Pastest - Neuro Flashcards

Question

What is the management of Parkinson's disease?

Answer 1

OT, PT, SALT and dietician services National support groups Inform DVLA and insurance at diagnosis Dopamine agonists -Pramipexole, ropinirole, cabergoline -Can be used in younger patients who are more susceptible to dyskinesias -SEs include nausea, constipation, hypotension, drowsiness, confusion and hallucinations MAO-B inhibitors (rasagiline) -Can be used as monotherapy early in disease (not selegiline) -SEs constipation, depression and hallucinations Levodopa -preferred in older adults who are more likely to have orthostasis or hallucinations with dopamine agonists -SEs N+V, arrhythmias, postural hypotension, depression, insomnia, psychosis, cognitive impairment Anticholinergics (benzhexol, benzatropine, pro-cyclidine) -Can be used in refractory tremor but can worsen cognitive function COMT inhibitors -Avoid in hepatic impairment or ischaemic heart disease -SEs confusion, dizziness, insomnia, hallucinations, dyskesias Apomorphine (injectable form of dopamine) -Can be useful in mornings for freezing or dysphagia in advanced PD or when oral cannot be taken Amantadine -Improves dyskinesias associated with increasing levodopa -SEs GI upset, mood changes, postural instability, confusion, hallucinations DBS Non-motor symptoms -Nausea from drugs (domperidone), constipation, dementia, Depression Palliative care

Answer 2

General appearance -Wheelchair, walking aids or foot supports for foot drop -Wasting and contractures are characteristics of severe disease -FASCICULATIONS Cranial nerve examination -Wasting of temporalis and masseters may be present -Oculomotor muscles are spared! -Bulbar palsy (LMN IX, X, XI, XII) -Slurred, quiet, nasal speech -Pseudobulbar palsy Upper and lower limbs -LMN signs and UMN signs -No sensory signs Mention you would like to assess -Respiratory function with examination and FVC both standing and supine -Formal SALT and swallow assessment -MMSE

Answer 3

Weakness of the muscles of mastication Absent jaw reflex Upper and lower facial muscle weakness Palatal weakness Reduced gag reflex Flaccid and wasted tongue with fasciculation Weak sternocleidomastoid and trapezius

Answer 4

Emotional lability, with spontaneous laughing or crying Pronounced gag reflex Small stiff tongue that is difficult to protrude and has slowed rotational or sideways movements Brisk jaw reflex Speech is slow, thick and indistinct, and due to the tongue moving little (sometimes described as 'hot potato speech'

Answer 5

Amyotrophic lateral sclerosis (most common) -UMN and LMN signs Primary lateral sclerosis -Initially UMN signs but eventually progresses to include LMN Progressive muscular atrophy -Initially LLMN but progresses to UMN Progressive bulbar palsy -LMN (bulbar) or IMN (pseudobulbar) signs involving bulbar muscles

Answer 6

Cervical spondylosis with myelopathy and radiculopathy -UMN and LMN (only UMN below lesion) -No bulbar, cranial nerve involvement -Usually sensory signs and symptoms of pain Dual pathology (e.g. cervical myelopathy with peripheral neuropathy) Syringomyelia/ syringobulbia -At level of lesion UMN and dissociated sensory loss -Below level LMN signs -Dissociated sensory loss results from decussating spinothalamic pathways (loss of temp and pain) but preserve dorsal columns (normal pressure, proprioception and vibration) Multifocal motor neuropathy with conduction block Benign cramp fasciculation syndrome -This presents only with cramps and fasciculations, usually of large limb muscles, made worse after exercise or sleep deprivation. -There are no other LMN or any UMN signs and no disease progression Inclusion body myositis Monomelic amyotrophy (benign focal amyotrophy) Chronic inflammatory demyelinating polyneuropathy (CIDP) Spinal muscular atrophy Myasthenia gravis Post poliomyelitis syndrome.

Answer 7

Rare disease usually presenting in young or middle aged men and its onset and progression are slower than that of MND. It is an acquired autoimmune demyelinating disease that is progressive and gives rise to LMN signs, such as weakness, wasting anf fasciculations, with little or no sensory involvement. Clinically it can be difficult to distinguish from MND in the initial stages, except that there are until much later. Nerve conduction studies can show multiple sites of conduction block and CSF analysis might be positive for anti-GM1 ganglioside antibody. The patients condition may improve with IVIG.

Answer 8

Inflammatory myopathy that presents with slowly progressive weakness and wasting in distal and proximal muscle groups in the limbs without sensory symptoms . There are no UMN signs. It tends to affect older age groups Diagnosis is by electromyography and muscle biopsy. It tends to have a more benign course than MND.

