Neuro Flashcards
Present spastic hemiparesis
This pt has signs of Left Hemiparesis:
Increased tone, pronator drift, pyramidal weakness, increased reflexes, clonus, upgoing plantar response.
Hemiparetic gait with flexed upper limb and extended lower limb.
Wheelchair/walking aid by bedside.
No cerebellar signs; coordination in proportion to weakness.
Left-sided sensory loss.
Left UMN facial weakness (forehead spared).
Left homonymous hemianopia or no visual defect.
No significant dysphasia/dysarthria.
If time aetiology:
Regular pulse, no carotid bruit, cardiac issues, or signs of diabetes/tar staining.
No DVT, pressure sores, catheters, NG tube.
Left hand function: good or reduced.
Spastic hemiparesis DDx
Acute:
- Anterior circulation stroke (e.g., ischemic/hemorrhagic stroke, lacunar infarct)
- Todd’s paresis
- hemiplegic migraine
- Stroke mimics (sepsis, hypoglycemia).
Relapsing-remitting: MS
Insidious/progressive = SOL:
- subdural haemorrage
- abscess = infective symptoms
- malignancy
Chronic:
- Hemiplegic cerebral palsy.
Ix for spastic hemiparesis
Level 1:
Blood Tests: FBC, U+E, LFT, CRP/PV/ESR, lipids, fasting glucose/HbA1c, clotting.
12-lead ECG: For atrial fibrillation.
CXR and urine dipstick (blood/protein).
CT Head: Immediate scan to differentiate infarct/hemorrhage and assess for tumor or complications. Early signs of ischemic stroke on CT: loss of grey-white differentiation, insular ribbon sign, etc.
Level 2:
Carotid Doppler: If anterior circulation stroke suspected.
24/48/72-hour ECG tape: For atrial fibrillation.
Echo and MRI (Diffusion Weighted Imaging): If needed for dissection, aneurysm, or posterior fossa lesions.
Level 3:
Vasculitic/thrombophilia screen: ANA, ANCA, antiphospholipid antibodies, and more.
HIV/Syphilis serology.
Bubble echo.
How could you assess speech in neurological examination?
1) Simple command = check comprehension - “close/open eyes”
2) Two-step command - “touch your right ear with your left hand”
3) Three-stage command
4) Expressive dysphasia/dysarthria - “repeat baby hippopotamus”
5) Spontaneous speech production - “tell me what you had for breakfast” - is it normally articulated
6) Anomia? Testing naming of objects and also what would you use this for
Stroke onset inside thrombolysis window?
A-E resus
Exclude hypoglycemia, check bloods, ECG, and CT head.
Hx + collateral - onset time of stroke and premorbid state.
Discuss with stroke team
<4.5hrs + no haemorrhage
- Thrombolysis with alteplase
Aspirin 300mg (after 24 hours post-thrombolysis).
Atorvastatin 80mg OD.
Regular neuro-observations and post-thrombolysis CT head at 24 hours.
IPC for VTE prophylaxis.
Rehabilitation: Physiotherapy, occupational therapy, neuropsych support.
Contraindications to thrombolysis
Ischaemic stroke within the last 3 months
Bleeding disorders: Active bleeding, recent brain haemorrhage/internal bleeding
Surgery: Recent brain/spine surgery, or major surgery within the last 3 weeks
Trauma: Recent traumatic brain injury
Hypertension: Severe uncontrolled hypertension, or a history of poorly controlled hypertension
Kidney disease: Severe kidney disease
Pregnancy: Thrombolytic drugs can cause premature separation of the placenta in the first 18 weeks of pregnancy
Anticoagulants: Current use of anticoagulants that have produced an elevated INR or PT
Stroke management if patient presents outside thrombolysis window?
A-E manner to resuscitate
Revisit Hx and identify onset/sx
Bedside tests: BM, urine dip (mimics - hypoglyc, infection), ECG (AF)
CT Brain - exclude haemorrhage
Antiplt 300mg aspirin asap after haemorrhage excluded
Bedside swallow
Once dx of stroke - mx on stroke unit, access to MDT: speech & language, PT, OT , stroke cons
Stroke secondary prevention
Lifestyle changes: stop smoking, control diabetes, hypertension, and cholesterol, exercise.
Driving advice: no driving for at least 4 weeks.
Optimise comorbidities/RF: DM, HTN, HF, obesity, HRT/oestrogen
Antiplatelet (clopidogrel 75mg)
Statin
Antihypertensives
If AF - Anticoagulation (after 2 weeks)
Causes of stroke?
