side of the body)5. Deep and irregular breathing
Describe extradural/epidural haemorrhages’ lucid interval
- Hours- Initial drowsiness/unconsciousness, then recovery- Then rapid deterioration later on
What are 2 investigations for patients with extradural/epidural haemorrhages?
- CT2. X-ray of skull (fracture lines might be seen)
What does a CT look like in patients with extradural/epidural haemorrhages?
- Appears bi-convex (lemon-shaped)- Unilateral- Shows midline shift- Limited by cranial strictures
What is the treatment for extradural/epidural haemorrhages?
- Neurosurgery = clot evacuation, ligation of bleeding vessel- IV mannitol for raised ICP- Stop anticoagulants immediately
What can extradural/epidural/subdural haemorrhages lead to?
Haemorrhagic stroke (rare)
What is a subdural haemorrhage?
Bleeding into subdural space (between dura and arachnoid mater) due to ruptured bridging vein
Describe the epidemiology of subdural haemorrhages
More common in babies or people with brain atrophy (dementia, elderly, alcoholics) as their veins are more susceptible to rupture
What are 5 risk factors for subdural haemorrhages?
- People on anticoagulantsAccident-prone people:2. Dementia3. Elderly4. Alcoholics5. Epileptics
What is the most common cause of subdural haemorrhages?
Ruptured bridging veins out outer meningeal layers (run from cortex to venous sinuses - associated with traumatic head injury)
Describe the pathophysiology of subdural haemorrhages
- Bleeding from bridging veins into subdural space- Forms a haematoma (solid swelling of clotted blood)- Bleeding stops- Weeks/months later the haematoma will start to autolyse- This causes a large increase in oncotic and osmotic pressure- Water moves in and the haematoma enlarges- Blood will accumulate and cause raised ICP- Increased ICP may push on structures and cause ischaemic and infarction
What are 5 signs of subdural haemorrhages?
- Raised ICP2. SeizuresLocal neurological signs:3. Unequal pupils4. Hemiparesis5. Occur later (often >1 month after injury)
What are 7 symptoms of subdural haemorrhages?
- Fluctuating levels of consciousness2. Drowsiness3. Headache4. Confusion5. Insidious physical and intellectual slowing6. Personality change7. Unsteadiness
Describe subdural haemorrhages’ latent interval
- Weeks to months- Initial drowsiness/unconsciousness, then recovery- Then rapid deterioration later on
What is the investigation for patients with subdural haemorrhages?
CT
What does a CT look like in patients with subdural haemorrhages?
- Haematoma- Appears crescent-shaped (banana-shaped)- Unilateral- Midline structures shifted away from side of clot- Not limited by cranial strictures
What is the treatment for subdural haemorrhages?
- Neurosurgery = clot evacuation to remove haematoma, craniotomy, Burr hole washout- IV mannitol for raised ICP- Stop anticoagulants immediately
What are 4 causes of cranial nerve lesions?
- Trauma2. Tumours3. Meningitis4. MS
What is CN I and what will a lesion there cause?
- Olfactory- Reduced taste and smell- Can still smell ammonia (as it stimulates pain fibres carried in the trigeminal nerve)
What is CN II and what will a lesion there cause?
- Optic- Visual field defects (unilateral visual loss)
What is CN III and what will a lesion there cause?
- Oculomotor- Ptosis (dropping eyelids)- Down and out eye- Fixed dilated pupil
What is CN IV and what will a lesion there cause?
- Trochlear- Diplopia (double vision) looking down
What is CN V and what will a lesion there cause?
- Trigeminal - Jaw deviates towards affected side- Loss of corneal reflex- Trigeminal neuralgia
What is CN VI and what will a lesion there cause?
- Abducens- Adducted eye- Sign of raised ICP
What is CN VII and what will a lesion there cause?
- Facial nerve- Facial drop with no forehead sparing- Due to Bell’s palsy, parotid inflammation
What is CN VIII and what will a lesion there cause?
- Vestibulocochlear - Hearing loss- Loss of balance- Due to skull changes, compression
What is CN IX and what will a lesion there cause?
- Glossopharyngeal- Impaired gag reflex- Swallowing, respiratory and vocal issues- Due to jugular foramen lesion
What is CN X and what will a lesion there cause?
- Vagus- Impaired gag reflex- Swallowing, respiratory and vocal issues- Due to jugular foramen lesion
What is CN XI and what will a lesion there cause?
- Spinal accessory- Inability to shrug shoulders or turn head
What is CN XII and what will a lesion there cause?