Answer 9

This is a focal LMN disease characterised by weakness and wasting of a single limb, usually a hand or arm rather than foot or leg. There will be no UMN or sensory signs. Typically it affects young Asiatic males (aged 15-25 years), most commonly in India or Japan. It plateaus after 2-5 years with no improvement or progression. There is no treatment beyond physiotherapy

Answer 10

Riluzole (only DMARD) -Prolongs life by 3-4 months and should be offered to all patients at diagnosis PT, dietician, respiratory therapist, SALT, OT, social work and primary care team Respiratory -PT, suction, NIV Pharyngeal and GI -Dietician, PEG feeding, anticholinergics MSK -PT and OT, baclofen, quinine for cramps Psychological: -CBT, SSRI

Answer 11

MND progresses without relapses, remission or any stabilisation. The clinical time course varies with a median life expectancy of 3-5 years. Of patients 10% may survive >10 years Good prognostic indicators include: younger age at onset, onset of disease in limbs and FVC >75% at baseline Poor prognostic factors include older age at onset, bulbar symptoms at onset, co-morbidity, frontotemporal dementia and FVC <75% at baseline.

Answer 12

Pronator drift

Answer 13

TIA Demyelinating conditions such as MS Space occupying lesions Post-ictal hemiparesis -Commonly 1 limb rather than 1 side -Can be gaze palsy towards hemiparesis rather than stroke which is usually away from side of paresis Complex migraine Somatisation/ conversion disorders

Answer 14

Pyramidal pattern of weakness in the lower limbs and a sensory level representing spinal cord pathology. Full diagnosis involves examination of the cranial nerves and upper limbs to help describe the pattern and level of pathology (the instruction is usually to examine gait and/or lower limbs)

Answer 15

Can be broadly divided into compressive and non-compressive. Further dichotomy can include whether onset was (sub-)acute or chronic. (patients with compressive lesions will mostly be spared signs above the level of the lesion. Compressive disease: -Trauma, Tumours, TB or other abscesses Non-compressive disease -MS, MND, Parasagittal tumour (meningiomas), -Hereditary spastic paraparesis (Strumpell-Lorrain syndrome) -Friedreich's ataxia -Syringomyelia -Transverse myelitis -Vascular (spinal stroke) -Subacute combined degeneration of the cord

Answer 16

Usually dominantly inherited (X-linked and recessive forms also exist), and leadds to progressive stiffness and UMN weakness of the lower limbs from axonal degeneration. It can be associated with other neurological features such as cerebellar signs, peripheral neuropathy, epilepsy and cognitive changes. It may be associated with cataracts and optic neuropathy. Diagnosis is usually from typical presentation with a family history and after genetic testing. There are no sensory signs and upper limbs tend not to be involved

Answer 17

MS (most common), SLE, sarcoid, paraneoplastic syndromes, antecedent viral infection including HSV, VZV, HIV, HTLV-1 (tropical spastic paraparesis), CMV and EBV, or antecedent bacterial infection including syphilis and lyme borreliosis

Answer 18

Acute onset must focus on ruling out remediable spinal cord compression as sphincter dysfunction is irreversible if present for >24hrs. Acute: FBC, ESR, chest radiograph, MRI spine non-acute -Blood tests: ESR/CRP, autoantibody screening, B12 and folate -Infection screen: serological testing for HIV, HTLV-1 and syphilis; blood culture, sputum culture, early morning urine -Lumbar puncture with CSF analysis: oligoclonal bands, bacterial culture, ACE and cell count -MRI of CNS -Biopsy of identified cord masses -EMG and NCS

Answer 19

Mixture of LMN and UMN signs in upper limbs most commonly C5-7 where spinal canal is narrowest Midcervical reflex pattern Inverted reflexes -contraction of triceps with bicep reflex testing and finger flexion with supinator testing sensory loss in dermatomal pattern Pseudoathetosis -damage to the cervical dorsal columns causes loss of proprioception, so with eyes closed and arms held out the fingers writhe unconsciously Hoffman's reflex Myelopathy hand sign

Answer 20

Describes the loss of biceps and supinator reflexes (C5-C6) and a brisk triceps reflex (C7) and is almost pathognomonic of a cord lesion due to pathology at C5-C6. e.g. cervical myelopathy

Answer 21

Has two components -Finger escape sign: with the patient holding the forearms out and hands pronated, the little finger can be seen to abduct ('escape') and there may be difficulty with full finger extension. This phenomenon can spread to the ring and middle fingers with more severe cervical lesions. The little finger can abduct and flex normally, differentiating this from an ulnar nerve lesion -Grip and release testing; the patient remains in the same position as above and is asked to grip and then fully extend the hand and fingers as fast as possible for 10 seconds. There is a slowed response with difficulty in fully extending fingers on release with fewer than the 20 repetitions seen in healthy individuals.