Atherosclerosis in brain or carotid vessels
Blood clots = from AF/valvulopathy or clotting disorders - may travel to brain via PDA
Reduce blood flow to the brain, especially if arteries are already narrowed or diseased
Spasticity of vessels eg cocaine use
Stroke complications
Acute: Hemorrhagic transformation, aspiration pneumonia, DVT, PE, pneumonia.
Later: Depression, seizures, contractures.
Driving advice after a TIA/Stroke?
1x TIA - not drive for 1 month - no DVLA notification
Multiple TIAs - not drive for 3 months + must notify DVLA
Stroke - not drive for 1 month - may need to tell DVLA if residual neurological deficit after 1 month
Bilateral spastic paraparesis DDx via history
= lesion above level of L1
Very sudden: vascular = spinal stroke - however, unlikely to be spastic in the acute phase (Likely hypotonia due to spinal shock)
Sudden + back pain/red flag - ?compressive myelopathy:
- intervertebral disc herniation
- neoplastic (1’ or 2’ malig in spine/cord)
–> MRI whole spine <24hr
Days - Weeks:
Inflammatory: MS (transverse myelitis syndrome, or pale optic disc, relapse-remitting), SLE, sarcoid
Infection: VZV, HIV, spinal abscess
Weeks-Months:
Metabolic: vitamin b12 (SACDC), copper
Infective: HIV, travel Hx (HLTV1)
Slow-growing SOL (progressive!)
Spondylosis (extra bone/cartilage in neck)
Months-Years: Neurodegenerative - primary lateral sclerosis, Hereditary Spastic Paraparesis (if FHx)
Bilateral spastic paraparesis - how could you localise the lesion?
Upper limb + cranial nerve exam to localize the lesion.
May have sensory level.
Do they have bladder/bowel dysfunction? PR/bladder scan
LMN at level of lesion
If cervical neuropathy would have normal CN)
If optic disc pale - could be MS
Spastic Paraparesis with Sensory Level (suggests spinal cord involvement) DDx
Cord compression: Due to tumor, trauma, infection (e.g., epidural abscess, spinal TB), vascular issues (e.g., epidural hemorrhage).
Cord infarction.
Transverse myelitis: Can be caused by infection, autoimmune disease, paraneoplastic syndromes, sarcoidosis, or neuromyelitis optica (NMO).
Spastic Paraparesis with Dorsal Column Loss
Demyelination (e.g., multiple sclerosis).
Subacute combined degeneration of the cord (e.g., due to vitamin B12 deficiency, syphilis).
Syphilis.
Parasagittal meningioma.
Cervical myelopathy.
Spastic Paraparesis with Spinothalamic Loss
Syringomyelia.
Anterior spinal artery infarction.
Spastic Paraparesis with Cerebellar Signs:
Demyelination (e.g., multiple sclerosis).
Friedreich’s ataxia.
Spinocerebellar ataxia.
Arnold-Chiari malformation.
Syringomyelia.
Spastic Paraparesis with Small Hand Muscle Wasting:
Cervical myelopathy (C5-T1).
Motor neuron disease.
Syringomyelia.
Spastic Paraparesis with Upper Motor Neuron Signs in Upper Limbs:
Cervical myelopathy (above C5).
Bilateral strokes.
HSP
Spastic Paraparesis with Absent Ankle Jerk:
Motor neuron disease.
Friedreich’s ataxia.
Subacute combined degeneration of the cord.
Syphilis.
Cervical myelopathy and peripheral neuropathy.
Conus medullaris.
Spatic paraparesis Ix
MRI Brain and Spine: To identify demyelination, trauma, or cord compression.
Visual Evoked Potentials: If demyelination is suspected.
Lumbar Puncture: ?MS
Blood Tests: FBC, U+E, LFT, bone profile, CRP, HIV, syphilis, HTLV-1, serum ACE, ESR, ANA, ANCA, antiphospholipid antibodies, immunoglobulins, AQP4 antibodies (for NMO), paraneoplastic screen, serum electrophoresis, vitamin B12 (for SACD of the cord).
Nerve Conduction Studies and EMG: For motor neuron disease or peripheral neuropathy.