- Hypoglossal- Tongue deviation towards side of lesion
Where do CNs III-XII arise from?
The brainstem
What is motor neurone disease?
A group of progressive neurodegenerative disorders characterised by loss of neurones in the motor cortex, cranial nerve nuclei and anterior horn cells
Describe the epidemiology of motor neurone disease
- 5-10% of cases are inherited- Most commonly presents in late middle aged (60) men
What are 4 motor neurone diseases?
- Amyotrophic lateral sclerosis (ALS - most common - 80%)2. Progressive bulbar palsy (second most common)3. Progressive muscular atrophy4. Primary lateral sclerosis
What are 4 risk factors for motor neurone disease?
- Genetics (family history)2. Smoking3. Exposure to heavy metals4. Pesticides
Describe the general pathophysiology of motor neurone disease
- Progressive degeneration of both upper and lower motor neurones- Does not affect sensory neurones
Describe the pathophysiology of amyotrophic lateral sclerosis (ALS)
- Loss of neurons in the motor cortex and anterior horn - Affects both UMN and LMN- Asymmetric
Describe the pathophysiology of progressive bulbar palsy
- Affects cranial nerves 9-12- Affects both UMN and LMN
Describe the pathophysiology of progressive muscular atrophy
- Affected anterior horn cells- Only affects LMN
Describe the pathophysiology of primary lateral sclerosis
Only affects UMN
What are upper motor neuron lesions?
Any damage to motor neurons that reside above the nuclei of cranial nerves or the anterior horn cells of the spinal cord
What are lower motor neuron lesions?
Damage anywhere from the anterior horn of the spinal cord, peripheral nerve, neuromuscular junction or muscle
What are 4 signs of lower motor neurone lesions/disease?
- Muscle wasting2. Hypotonia (reduced tone)3. Fasciculations (twitches in muscles)4. Reduced reflexes
What are 3 signs of upper motor neurone lesions/disease?
- Hypertonia (increased tone or spasticity)2. Brisk reflexes (hyperreflexia)3. Clonus (involuntary muscle contractions)
What are 5 symptoms of motor neurone disease?
- Insidious, progressive weakness of muscles affecting limbs, trunk and face2. Weakness often first noticed in upper limbs3. Increased fatigue when exercising4. Clumsiness (dropping things or tripping over)5. Dysarthria (slurred speech)
What are 5 clinical presentations of progressive bulbar palsy?
- Dysphagia2. Chewing difficulties3. Flaccid tongue4. Speech is hoarse, quiet and nasal5. Normal/absent jaw jerk (LMN)
How does progressive muscular atrophy present?
Distal muscles affected first then proximal
How does primary lateral sclerosis present?
Progressive tetraparesis (muscle weakness in all 4 limbs)
How is motor neurone disease diagnosed?
- Clinical presentation- Excluding other conditions that can cause motor neurone symptoms
What is the treatment for motor neurone disease?
- No effective treatment- Non-invasive ventilation (NIV) (supports breathing at night to improve survival and quality of life)- End of life care- ALS = riluzole (slows progression of disease and extends survival by a few months)
Which motor neurone disease has the worst prognosis?
Progressive bulbar palsy
What is Lambert Eaton Syndrome?
Condition in which the immune system attacks the neuromuscular junctions a.k.a Lambert Eaton myasthenic syndrome
Describe the epidemiology of Lambert Eaton Syndrome
Typically occurs in patients with small cell lung cancer
Describe the pathophysiology of Lambert Eaton Syndrome
- Antibodies against voltage-gated calcium channels produced in small cell lung cancer cells- The antibodies also target and damage voltage-gated calcium channels in the presynaptic terminals of neuromuscular junctions- Damage to neuromuscular junctions causes less acetylcholine to be released into synapses meaning muscle contractions cannot be as easily stimulated
Which condition is Lambert Eaton Syndrome similar to?
Myasthenia gravis
How does Lambert Eaton Syndrome differ from myasthenia gravis?
Symptoms tend to be more insidious and less pronounced
Which muscles are most notably affected in Lambert Eaton Syndrome?
Proximal muscles - most common is proximal leg muscle weakness
What are 9 clinical presentations of Lambert Eaton Syndrome?
- Diplopia2. Ptosis3. Blurred vision4. Dysphagia5. Slurred speech6. Dry mouth7. Impotence8. Dizziness9. Reduced tendon reflexes
What is a notable finding in patients with Lambert Eaton Syndrome?