Answer 22

MND MS Friedreich's ataxia Syringomyelia Subacute combined degeneration of the cord Transverse myelitis

Answer 23

Characterised by LMN signs in the upper limbs (and more rarely bulbar muscles) with dissociated sensory loss affecting pain and temperature, but preserving vibration, proprioception and light touch in the upper limbs. This is occasionally associated with autonomic signs including Horner's syndrome and/or long-tract signs in the lower limbs with UMN weakness. Cranial nerve nuclei IX-XII (syringobulbia) gives signs of palatal weakness, reduced gag reflex, and a hoarse and nasal voice with weak, wasted and fasiculating tongue. Bilateral weakness of sternocleidomastoid and trapezius also observed Balaclava/ Onion skin sensory loss in face which slowly progresses inwards Nystagmus. INO. Horner's syndrome

Answer 24

CSF blockage (most common >50%) -Arnold-Chiari malformation, other hindbrain malformations, spina bifida, tumours near foramen magnum, scarring of meninges or meningeal carcinomatosis Spinal cord injury -traumatic, haemorrhage, infection, infarction Intramedullary tumours -Most commonly associated are ependymomas and haemangioblastomas Idiopathic Other differentials: -CIDP -Peripheral neuropathy -Amyotrophic lateral sclerosis (MND) -MS -Cervical spondylosis -Anterior spinal artery syndrome

Answer 25

General appearance -Myopathic facies (long, thin face and neck) -Bilateral ptosis and cataracts -Frontal balding -Myotonia on shaking patients hand Gait -Bilateral foot drop with high steppage gait -As disease progresses waddling gait -Romberg's negative Upper and lower limb examination -Tone is normal -Symmetrical distal wasting and weakness (advances proximally) -Wasting of the small muscles of the hands -Myotonia -Deep tendon reflexes will be reduced -Coordination will be normal -No sensory impairment Cranial nerve examination -Patient may have difficulty opening eyes after tight closure -Red reflex will demonstrate cataracts -Nasal quality to speech Additional -To end exam state you would like to test blood glucose, perform cardiovascular examination (arrhythmia/ pacemaker), thyroid nodules, genital exam (testicular atrophy), MMSE

Answer 26

Can be demonstrated by tapping on the thenar eminence, which will cause dimpling and adduction of the thumb with slow relaxation. Alternatively you could ask the patient to grip you hand tightly for 5 seconds and let go quickly, and there will be delayed release. On repeating the hand-grip exercise several times the myotonia phenomenon can reduce, described as the 'warm up' effect (contrast this with the fatigability seen in myasthenia gravis). The phenomenon of myotonia can disappear with disease progression as muscle weakness increases.

Answer 27

Myotonia congenita Paramyotonia (PM/Eulenberg's disease) Hyperkalaemic periodic paralysis (HPP) Mild tetanus Stiff person syndrome

Answer 28

This is a chloride ion channelopathy affecting skeletal muscle. Thomsen's disease (autosomal dominant) presents in the first few years of life with non-progressive muscle stiffness and hypertrophy. Becker's disease (autosomal recessive) presents a bit later but with more severe stiffness.

Answer 29

Sodium channelopathy (autosomal dominant). This presents in the first decade of life with paradoxical myotonia that is worse after exercise and triggered by cold.

Answer 30

Sodium channelopathy (autosomal dominant) affecting the same sodium channel gene (SCN4A) as PM, but thought to be clinically distinct. It is characterised by transient but frequent episodes of paralysis starting in infancy, associated with raised serum potassium and triggered by fasting or rest after exercise.

Answer 31

Caused by neurotoxin from Gram-positive Clostridium tetani. Local or mild tetanus can occur in the area local to the initial injury causing spasms and stiffness, although severe generalised tetanus is the most common presentation.

Answer 32

Rare syndrome of unknoen cause associated with autoimmune anti-GAD (anti-glutamic acid decarboxylase) antibodies and diabetes. The syndrome can occur at any age and in both sexes. It starts as axial muscle spasms and progresses to generalised proximal stiffness that can cause skeletal fracture and muscle rupture. It is either self limiting or progressive.

Answer 33

Distal spinal muscular atrophy -Variant of SMA, presenting similarly to Charcot-Marie Tooth disease Peripheral neuropathies -Tend to cause wasting, and include sensory signs, reduced reflexes and distal-proximal progression Neuromuscular junction pathology -Manifests as diffuse weakness in the absence of wasting, sensory signs or abnormal reflexes. There is fatigability, and ocular, bulbar and respiratory muscles are involved. Diseases include myasthenia gravis and Lambert-Eaton myasthenic syndrome. Myopathies -Manifest as wasting with no sensory signs, normal or reduced reflexes and no fatigability. The myotonic phenomenon may occur in a proximal pattern.