Management in acute spinal cord compression
EMERGENCY
Urgent neurosurgical referral for decompression
If malignancy may need steroids
+/- palliative radiotherapy
Presentation of a spinal cord stroke
any age
anterior spinal arteries –> loss of pain/temp = spinothalamic tracts
Dorsal columns (fine touch, vibration, and proprioception) spared as they are supplied by posterior spinal arteries
Brown Sequard Syndrome presentation
= hemisection of the spinal cord
–> ipsilateral loss power (corticospinal tracts decussate in brainstem and travel down) + vibration/proprioception (dorsal columns travel up and decussate at brain stem)
–> contralateral loss of pain/temp (spinothalamic cross at the level they supply and then travel up)
Differentials for dissociated sensory loss?
Brown Sequard Syndrome
Spinal cord stroke (anterior = spinothalamic, posterior = dorsal columns)
Syringomyelia
Brainstem stroke
MS
Causes of the brown-square syndrome
- MC: penetrating trauma to spine
- Asymetric disc prolapse
- Tumour of spinal cord (1’ or 2’)
- Infection (meningitis, abscess, HSV, VZV, TB)
- Partial transverse myelitis
- Vascular (ischaemic/haemorrhagic)
MS - diagnosis?
MRI Brain/Spine: Active inflammation seen as hyperintense on T2 (periventricular white matter lesions, corpus callosum, brainstem, cerebellar, spinal cord, optic nerve) - disseminated in time and space
CSF findings: Increased protein, increased lymphocytes, unmatched oligoclonal bands.
Visual evoked potentials: Reduced (slow conduction in optic nerve).
MS - Mx
MDT approach, high-dose IV steroids for acute attacks, symptom management (e.g., antispasmodics), and disease-modifying therapies (e.g., interferons, glatiramer acetate).
Genetics + features of HSP
Autosomal dominant inheritance
progressive paraplegia (mimics cervical myelopathy) WITHOUT sensory signs
PURE MOTOR
Parasagittal meningioma
RF: elderly, female, obesity, history of radiation treatment
= benign and slow-growing
Headaches, Seizures, Visual difficulties, Numbness, Weakness in arms or legs, Speech difficulty, Memory loss, and Hearing loss.
Present flaccid paraparesis
This patient has flaccid paraparesis as evidenced by:
Reduced tone bilaterally.
Wasting and weakness bilaterally.
Reduced/absent reflexes.
Mute/downgoing plantars.
The patient was (un)able to walk.
There was (no) sensory loss.
There were (no) cerebellar signs.
DDx flaccid paraparesis
(No) fasciculations → Motor neuron disease unlikely.
(No) limb shortening → Polio unlikely.
(No) sensory level → Cauda equina syndrome unlikely.
(No) pes cavus/inverted champagne bottle appearance → Charcot-Marie-Tooth disease unlikely.
(No) ptosis/ophthalmoplegia/facial weakness → Guillain-Barre Syndrome or Myasthenia Gravis unlikely.
(No) fatigability → Myasthenia Gravis unlikely.
(No) cutaneous signs (tufts of hair, dimples) → Spina Bifida unlikely.
Ix for flaccid paraparesis
Basic: BP, ECG, spirometry, ABG, CXR.
Electrophysiology: EMG and nerve conduction studies.
Blood Tests: Peripheral neuropathy screen, CK, antibodies (anti-AChR, anti-ganglioside).
Imaging: MRI for structural causes (e.g., cauda equina).
Specialised Tests: Lumbar puncture, genetic testing, nerve/muscle biopsy.
Cauda Equina findings O/E?
= Pathology below the level of L1
Normal upper limb/CN
Catheter = bladder dysfunction
Saddle anaesthesia, poor anal tone
Bilateral/Unilateral LMN signs in lower limbs: reduced power, reflex, sensation
+/- lower back pain
due to acute herniation of a lumbar disc –> cauda equina compression
Mx: emergency decompression
Causes of cauda equina
-degenerative
-traumatic
-neoplastic (mets/1’/lymphoma)
-abscess
-iatrogenic - spinal anaesthesia
-inflammatory - ank spond, sarcoid
- vascular - IVC thrombosis, epidural haematoma
Wasting of the small muscles of the hand (dorsal interossei, thenar/hypothenar eminence) DDx
- C8/T1 lesion (finger + thumb abduction affected)
- Brachial plexus lesion (eg malignant infiltration - check for LN, Horners, lungs auscultation)
- MND (fasciculations)
- Poliomyelitis
- Syringomyelia
- Peripheral neuropathy
- Myotonic dystrophy (?ptosis)
- RA
Finger extension tests?
C7/radial nerve
Finger abduction tests?
T1/ulnar nerve
Thumb abduction at right angle to palm tests?
T1/median never
Poliomyelitis signs?