- Reduced tendon reflexes- Reflexes become temporarily normal for short periods following periods of strong muscle contraction- Post-tetanic potentiation
What are 4 investigations for patients with Lambert Eaton Syndrome?
- Nerve conduction studies2. Low-frequency repetitive nerve stimulation3. Anti-P/Q voltage gated calcium channel serology4. Chest CT
What is the treatment for Lambert Eaton Syndrome?
- Amifampridine- Immunosuppressants e.g. prednisolone, azathioprine- IV immunoglobulins- Plasmapheresis
How does amifampridine work?
- Allows more ACh to be released into neuromuscular junction synapses- Blocks voltage-gated potassium channels in presynaptic cells- This prolongs the depolarisation of cell membranes and assist calcium channels in carrying out their action
What is syncope (a.k.a fainting, vasovagal episodes)?
Temporary loss of consciousness due to a disruption of blood flow to the brain
Describe the epidemiology of syncope
Common in children, particularly teenage girls
What are 4 causes of primary syncope?
- Dehydration2. Missed meals3. Extended standing in a warm environment4. Vasovagal response to stimuli e.g. sudden surprise, pain, sign of blood
What are 8 secondary causes of syncope?
- Hypoglycaemia2. Dehydration3. Anaemia4. Infection5. Anaphylaxis6. Arrhythmias7. Valvular heart disease8. Hypertrophic obstructive cardiomyopathy
Describe the pathophysiology of syncope
- Failure of the autonomic nervous system to regulate blood flow to the brain- When the vagus nerve receives a strong stimulus (e.g. emotional event, painful sensation, change in temperature), the parasympathetic nervous system is stimulated- Blood vessels dilate, causing blood pressure in the cerebral circulation to drop- This leads to hypoperfusion of brain tissue and the patient loses consciousness
Describe prodrome in syncope
- Feeling prior to fainting- Hot and clammy- Sweaty- Heavy- Dizzy/lightheaded- Blurred/dark vision- Headache
Describe collateral history of syncope
- Sudden loss of consciousness and falling to the ground- Unconscious on the ground for a few seconds to a minute - May be some twitching, shaking or convulsion activity
What are 2 other clinical presentations of syncope?
- Groggy feeling afterwards- Incontinence
What are 5 investigations for patients experiencing syncope?
- History2. Examination3. ECG (arrhythmias)4. Echocardiogram5. Bloods (FBC, electrolytes, glucose - anaemia, arrhythmias, seizures, diabetes)
When discussing syncope, what are 5 important things to gain from taking a history?
- Distinguish a syncopal episode from a seizure2. Triggers3. Syncope after exercise is more likely to be secondary to an underlying trigger4. Associated cardiac/neurological symptoms5. Family history
When discussing syncope, what are 4 important things to check when doing an examination?
- Any physical injuries as result2. Concurrent illnesses3. Neurological/cardiac examination4. Lying and standing blood pressure
What is the treatment for syncope?
- Avoid dehydration/missing meals/standing still for long periods- Sit or lie down and have some water/eat something when experiencing prodromal symptoms
What is carpal tunnel syndrome?
Compression of the median nerve in the carpal tunnel, causing pain and numbness
Describe the epidemiology of carpal tunnel syndrome
- More common in late 50s and late 70s- More common in pregnant women
What are 3 causes of carpal tunnel syndrome?
- Idiopathic2. Swelling of contents (e.g. swelling of tendon sheaths due to repetitive strain)3. Narrowing of tunnel
What are 7 risk factors for carpal tunnel syndrome?
- Repetitive strain2. Obesity3. Perimenopause4. Rheumatoid arthritis5. Diabetes6. Acromegaly7. Hypothyroidism
Describe the pathophysiology of carpal tunnel syndrome
- Compression of the contents of the carpal tunnel - median nerve and flexor tendons- Median nerve supplies sensation to the thumb, index finger, middle finger and half of the ring finger
Which fingers does carpal tunnel syndrome affect?
Thumb, index finger, middle finger and lateral half of ring finger (index and middle fingers often affected first)
What are 4 sensory symptoms of carpal tunnel syndrome?
- Paraesthesia (pins and needles)2. Pain, can reach the shoulder3. Numbness4. Burning sensation
What are 4 motor symptoms of carpal tunnel syndrome?
- Weakness of grip strength2. Weakness of thumb movements3. Difficulty with fine movements involving the thumb4. Muscle atrophy of the thenar muscles
How are symptoms of carpal tunnel syndrome distributed?