Answer 34

Myopathies can be inherited or acquired. Inherited: -Muscular dystrophies --Duchene, becker, scapuloperoneal (Emery-Dreifuss), distal, facioscapulohumeral, limb girdle, oculopharyngeal -Congenital myopathy --Nemaline, myotubular, central core and hyaline body myopathy -Mitochondrial myopathies --Kearns-Sayre syndrome -Metabolic myopathies --Glycogen storage diseases (e.g. McArdle's disease), Lipid storage disease and disorders or purine nucleotide metabolism. Acquired -Drug induced --Corticosteroids, fibrates, statins, colchicine, D-penicillamine, zidovudine, B-blockers, ciclosporin -Toxins: alcohol, organophosphates, snake venom -Endocrine --Diabetes, hypo-/hyperthyroidism, Cushing syndrome, hypo-hyperparathyroidism, pituitary disfunction -Inflammatory --Polymyositis, dermatomyositis, inclusion body myositis

Answer 35

Focus on confirming diagnosis, classifying type and identifying multisystem involvement Genetic testing Other tests -Blood testes: GGT and CK raised, IgG, FSH (raised), testosterone (low/normal), fasting glucose, HbA1c -EMG: myotonic discharges -ECG: conduction defects or arrhythmias -ECHO: cardiomyopathy -Genetic testing -Muscle biopsy: infrequently used in diagnosis now

Answer 36

-MD Type 1: autosomal dominant mutation DMPK (dystrophia myotonica protein kinase) chromosome 19. CTG repeat above upper limit 35 --Congenital MD >2000 repeats, presents at birth, life expectancy 30-40 years --Classic MD 100-1500 repeats; presents 10-30 years, life expectancy 45-55 --Mild MD: 50-150 repeats; presents age 20-70 years. Normal life span MD Type 2 (proximal myotonic myopathy (PROMM): -Also autosomal dominant. Trinucleotide CCTG, in ZNF9 (zinc finger protein 9) gene on chromosome 2 -Shares much of the clinical features but less distal limb, facial and bulbar weakness, no cognitive impairment and does not have a severe congenital form.

Answer 37

No cure Patient support groups Muscle weakness: Physiotherapy, splints, orthoses Myotonia: procainamide or phenytoin SALT: communication or swallow GI symptoms: metoclopramide Cataracts: ophthalmology Cardiology: ECG monitoring and pacemaker Avoid: statins (myopathy), opiates (resp drive), anaesthesia (malignant hyperthermia)

Answer 38

General appearance: -Expressionless face -Asymmetrical ptosis Gait: -Proximal muscle weakness Upper and lower limb examination -Normal muscle bulk and tone -Proximal muscle weakness (upper > lower limbs) -Fatiguability (test by assessing power before and after performed repeated shoulder abduction) Cranial nerve examination -Bilateral facial weakness -Asymmetrical ptosis -Weak jaw opening/closing against resistance -Complex opthalmoplegia -Diplopia on lateral gaze (pupils normal) -Fatiguability demonstrated by sustained upward gaze (eyes will eventually begin to close) -Pseudo INO due to weakness medial rectus -Weakness bulbar muscles Additional features. Tell examiner you would like to look for: -Thymectomy scar (sternotomy) -Autoimmune disease: diabetes, RA, thyroid dysfunction, SLE -Evidence of steroid use -FVC for resp compromise -Drug history

Answer 39

Lambert-Eaton myasthenic syndrome Primary Myopathies Miller-Fisher syndrome Thyroid disease Multiple sclerosis Amyotrophic lateral sclerosis Drug induced myasthenia-like syndrome

Answer 40

D-penicillamine Interferon alpha Antibiotics: aminoglycosides, fluoroquinolones, macrolides, penicillins and sulfonamides B-blockers: propranolol, atenolol, timolol CCB: verapamil Anticonvulsants: phenytoin, carbamazepine, benzodiazepines Psychiatric drugs: lithium, phenothiazines Anaesthetic agents: propanediol ether, methoxyflurane, lidocaine, procainamide, vecuronium Snake venom toxins Botulinum toxin

Answer 41

Serology: -80-90% nAChR autoantibodies -3-7% MuSK antibodies Other: -Tensilon test (IV edrophonium and see if improvement) -Ice pack test (if tensilon contraindicated, place on eye and see if improvement) -Electrophysiology: repetitive nerve stimulation and single fibre EMG -CT chest thymoma

Answer 42

Cholinesterase inhibitors: -Pyridostigmine (SEs include bradycardia, hypotension, bronchoconstriction, salivation, increased resp secretions, lacrimation, etc etc) Immunosuppressants (corticosteroids): -Used in moderate disease not responsive to cholinesterase inhibitors alone -Start low and go slow until symptoms improved (high dose can cause myasthenic crisis) -Steroid sparing agents: azathioprine, mycophenolate, ciclosporin, tacrolimus Plasmaphoresis and IVIG -Used in crisis Thymectomy -Only absolute indication is presence of thymoma but all myasthenia gravis patients aged <55 usually treated with thymectomy, regardless of thymoma disease -Less evidence for >55 and decisions on case to case basis.