Asymmetric limb development / wasting
Walking aids/wheelchairs/callipers
LMN signs in affected limb (flaccid paralysis)
NO sensory loss PURE MOTOR
DDx: radiculopathy, plexopathy, MND
Post-polio syndrome = symptoms worsen after many years due to degeneration/viral reactivation
Poliomyelitis pathogenesis
Caused by RNA virus spread by faecal/oral route: 1% cases virus enters nervous system –> inflammation + death of anterior horn cells in spinal cord/brain stem
Acutely: Paralysis worsens over 4 days + fever + muscle pains. New cases rare due to vaccine.
Peripheral neuropathy more proximal > distal DDx
CIDP
B12
Thyroid
Cushing
Peripheral neuropathy more distal > proximal DDx
DM
Alcohol
GBS
CMT
Peripheral neuropathy more asymmetric causes
Infections: Lyme, HIV
Compression: Radiculopathy
Paraneoplastic: L.Eton
Peripheral neuropathy Ix
Level 1 (Basic):
- Bloods: FBC, U+E, LFT, TFT, ESR, CRP, B12, folate, HbA1c, bone profile.
- Urine dipstick for diabetes/systemic diseases.
Level 2 (Specialized):
- Autoimmune/Inflammatory: ANA, ANCA, RF, complement levels.
- Protein Studies: Immunoglobulins, serum electrophoresis, Bence Jones proteins.
- Infectious: HIV, syphilis, Lyme, hepatitis.
- Others: Serum ACE, paraneoplastic antibodies, coeliac screen, CXR.
Level 3 (Advanced):
- CSF Analysis: For oligoclonal bands, protein.
- Imaging: MRI spine.
- Biopsy: Nerve/muscle biopsy.
- Cancer Screen: Mammogram, CT, skeletal survey.
- Genetic Testing: For hereditary causes.
Drug causes of neuropathy
Antibiotics: Isoniazid, metronidazole, nitrofurantoin.
Anticancer: Vincristine, cisplatin, oxaliplatin.
Antiepileptics: Phenytoin.
Immunosuppressants: Gold, ciclosporin.
Others: Amiodarone, hydralazine, antiretrovirals.
GBS
Ascending weakness, areflexia, autonomic/respiratory involvement.
Investigations: CSF (albuminocytological dissociation), NCS.
Management: IVIG, plasma exchange.
Type 1A Charcot-Marie-Tooth (CMT) Disease signs?
- Reverse champagne bottle legs
- Foot deformities: pes cavus, clawing of toes, hammer toes
- Charcot joints?
- Wasting of small muscles of the hand
- Tremor?
Distal weakness/reduced tone
Absent reflexes throughout
SENSATION LOST distally in all modalities (may have assoc ulceration)
High stepping gait (bilateral foot drop)
Difference between CMT type 1 and type 2?
Both inherited sensorimotor neuropathies - present before 20yo - gradual progressive course
Type 1 = demyelinating
Type 2 = axonal
Type 1a = autosomal dominent mutation in PMP22 gene on Chr. 17
Type 1b = autosomal recessive form
Diagnosis + Mx of CMT
Genetic testing = diagnostic [offer genetic counselling]
NCS to differentiate between 1 and 2
CSF protein: normal/sl high
Mx: supportive + AVOID neurotoxic drugs
DDx CMT
Any peripheral sensorimotor neuropathy:
-CIDP
-DM
-Alcohol
-Paraneoplastic disease
Radial Nerve (formed from C6-C8 nerve root) palsy compression location + Sx:
At axilla (crutches/malignancy)
Spiral groove if anesthetized
Humeral fracture
Forearm
Proximal: weak elbow extension
Distal ==> wrist drop + reduced finger extension
sparing of finger abduction/thumb abduction
Loss of sensation over anatomical snuff box
If proximal/c7 lesion may have absent tricep reflex
DDx Radial nerve lesion
C7 nerve root lesion
MND
Polio
Brachial plexus lesion
Mild stroke
Signs of ulnar nerve palsy
Wasting of dorsal interossei + hypothenar eminence (if chronic)
Ulnar claw (little finger/ring flexed)
Weakness small muscles of hand NOT LOAF
Weak finger abduction
Poor grip / pinch strength
Loss of sensation over medial aspect of hand
Test thumb abduction - spared in isolated ulnar but weak in C8/T1 nerve root lesion
Cause of ulnar nerve palsy
Entrapment at the elbow