- Symptoms come and go- Typically worse at night
What are 5 investigations for patients with carpal tunnel syndrome?
- Phalen’s test2. Tinel’s test3. Carpal tunnel questionnaire4. Nerve conduction studies5. USS/MRI if other damage suspected
Describe Phalen’s test
- For carpal tunnel syndrome- Fully flex the wrist- Positive = position triggers sensory symptoms of carpal tunnel syndrome
Describe Tinel’s test
- For carpal tunnel syndrome- Tap the wrist at the location where the median nerve travels through the carpal tunnel- Positive = position triggers sensory symptoms of carpal tunnel syndrome
What are nerve conduction studies?
- E.g. for carpal tunnel syndrome- Small electrical current applied to the median nerve on one side of the carpal tunnel- Electrodes over the median nerve on the other side record the electrical current that reaches them- Demonstrates how well signals are passing through the carpal tunnel along the median nerve
What is the treatment for carpal tunnel syndrome?
- 1/4 cases are self-limiting within 1 year- Pregnancy cases usually resolve post-partum- Rest the wrist and avoid gripping/squeezing actions- Splint- Steroid injections- Surgery (flexor retinaculum cut to release pressure on the median nerve)
What is ‘wrist drop’?
Deformity of a radial nerve palsy
What are 7 causes of ‘wrist drop’?
- Fractures of proximal humerus, shaft of humerus or radius2. Stab wounds to antecubital fossa, forearm or wrist (includes blood tests and cannulation)3. Pressure of crutches on armpits (‘crutch palsy’)4. Falling asleep with arm hanging over back of a chair (‘Saturday night palsy’)5. Somebody else falling asleep with their head on the patient’s arm (‘honeymoon palsy’)6. Excessively tight plaster casts, wristbands or handcuffs7. Prolonged tourniquet use on the arm
What does the radial nerve supply sensation to?
- Posterior arm and forearm- Lateral 2/3 of dorsum of hand- Proximal dorsal aspect of lateral 3 1/2 fingers (thumb, index, middle and half of ring finger)
What does the radial nerve supply motor sensation to?
- Triceps- Posterior forearm
What are 4 symptoms of ‘wrist drop’?
- Numbness of skin over affected areas2. Weak elbow extension3. Weak wrist4. Absent triceps and supinator reflexes
What is the investigation for ‘wrist drop’?
- Flex elbow, pronate forearm and ask patient to extend wrist/fingers- Positive = patient will be unable to perform this manoeuvre
What is the treatment for ‘wrist drop’?
- Analgesia (NSAIDs)- Physical therapy- Splint or cast- Transcutaneous electrical nerve stimulation (TENS)- Surgery
What is ‘claw hand’?
Deformity of an ulnar nerve palsy
What are 4 causes of ‘claw hand’?
- Supracondylar fracture of the humerus2. Fractures or soft tissue injuries to medial epicondyle of humerus3. Stab wounds to forearm or wrist (includes blood test and cannulation)4. Compression either at the cubital tunnel in the elbow or at Guyon’s canal in the wrist
What does the ulnar nerve supply sensation to?
- Skin over hypothenar eminence- Medial 1/3 palm of hand- Palmar aspect of the medial 1 1/2 fingers- Medial 1/3 dorsum of hand- Dorsal aspect of medial 1/2 fingers
What does the ulnar nerve supply motor sensation to?
- Anterior forearm- Intrinsic muscles of the hand
What are 6 symptoms of ‘claw hand’?
- Numbness over hypothenar eminence and ulnar distribution of hand2. Weak wrist and adduction3. Weak flexion of ring and little finger DIPJs4. Weak MCPJ flexion and IPJ extension of ring and little fingers5. Loss of finger abduction and adduction6. Loss of opposition of little finger
What is the investigation for ‘claw hand’?
- Extend IPJs of ring and little fingers- Positive = patient unable to do this
What is the treatment for ‘claw hand’?
- Analgesia (NSAIDs)- Physical therapy- Splint or cast- Transcutaneous electrical nerve stimulation- Surgery
What is ‘foot drop’?
Damage to the common peroneal/fibular nerve making it difficult to lift the front part of the foot, result in dragging of the toes
What are 6 causes of ‘foot drop’?
- Injury2. Lower back damage3. Tumour4. Hip replacement5. Cauda equina syndrome6. Multiple sclerosis
What does the common peroneal/fibular nerve supply sensation to?
Skin of the lateral leg and dorsum of foot
What does the common peroneal/fibular nerve supply motor sensation to?