Answer 43

Comprise a group of progressive, non-inflammatory muscle diseases characterised by ongoing degeneration and aberrant regeneration of damaged muscle tissue: -Facioscapulohumeral dystrophy -Duchene muscular dystrophy -Becker muscular dystrophy -Oculopharyngodistal myopathy

Answer 44

General appearance: -Myopathic facies (thin and long) -NO frontotemporal balding or cataracts Gait: -Exaggerated lumbar lordosis -Myopathic/waddling gait -Foot slapping/drag/circumduction if there is foot droop Upper and lower limb examination: -Tone will be normal -Weakness of the shoulder girdle muscles causing winging scapulae -Weakness in proximal muscle groups but deltoid may be spared -Lower limbs may show no abnormality, or minor wasting of anterior tibialis with weak ankle dorsiflexion and foot drop -Deep tendon reflexes may be reduced or absent -Plantars normal -Coordination normal within confines of reduced power -Sensation normal Cranial nerves: -No ptosis of ophthalmoplegia (contrast with myotonic dystrophy or myasthenia which look similar in face) -Facial muscle weakness -Hearing aids (associated sensorineural deafness) -Fundoscopy: retinal telangiectasias Additional: -Look for pulse, pacemaker insertion and cardiovascular exam for dilated cardiomyopathy

Answer 45

DMD and BMD -Patients tend to be younger and symptoms more severe. Calf hypertrophy. No facial weakness Limb girdle muscular dystrophy -Similar to DMD or BMD with cardiomyopathy and calf hypertrophy but later onset. More lower limb. No facial muscle weakness Emery-Dreifuss muscular dystrophy: -Winging of scapulae but presents early with contractures even before muscle weakness. No facial muscle weakness

Answer 46

CK is raised EMG shows myopathic potentials Genetic testing: FSHD is an autosomal dominant condition in up to 90% and sporadic in the remainder with the mutations localised to chromosome 4 but the related genes remain unidentified Muscle biopsy

Answer 47

Physiotherapy to delay/ prevent contractures Surgery to the scapulothoracic area to fixate the scapulae and improve shoulder girdle function Eye protection and lubrication for incomplete eye closure

Answer 48

Approximately 20% will require wheelchair assistance in their lifetime and life expectancy is normal.

Answer 49

General appearance -Will be walking aids or wheelchair -NORMAL facies -Kyphoscoliosis Gait -Myopathic/waddling gait Upper and lower limb examination -Normal tone -Contractures -Wasting and weakness of proximal upper and lower limbs and neck muscles -Pseudohypertrophy of calves -Preferential weakness of extensor muscle groups -Deep tendon reflexes are reduced or absent (plantars normal) -Coordination and sensation normal Additional -Cardiomyopathy and pulmonary hypertension -Spirometry for FVC

Answer 50

These forms of muscular dystrophy affect the same muscle groups but the age of onset is younger and disease progression is more rapid in DMD Adult patients presenting to the examination with DMD may be younger and wheelchair dependent, with severe weakness, contractures and kyphoscoliosis, and marked calf muscle hypertrophy.

Answer 51

CK levels high EMG: Myopathic picture Muscle biopsy: muscle cell proteins become replaced by adipose and connective tissue Genetic testing: -Both are x linked recessive disorders caused by mutations in dystrophin gene on short arm of x chromosome at Xp21 Echocardiography: dilated cardiomyopathy

Answer 52

MDT for counselling, education and follow up Genetic diagnosis and counselling for family Pneumococcal and influenza immunisations Early disease management when patient is ambulant: PT and orthopaedic management of contractures Corticosteroids: can delay wheelchair dependence by up to 3 years and may have some effects on cardiomyopathy PT for resp function and walking aids OT for home adaptations Regular respiratory review for FVC, pulse oximetry and nocturnal oximetry ?NIV Regular ECG monitoring and management of cardiomyopathy

Answer 53

Patients with DMD become wheelchair dependent between ages 7 and 12 years and those with BMD can have a very varied prognosis with onset of wheelchair dependence ranging from 30 to 50 years Survival in DMD is nor much improved with the advent of NIV support and 10-40% of patients are surviving to age 40 years