- elderly people who sit with elbows on arms of chairs
- elbow fracture
Or damage at wrist (forearm muscle and sensation spared)
DDx ulnar nerve palsy
C8/T1 nerve root lesion
brachial plexus lesion
mnd
polio
syringomeilia
peripheral neuropathy
RA
Signs of median nerve palsy
?RA, OA, scars
Thenar eminence wasting
Sign of benediction (index/middle finger fixed in extension)
Weakness of LOAF:
- Thumb weakness
- Weak flexion of terminal IPJ
Loss of sensation over thumb/index/radial palm
Causes of median nerve palsy
capal tunnel syndrome
trauma (wrist)
surgical
mononeuritis multiplex
infection (leprosy)
inflammation (CIDP)
Causes of capal tunnel syndrome
Idiopathic
pregnancy
COCP
obesity
trauma
myxoedema
acromegaly
RA
DM
tophaceous gout
amyloidosis
Ix for isolated mononeuropathy
Bloods, glucose, ESR
Radial - forearm XR ?#
NCS
Foot drop causes
Think anterior horn cell—nerve root—plexus—peripheral nerve—NMJ—muscle
Muscle (weak anterior tibialis): any cause of myopathy
Nerve (common peroneal nerve palsy): mono/polyneuropathy eg. trauma to fibular head, surgery on leg, compression of fibula neck by cast/tourniquet/leg crossing/bandaging, mononeuritis multiplex of any cause
Sciatic nerve palsy eg. trauma, IM injection
Lumbosacral plexopathy eg. trauma, tumour
L5 root lesion eg. prolapsed disc
Anterior horn cell eg. motor neuron disease (NB: no sensory deficit)
Spinal cord or brain lesion (stroke, space-occupying lesion, demyelination)- causing bilateral foot drop
Common peroneal nerve palsy
vs
Sciatic nerve lesion
vs
L5 lesion
CPN: inversion is intact, ankle reflex is intact. Deep branch only: preserved eversion and sensory loss only in webspace between 1st and 2nd toes and not lateral lower leg or foot dorsum
Sciatic: weak knee flexion, lose ankle jerk, lose plantarflexion of foot as well as dorsiflexion, eversion, inversion, there is more widespread sensory loss
L5: lose inversion as well as eversion and dorsiflexion, lose sensation on sole of foot as well as anterolateral shin and foot dorsum, cannot straight leg raise, ankle jerk preserved
Ix for foot drop
Bloods to screen for causes of neuropathy/mononeuritis multiplex eg. autoimmune, infectious, inflammatory, endocrine causes eg. diabetes
Urine dipstick for blood and protein
EMG and Nerve conduction studies
Xray fibula
MRI spine and sacrum
Mx for foot drop
Conservative: splint/calliper, avoid squatting/leg crossing, physio, OT, DVLA considerations
Medical: analgesia, treat the underlying cause
Surgical: repair fracture/severed nerve
Flaccid weakness with normal reflex/sensation
NMJ + Myopathy
DDx for proximal weakness/myopathy
NMJ: MG, Lambert -eaton
Inherited muscular dystrophies
Rheum: polymyositis/dermatomyositis, SLE, sarcoid, Inclusion body myositis
Endo: thyroid disease, Addison’s, Cushing’s, CKD, Hypokalaemic period paralysis
Infective: HIV, Lyme, hepatitis, EBV
Toxins: alcohol, statins
Ix for proximal myopathy
Routine bloods - FBC, U+E, LFT, Ca, P, Mg
CK, TFTs, vitamin D, HBa1C, cortisol, HIV, Hepatitis screen, CMV/EBV/adenovirus, serum ACE
Rheumatological: ESR (normal/increased), ANA (50-80%), ANCA, RF, anti-CCP, ‘myositis blot’ (myositis antibodies eg, anti-Ro/anti-Jo), Ig, complement
Urine dip and urine PCR
Nerve conduction studies + EMG - myopathic changes
MRI muscle - inflamed muscle
Muscle biopsy - inflamed
Cancer screen if dermato/polymyositis: FOB, CXR, mammogram, CT, tumour markers (PSA, CEA, CA125, CA19-9, CA15-3)
Systemic assessment: ECG, CXR, Echo, lung function tests, HRCT, OGD/colonoscopy/barium swallow
Myasthenia Gravis pathophysiology + epidemiology?
Autoimmune disease = antibodies bind to acetylcholine receptor - which blocks acetylcholine
Bimodal distribution (15-30yo or 60-75yo)
MG Sx?