- Short head of biceps femoris- Muscles in lateral and anterior compartments of leg
What are 3 symptoms of ‘foot drop’?
- One foot dragging across the floor when walking2. Tripping3. Numbness/weakness in the same side (symptoms are unilateral)
What are 2 investigations for patients with ‘foot drop’?
- Imaging (X-ray/USS/CT/MRI) to find underlying cause2. Nerve conduction studies to find underlying cause
What is the treatment for ‘foot drop’?
- Can be permanent or temporary- Brace/splint- Physiotherapy- Specialised shoes to prevent foot drop when walking)- Nerve stimulation- Surgery
What is peripheral neuropathy?
Damage to the peripheral nervous system
What is mononeuropathy multiplex?
A type of peripheral neuropathy in which there is damage to at least two different areas of the peripheral nervous system
What are 5 causes of peripheral neuropathy?
DAVIDD - diabetes mellitusA - alcoholismV - vitamin B12 deficiencyI - infective/inherited (Guillian-Barre/Charcot-Marie-Tooth)D - drugs
What are 4 causes of mononeuropathy multiplex?
- Diabetes2. Rheumatoid arthritis3. Lupus4. Diseases affecting the blood vessels
What are the 6 main pathophysiology mechanisms of peripheral neuropathy?
- Demyelination (schwann cell damage e.g. Guillian-Barre syndrome)2. Axonal degeneration (axons die but conduction speed remains normal)3. Wallerian degeneration (fibre degeneration when the fibre is cut or crushed - axon and myelin degenerate)4. Compression (e.g. carpal tunnel syndrome)5. Infarction (e.g. Churg-Strauss syndrome, diabetes)6. Infiltration (e.g. leprosy. sarcoidosis)
What are 5 symptoms of peripheral neuropathy?
- Burning pain2. Tingling3. Numbness4. Pain5. Partial paralysis
What is an investigation for peripheral neuropathy?
Nerve conduction studies
What is the treatment for mononeuropathy multiplex?
- Maintain healthy weight and diet- Smoking cessation
What is a complication of peripheral neuropathy?
Paralysis
What is Brown-Sequard syndrome?
Neurological condition that results from a hemisection to the spinal cord
What is the most common cause of Brown-Sequard syndrome?
Penetrating trauma
Describe the pathophysiology of Brown-Sequard syndrome
- Hemisection of spinal cord- Crossing of fibres in the spinothalamic tract (causes some ipsilateral and contralateral symptoms)- Most cases seen in the cervical and thoracic region
What are 4 clinical presentations of Brown-Sequard syndrome?
- Ipsilateral loss of position, light touch and vibration sensation at the level of the lesion2. Contralateral loss of pain and temperature below the lesion3. Sphincter disturbances4. Ipsilateral spastic paraparesis (muscle weakness with spasms)
What are 3 investigations for patients with Brown-Sequard syndrome?
- Plain radiographs for penetrating or blunt trauma2. MRI to determine extent of injury3. Neurological examination to establish level of injury
What is the treatment for Brown-Sequard syndrome?
- Spine immobilisation- Steroids to decrease swelling- Physical therapy- Occupational therapy- Surgery
What is Charcot-Marie-Tooth syndrome?
Inherited disease that affects the peripheral motor and sensory nerves
Describe the epidemiology of Charcot-Marie-Tooth syndrome
- Most common inherited neuromuscular disorder- CMT1 = onset by 10 years- CMT2 = onset between 10-20 years- CMT3 = infantile onset, usually by 2 years- CMTX = more severe in males
What are 5 causes of Charcot-Marie-Tooth syndrome?
ABCDE:A - alcoholB - B12 deficiencyC - cancer/CKDD - diabetes/drugsE - every vasculitis
Describe the pathophysiology of Charcot-Marie-Tooth syndrome
- CMT1 = production of abnormal, unstable myelin- CMT2 = primarily an axonal disorder- CMT3 = characterised by marked segmental demyelination- CMTX = demyelinating neuropathy- Majority of types are mutations inherited in an autosomal dominant pattern
How does Charcot-Marie-Tooth 1 syndrome present?
- Muscle weakness starting in feet and working up (‘inverted champagne bottle’)- Sensory loss in the same pattern as weakness- Foot drop and spinal deformities
How does Charcot-Marie-Tooth 2 syndrome present?
Weakness and wasting pattern same as CMT1
How does Charcot-Marie-Tooth 3 syndrome present?
Hypertonia (floppy baby syndrome)
How does Charcot-Marie-Tooth X syndrome present?