Answer 54

Gait: -High steppage gait and bilateral foot drop -Ataxic gait and look down at feet due to reduced proprioception -If no obvious foot drop but distal muscle wasting then ask to try heel walking -Positive romberg's test Upper and lower limb examination -Tone is normal -May be fasciculations -Marked symmetrical distal wasting with preserved proximal musculature (inverted champagne bottle) -Pes cavus -Symmetrically reduced power in distal muscle groups -Feel for thickened peripheral nerves particularly at the medial malleolus -Deep tendon hypo/areflexia and reduced/ absent plantar responses -Loss of vibration and proprioception (but all sensory modalities can be affected) -If upper limbs have become affected there could be finger pseudoathetosis with eyes shut -Wasting of small muscles of the hands, claw hand, palpable ulnar at elbow Additional: -May be associated scoliosis and resting or postural tremor in upper limbs

Answer 55

Peripheral neuropathy of other causes: -In HMSN/CMT motor signs predominate over sensory signs. -pes cavus and scoliosis is more common in HSMN Mononeuropathy -Not symmetrical L4-5 nerve root lesion -Again usually not symmetrical, reflexes normal and sensory impairment dermatomal Cauda equina lesions -Saddle anaesthesia and sphincter disturbance

Answer 56

Nerve conduction tests -Reduced conduction velocity or reduced amplitudes Genetic testing (>40 different gene mutations)

Answer 57

MDT includes PT with exercise and orthotic appliances and review by occupational therapy Surgical correction of foot deformity or straightening of hammer toes and tendon transfer Pharmacological treatment of associated neuropathic pain or restless legs syndrome Treat other systemic disorders that could exacerbate neuropathy such as diabetes Avoid drugs that can exacerbate neuropathy such as vincristine and isoniazid

Answer 58

General appearance -Kyphoscoliosis Gait -Gait ataxia is both cerebellar and sensory (i.e. wide based, truncal ataxia but also looking down at feet and stomping gait) -Romberg's positive Upper and lower limb examination -Tone normal or reduced -Distal wasting and weakness lower limbs and pes cavus -Pyramidal weakness (due to corticospinal tracts) -Deep tendon reflexes are reduced or absent -Extensor plantar responses -Impaired vibration and position sense -Limb ataxia -Intention tremor Cranial nerve examination -Bilateral gaze-evoked nystagmus -Jerky saccadic movements -Hearing aids -Optic atrophy -Staccato speech Additional -High arched palate, kyphoscoliosis and pes cavus -Finish exam by requesting to examine cardiovascular system for hypertrophic cardiomyopathy and BM testing.

Answer 59

Other causes of reduced/ absent ankle jerks with extensor plantar reflex -Subacute combined degeneration of the cord -Conus medullaris lesion -MND -Tabes dorsalis -Combined pathology: diabetic neuropathy and stroke; peripheral neuropathy and central myopathy

Answer 60

Nerve conduction tests: Mildly reduced conduction velocity and reduced amplitudes Visual evoked potentials: abnormal in up to 2/3rds Brain-stem auditory-evoked potentials: may show involvement of central auditory processing pathways ECG: inferolateral T-wave inversion, conduction defects, LVH ECHO: LVH and cardiomyopathy Blood tests: -Fasting glucose and HbA1c (10% frank DM, 40% impaired glucose tolerance) -Rule out abnormalities of vitamin E or copper metabolism Genetic testing: -FXN gene on chromosome 9. GAA trinucleotide repeat Brain and spinal cord imaging: MRI shows atrophy of cervical spinal cord and degeneration within cerebellar hemispheres and vermis

Answer 61

PT to maintain function and reduce contractures. Mobility aids OT for environmental adaptation SALT Surgical correction of foot deformity/pes cavus and advanced kyphosis Screen for and treat DM Visual and hearing aids Cardiology review and management

Answer 62

Progressive with nearly all patients wheelchair bound by age 45 years. Reduced life expectancy, which ranges from 30 to 70 years, particularly for those patients with cardiac and diabetic complications.

Answer 63

General appearance -Younger may have friedreich's ataxia, ataxia telangiectasia or one of the spinocerebellar ataxias -Older may have signs of alcolism Gait -Ataxic gait (falls to side of lesion) -If not evident then heel-toe walking -Romberg's will be negative in a true cerebellar ataxia (if positive then think alcoholic ataxia, friedreich's or MS) Upper and lower limb examination -Tone may be reduced on side of lesion or increased if MS -Power should be normal, unless MS -Impaired finger nose and intention tremor with dysmetria -Dysdiadochokinesis Cranial nerve -Horizontal nystagmus (fast component toward side of lesion and maximal in this direction -Loss of smooth pursuit with jerky eye movements -INO and opthalmoplegia points to MS -Bilateral cerebellar disease there will be dysarthria and staccato speech