- Unilateral/Bilateral ptosis (if so check pupils DDx Horners) - fatiguable?
- Opthalmoplegia - which direction?
- Diplopia: worse at extremes of gaze
- Facial weakness
- Neck weakness
- Dysarthria
- Dysphagia
- Fatiguable weakness - proximal
- Resp muscle involvement - can be fatal
DDx MG presentations
Unilateral ptosis + complex opthalmoplegia: partial III nerve palsy
Bilateral ptosis: myotonic dystrophy
Bilateral facial weakness: GBS, muscular dystrophy
Proximal muscle weakness: myopathy, muscular dystrophy
Dysarthria: MND
Ix for MG
Serum antibodies:
- MC: cholinesterase receptor antibodies
- MuSK antibodies
**EMG - diagnostic if shows fatiguable responses ***
CT Thorax - associated thymoma (10-15%)
Tensilon / edrophonium test - IV edrophonium improved weakness (but cardiac side effects)
Treatment MG:
Mild disease: pyridostigmine (acetylcholinesterase inhibitor) = less fatiguability
Generalised:
- steroids acutely (MUST introduce gradually in hospital as initially worsens sx)
- steroid-sparing (azathioprine, mycophenolate)
Life threatening:
- IV Ig + PLEX
If thymoma - resection
Myotonic dystrophy signs
Bilateral partial ptosis
Slack, open mouth due to jaw weakness
Frontal balding
Expressionless face
Distal muscle wasting
?? cardiac pacemaker
Cataracts
Facial weakness/Dysarthria from weak muscles
Distal muscle weakness (foot drop/hand weakness)
Myotonia + percussion myotonia (tap on thenar eminence)
Reduced reflex
Normal sensation
Associated conditions/features of myotonic dystrophy
Cataracts
Cardiac conduction abnormalities
Cardiomyopathy
Testicular atrophy
Endocrine (T2DM)
Learning difficulties
Hypersomnolence
Genetics of myotonic dystrophy:
Myotonic dystrophy type 1:
- autosomal dominent inheritence
- unstable trinucleotide CGT repeat on chromosome 19: myotonic protein kinase gene
anticipation
Myotonic dystrophy type 2:
- an autosomal dominant inherited condition
- NO facial weakness
- PROXIMAL rather than distal
MILDER
Duchenne Muscular dystrophy
Becker’s muscular dystrophy
X-Linked genetic
Calf pseudohypertrophy
PC in childhood
Beckers = laster
Limb girdle muscular dystrophy
PC in adulthood - mild proximal weakness
Facioscapulohumeral muscular dystrophy
weak face
asymmetrical proximal weakness
winging of scapula
Polymyositis/ Dermatomyositis signs & associations
= diagnosis of exclusion
Proximal weakness
Muscle tenderness
NORMAL extraocular movements
Facial weakness
Normal sensation
Assoc: AI conditions, CTD, statins, HIV, acute viral illness
Skin: heliotrope rash, Gottrons papules - assoc: GI/breat cancer
Dx + Mx polymyositis
CK - elevated
EMG
Dx = muscle biopsy
CTD/HIV/AI/Drugs
Mx: steroids or azathioprine/MTX
Mixed UMN/LMN signs:
- MND (wasting, fasciculations, no sensory signs)
- SCDC (sensory > motor + sensory ataxia - brisk knee jerk, absent ankles)
- Tabes Dorsalis (sensory > motor + sensory ataxia - brisk knee jerk, absent ankles + Argyll Robertson Pupil)
- Friedreich’s Ataxia (Pes cavus, kyphoscoliosis, dysarthia, reduced reflex, ataxia, loss of vibration/proprioception)
- Syringomyelia = cape-like distribution of sensory loss
- Duel pathology: DM with conicidental cord compression
MND Sx
Walking aids/wheelchair
Wasting/faciculations
PEG tube
Dysarthria - lip/tongue/palette weak
Facial weakness
Tongue fasciluations
Mix UMN/LMN signs
MND presentation
Pt has findings Supporting MND
Mixed UMN/LMN and no sensory
Wasting and fasciculations.
Increased tone, pyramidal weakness, hyperreflexia, upgoing plantars, clonus.
Absent ankle reflexes.
Hyperreflexic jaw jerk.
Dysarthric speech.
Normal Findings:
Sensation preserved.
Coordination proportional to weakness.
Eye movements normal.
To Complete Examination:
Perform full upper limb and cranial nerve examination.
Assess speech and swallow.