Similar presentation as CMT1
What are 6 investigations for patients with Charcot-Marie-Tooth syndrome?
- Bloods (FBC, TFTs, LFTs, B12, folate)2. CSF examination3. MRI brain and spinal cord4. Genetic studies5. Nerve conduction studies6. Nerve biopsy
What is the treatment for Charcot-Marie-Tooth syndrome?
- No treatment to prevent progressionSupportive management:- Surgical correction (if spinal deformity)- Analgesia- Avoid neurotoxic drugs e.g. vincristine (can exacerbate condition)
What is Duchenne muscular dystrophy?
Inherited disorder characterised by progressive muscle wasting and weakness
Describe the epidemiology of Duchenne muscular dystrophy
- X-linked recessive condition = more common in males- Usually presents in early childhood, before 3
Describe the pathophysiology of Duchenne muscular dystrophy
- Mutation on DMD gene- Lack of dystrophin (molecule that strengthens muscle fibres and protects from injury)- = damage to sarcolemma and cell death
What are 6 clinical presentations of Duchenne muscular dystrophy?
- Progressive proximal muscular dystrophy which characteristics pseudohypertrophy of calves2. Fatigue3. Inability to run/hop/jump4. Recurrent falls5. Speech delay6. Major milestones delayed
What are 5 investigations for patients with Duchenne muscular dystrophy?
- Serum creatine kinase = very high2. Genetic analysis3. Muscle biopsy with assay for dystrophin protein4. Muscle strength test5. Gait assessment
What is the treatment for Duchenne muscular dystrophy?
- Immunisations - Physiotherapy- Vitamin D and bisphosphonates- Corticosteroids- Mobility help- Nutritional care
What are 6 complications of Duchenne muscular dystrophy?
- Joint contractures2. Respiratory failure (most common cause of death)3. Cardiomyopathies and heart failure4. Gastric dilation5. Learning difficulties6. Constipation, osteoporosis, hypertension
What is the prognosis for patients with Duchenne muscular dystrophy?
Poor:- Wheelchair by 12- Death by 30
What are 4 types of primary brain tumours?
- Glioma (tumour of glial cells - astrocytoma, oligodendroglioma, ependymoma)2. Meningioma (tumour from cells of meninges - usually benign)3. Schwannoma (tumour of Schwann cells)4. Acoustic neuroma (tumour of Schwann cells surrounding auditory nerve)
What is the most common type of primary brain tumour?
Astrocytoma
What is the main sign of primary brain tumours?
Raised ICP
What are 3 symptoms of primary brain tumours?
Small ones tend to be asymptomaticSymptoms of raised ICP:- Headache that is constant, nocturnal, worse on waking and worse on coughing/straining/bending forward- Vomiting- Visual field defects
What are 3 symptoms of acoustic neuromas?
Usually unilateral1. Hearing loss2. Tinnitus3. Balance problems
What is an investigation for patients with primary brain tumours?
Fundoscopy will show papilloedema (swelling of the optic disc due to raised ICP)- Blurring of optic disc margin- Elevated optic disc- Engorged retinal veins
What is the treatment for primary brain tumours?
- Palliative care- Chemotherapy- Radiotherapy- Surgery
What brain tumours are more common?
Secondary
What are the most common cancers that metastasise to the brain?
- Lung (non-small cell more common than small cell)- Breast- Renal cell carcinoma- Melanoma
What is depression?
Disorder causing persistent feelings of low mood, low energy and reduced interest
What is a cause of depression?
Not necessarily always a cause but often triggered by life events e.g. losing a loved one
What are 12 clinical presentations of depression?
- Low mood2. Low energy3. Anhedonia (lack of pleasure in activities)4. Anxiety/worry5. Clinginess6. Irritability7. Avoiding social situations8. Hopelessness about the future9. Poor sleep10. Poor appetitie/over eating11. Poor concentration12. Physical symptoms e.g. abdominal pain
What are 6 important things to note when taking a history for depression?
- Potential triggers2. Home environment3. Relationships with family/friends4. Bullying5. Drugs and alcohol6. History/thoughts of self-harm/suicide
What is the treatment for mild depression?
Advice about healthy habits e.g. healthy diet, exercise and avoiding alcohol/cannabis
What is the treatment for moderate to severe depression?
- Psychological therapy e.g. CBT- Fluoxetine (first line)- Sertraline and citalopram (second line)
When may admission be required in patients with depression?
If there is a risk of:- Self-harm- Suicide- Self-neglect- Immediate safeguarding issue