Answer 64

Sensory ataxia -Cerebellar and sensory ataxia may coexist in alcoholic cerebellar degeneration, MS and Friedreich's ataxia -Finger-nose pointing and heel shin may be normal (as overcome by visual input) -Romberg's positive -Maybe pseudoathetosis -Pure sensory ataxia has no dysarthria, nystagmus or other occulomotos signs or intention tremor Alcoholic cerebellar degeneration Ischaemic or haemorrhagic stroke MS Less common causes: -Friedreich's ataxia -Drug induced ataxia (phenytoin, carbamazepine, vigabatrin, gabapentin, phenobarbital, fluorouracil, intrathecal methotrexate, lithium -Hypoxic encephalopathy or heat stroke -Acute cerebellitis (chickenpox or coxsackievirus) -Posterior fossa SOL -Paraneoplastic degeneration -Hypothyroidism -Hypoparathyroidism including: Kearn's Sayre syndrome -Thiamine deficiency -Vitamin E deficiency -Telangiectasia ataxia -Von Hippel lingaeu -Spinocerebellar araxias -Arnold chiari malformatioin -Multiple system atrophy -Wilson's disease -Refsum disease

Answer 65

Has many different possible causes so investigations are tailored to the most likely diagnosis Blood tests: LFTs, GGT, TFTs, bone profile, PTH, vitamins E and B12, and thiamine levels Serum ceruloplasmin levels and urinary copper Serum phytanic acid level (Refsum disease) Implicated drug levels Autoantibody screen (if paraneoplastic suspected) Neuroimaging (first line if stroke, space occupying lesion or MS suspected)

Answer 66

Tailored to the cause

Answer 67

Peripheral neuropathies are divided into primary motor, sensory, or sensorimotor with additional autonomic effects. Sensory peripheral neuropathies are further sub-divided into small- and large- fibre neuropathies

Answer 68

The vast majority of peripheral neuropathies show length-dependent signs due to their underlying axonal and/or demyelinating pathology, so most cases will involve examination of the lower limbs. Asymmetrical neuropathies or signs presenting in the upper limbs should make you consider alternative diagnoses like focal entrapment neuropathy or multifocal neuropathy that can arise with vasculitides.

Answer 69

Large fibre (vibration and proprioception) conducted by Aalpha and Abeta fibres making up the spinal dorsal columns Small fibre (pain and temperature sense) conducted by myelinated Adelta(III) and unmyelinated group C-fibres, which form the spinal lateral spinothalamic tracts.

Answer 70

Lying standing blood pressure (autonomic involvement) Blood tests: FBC, renal, bone profile, liver profile and GGT ESR, fasting glucose, TFTs, vitamin B12, folate, thiamine levels, serum ACE (sarcoidosis) Infection panel: HIV, Lyme disease, syphilis serology Serum protein electrophoresis for multiple myeloma and MGUS Urinalysis: bence jones protein, perphyrias Lumbar puncture (Guillain-Barre syndrome/ CIDP Genetic testing HMSN Autonomic function tests Nerve conduction tests and EMG studies -For large fibres Skin tests for small fibre neuropathy Nerve biopsy

Answer 71

Neuropathies developing over hours must be admitted due to risk of respiratory or autonomic failure with cardiac arrhythmias Diabetic neuropathy is most common cause. Tight glycaemic control reduced incidence. -Good foot care is essential Painful neuropathy may need pregabalin, duloxetine etc Autonomic manages as per orthostatic hypotension Gastric paresis: metoclopramide or erythromycin and frequent small meals Bladder dysfunction: bladder training or long term catheter Erectile dysfunction: PDE-5 inhibitors, intracavernosal injections, vacuum devices or protheses.

Answer 72

Unilateral facial weakness affecting all facial muscles -Evidenced by unilaterally smooth face with relaxed expression lines Failure to fully crease the forehead and raise the eyebrows, close the eyes tightly. Bells phenomenon may be seen where the orbit rolls upward on attempted closure of the eye.

Answer 73

LMN weakness to the facial muscles Tongue appearing to deviate to the opposite side (due to lax mouth muscles) -True contralateral XII palsy will have weak tongue wagging and wasting Look for scars around parotid or ear/mastoid (trauma or iatrogenic cause) Check other nerves in particular V, VI and VIII which could point towards cerebellopontine angle tumour -Check corneal reflex and look for subtle rash of Ramsay Hunt Syndrome (hearing) -When checking nerve VI, look for any other ophthalmoplegia ?myasthenia gravis, which may give complex ophthalmoplegia and (usually) bilateral facial weakness Additional: -Ask to test taste on anterior two-thirds of tongue (chorda tympani) and enquire about tear and salivary production -Ask about symptoms or hyperacusis