MND 4x phenotypes
1) ALS: amyotrphic lateral sclerosis = MC = UMN/LMN
2) Bulbar: preserved limb function, poor bulbar function + poor prognosis due to early resp involvement
3) Progressive muscular atrophy: pure LMN
4) Primary lateral sclerosis: pure UMN
MND Ix
MRI spine (rule out myelopathy/radiculopathy)
Nerve conduction studies (to exclude multifocal motor neuropathy> demyelinating features and a conduction block).
EMG: Look for denervation, fasciculations, and fibrillations = DIAGNOSTIC
Respiratory: Oxygen saturation, ABG, spirometry.
CSF Analysis: Lumbar puncture (if demyelination suspected).
Blood Tests: Paraneoplastic screen, syphilis serology, B12 levels.
MND Mx
Supportive: doctor /nurse /SALT /PT / OT/ dietician/ palliative care
Riluzole slows disease progression by 3 months
Symptomatic: Anticholinergics, baclofen (spasticity), antidepressants.
Gastrostomy if unable to swallow
NIV (esp at night if resp weakness)
Syringomyelia signs
Horners syndrome
Anterior horn compression:
- Wasting of small muscle of hands/ulnar border
- Reduced power UL distal >proximal
LMN in upper limb + UMN lower limbs
Crossing spinothalamic tracts = Cape like sensory distribution with loss of pain + temp sensation (burns/ulcers), but sparing of vibration/proprioception
Additional syringobulbar signs
= syrinx spreads into brainstem
- Ataxia
- Nystagmus
- Bulbar palsy
- Dissociated sensory loss over face
Causes of a syrinx
- Congenital
- Blockage of CSF flw
- Basal arachnoiditis (post-infection, inflammatory, radiation, SAH)
- Abnormal growth (arachnoid cysts, intramedullary tumours)
- Trauma
SCDC Sx
Anaemia?
B12 def: lemon tinge, glossitis
Splenomegaly
Autoimmune disease eg vitiligo (pernicious anaemia)
Loss of vibration/proprioception
Sensory/gait ataxia - Romberg +ve
Brisk knee jerk, absent ankle jerk
Down-going plantars
Normal tone/power/muscle mass
Tabes Dorsalis Sx = tertiary syphyllis ~25 yrs post-infection
= degeneration of dorsal columns + atrophy of posterior nerve root
Argyll Robertson pupil
Bilateral ptosis
Complex opthalmoplegia
Loss of vibration/proprioception
Deep pain loss
Sensory/gait ataxia - Romberg +ve
Brisk knee jerk, absent ankle jerk
Down-going plantars
Increased tone
Neuropathic pain
Other neurological manifestations of syphillis
Aspetic menigitis (secondary syphilis)
Syphilitic mengitits (tertiary)
Tabes dorsalis
Strokes/aneurysms
SNHL
Optic neuritis
Ix for mixed UMN/LMN
FBC (megaloblastic anaemia)
B12, folate
VDRL - ? syphyllis
Schillings test (pernicious anaemia)
MR spine to rule out compression
Friedreichs ataxia presentation
This patient has features consistent with Friedreich’s Ataxia as evidenced by:
Spastic Paraparesis + areflexia:
Increased tone, pyramidal weakness, upgoing plantars, clonus.
Absent Reflexes: Absent ankle (and possibly knee) reflexes.
Cerebellar Signs: Past pointing, intention tremor, dysdiadochokinesis, rebound, heel-shin ataxia, dysarthria, nystagmus.
Dorsal Column Signs: Loss of vibration and joint position sense, positive Romberg’s.
Other Findings: Pes cavus, kyphoscoliosis, hearing aid, pacemaker, diabetic fingerprick marks.
The combination of spinocerebellar, corticospinal tract, and dorsal column signs strongly suggests Friedreich’s Ataxia.”
Friedreichs ataxia signs
Pes Cavus
Kyphoscoliosis
High arched palate
Distal muscle wasting
Dysarthria (later feature)
Abnormal eye movements (nystagmus)
Reduced reflexes LL>UL
Extensor plantar
Loss of vibration/proprioception
ATAXIA - both sensory + CEREBELLAR (past-pointing, dysdiadochokinesis, heel-shin, truncal ataxia)
Assoc: hypertrophic CM - displaced apex beat, HF
+/- SNHL, DM, optic atrophy
Friedreichs ataxia genetics
autosomal recessive inherited disorder
MC progressive AR ataxia in caucasions (many other rare genetic ataxia)
= Frataxin gene (GAA repeat) - chromosome 9q13-21
PC <25yo mostly (larger expansions = earlier onset / severity)
Friedreichs ataxia Ix + Mx
MRI brain/spine = atrophy of cerebellar vermis + atrophy of spinal cord
Genetic testing = Dx
Monitor heart complications woth ECG/echo
Mx MDT: neuro/cardio/nurse, OT/PT
Bilateral cerebellar syndrome presentation
Ataxic wide-based gait.
Inability to walk heel-to-toe.
Negative Romberg’s test but increased instability with feet together.
Dysdiadochokinesis, past pointing, intention tremor, rebound phenomenon.
Heel-shin ataxia.
Nystagmus.
Ataxic dysarthria.
Tone: Reduced.
Reflexes: Pendular.
Sensation: Normal (unless other systems are involved).
Unilateral cerebellar syndrome presentation
Ataxic wide-based gait veering to the affected side.
Unilateral dysdiadochokinesis, past pointing, intention tremor.
Gaze-evoked nystagmus on ipsilateral gaze.
Heel-shin ataxia on the affected side.
Cerebellar syndrome clues O/E for aetiology
Demyelinating disease: INO, RAPD, sensory disturbance.
Paraneoplastic cause: Cachexia, clubbing, tar staining.
Stroke/space-occupying lesion: Visual field defects, unilateral weakness.
Cerebellopontine angle lesion: CN V, VII, VIII involvement.
Alcoholism: Dupuytren’s contracture, stigmata of liver disease.
Friedreich’s ataxia: Pes cavus.
Drugs (e.g., phenytoin): Gum hypertrophy.
Bilateral cerebellar syndrome DDx
Most Likely Causes:
Demyelination (Multiple Sclerosis).
Paraneoplastic syndromes.
Bilateral posterior circulation strokes/space-occupying lesions.
Other Causes:
Multiple system atrophy.
Drugs (phenytoin, carbamazepine, lithium).
Alcohol, hypothyroidism, Wilson’s disease, coeliac, B12 deficiency.
Infective (HIV, syphilis, toxoplasmosis, Lyme).
Inflammatory (Miller Fisher syndrome).
Hereditary (Friedreich’s ataxia, spinocerebellar ataxias).
Unilateral cerebellar syndrome DDx
Most Likely Causes:
Demyelination (MS).
Posterior circulation infarction/stroke.
SOL
Other Causes:
Cerebellopontine angle lesions (e.g., neurofibromatosis).
Lateral medullary syndrome.
Ataxic hemiparesis post-lacunar stroke.
Cerebellar Ix
MRI Brain and Spinal Cord: Evaluate demyelination, strokes, or lesions.
Blood Tests:
TFT, copper studies, paraneoplastic screen (anti-neuronal antibodies)
Coeliac, B12, drug levels (phenytoin, carbamazepine, lithium).
Lumbar Puncture: Oligoclonal bands for MS.
Electrophysiology: EMG and nerve conduction studies.
Genetic Testing: For hereditary ataxias.
Cerebellar Mx
Treat the underlying cause:
MS: High-dose steroids, disease-modifying therapy.
Alcohol/toxins: Abstinence and supportive care.
Tumour/infarct: Surgical or medical intervention.
Multidisciplinary approach for chronic conditions.
Lateral medullar syndrome (Wallenberg syndrome) findings
PICA stroke = lateral medulla infarct (Ix as stroke)
Ipsilateral Horners
Ipsilateral cerebellar signs:
- broad-based ataxic gait
- coarse nystagmus TOWARDS lesion
Dysphagia, palate paralysis
Ipsilateral trigeminal pain/temp loss
Contralateral trunk/limb pain/temp loss
Cerebellopontine Angle Syndrome features
= SOL/compression of CPA
If large SOL ?papilloedema
Normal eye movements (but gaze nystagmus = cerebellar)
Unilateral V CN - ipsilateral trigeminal sensory loss
Unilateral LMN VII - facial nerve palsy - facial asymmetry/weakness
+/- CN VIII = SNHL (air conduction better than bone, lateralises away from lesion on Webers)
Ipsilateral cerebellar - mc if large SOL:
- nystagmus towards lesion
- dysdiadochokinesis
Cerebellopontine Angle Syndrome causes + Dx
- acoustic neuroma/schwanoma (MC) [bilateral = NF type 2]
- schwannomas of trigeminal/facial nerve
- meningioma
- brain mets
- epidermoid cyst
Ix: MRI with view of CP angle
PD