Answer 74

Unilateral: -Bells palsy -Ramsay hunt syndrome -Demyelination -Trauma -Surgery -Tumour -Vascular -Mononeuritis multiplex Bilateral: -Bilateral bell's palsy -Miller fisher -Myasthenia gravis -Facioscapulohumeral dystrophy -Myotonic dystrophy -Mononeuritis multiplex

Answer 75

If history acute with no associated features such as other cranial nerve involvement, gradual onset or significant pain then no other investigations are required other than fasting glucose and BP measurement (associated with diabetes and HTN) Unusual features then Blood tests: FBC, CRP, ESR, Blood glucose/HbA1c, serum ACE, autoantibodies, infection screen NCS and EMG: if GBS or NMJ disease suspected Imaging: MRI for tumours

Answer 76

Steroids: high dose pred ASAP Antivirals: little evidence in Bell's. Used in suspected RHS and started within 72 hours. Valaciclovir Eye protection: artificial tears, taping eyelid shut. If there is suspected involvement of the ophthalmic branch of nerve V, ophthalmological review is mandatory Surgery: severe paralysis and no improvement after first 4 weeks, decompression or reconstruction may be of benefit.

Answer 77

Some degree of recover expected within 4-6 months (which is diagnostic) 70% make a full recovery, 15% have slight impairment and 15% have permanent significant dysfunction of the facial nerve.

Answer 78

Abductor pollicis brevis Flexor pollicis brevis Opponens pollicis Adductor pollicis

Answer 79

Thenar muscles Hypothenar muscles Doral interossei Palmar interossei Lumbricals

Answer 80

Abductor digiti minimi Flexor digiti minimi brevis Opponens digiti minimi

Answer 81

Flex the MCP, extend the PIP and abduct the four ulnar digits (DAB)

Answer 82

Adduct the 4 ulnar digits together (PAD)

Answer 83

Extend the IP joints in any position of the MCPs

Answer 84

The ulnar nerve innervates most of the intrinsic muscles of the hand except for the two radial lumbricals, opponens pollicis, abductor pollicis brevis and flexor pollicis brevis (LOAF), which are served by the median nerve. The nerve roots serving the small muscles of the hand are from C8 and T1, and form the lower part of the brachial plexus.

Answer 85

Point thumb upwards away from palm against resistance (abductor pollicis brevis - median nerve). Touch the tip of the thumb to the tip of their little finger in a pincer grip and stop you from pulling your ginger through (opponens pollicis - median nerve, opponens digiti minimi - ulnar nerve) Stop you pulling a card from between adjacent fingers (adductors of the palmar interossei - ulnar nerve) Abduct their finger as you apply resistance against it with your index finger (abductors of the dorsal interossei - ulnar nerve) Place hand sideways, thumb upwards and grip a card between their straight thumb and index finder as you try to pull it our (adductor pollicis - ulnar nerve) -If there is weakness just in the ulnar nerve the patient will use flexor pollicis brevis (median nerve) by bending the thumb and gripping the card. Test for finger and wrist extension (radial nerve) which will be normal if there is only median and/ or ulnar nerve pathology If you feel that patients are able, you can ask them to make a fist and relax the hand several times quickly, looking for the 'warm-up' effect, or lightly tap on the thenar eminence looking for myotonia.

Answer 86

Distal median nerve lesions (carpal tunnel syndrome): -Thenar wasting -Thumb externally rotated and adducted -Index and middle fingers held in extension Motor function -Weak thumb abduction -Weak thumb opposition -Normal flexion of the thumb at the IP joint due to intact innervation of flexor pollicis longus in forearm -Arm pronation and wrist flexion normal if median nerve lesion is distal Sensory loss palmar aspect of the bumb and lateral two and a half fingers BUT normal sensation over thenar eminence Additional tests: Tinel's test -Phalen's test -Median nerve compression test Additional signs (examine for signs of other diseases associated with carpal tunnel syndrome): -Hypothyroidism -Acromegaly -RA -DM -Gout

Answer 87

Compression of the median nerve acn occur as it passes between the two heads of the pronator teres, high in the volar aspect of the forearm. It can present with purely sensory symptoms of pain over the volar surface of the forearm at rest or with forearm pronation. There will be sensory loss within the median distribution including the thenar eminence (unlike carpal tunnel syndrome)

Answer 88

Typically affected by midshaft fracture of the radius, excessive exercise or penetrating injuries of the forearm. There is weakness of the thumb and index finger flexion, best shown with the 'okay' sign i.e. flattened due to failure of distal flexion. The thenar eminence muscles are spared. There is no sensory loss.

Answer 89

Elbow lesions -Fracture: supracondylar fractures are most common -Dislocation -Compression: ligament of struthers Forearm lesions: -Fracture: midshaft radial fracture causing anterior osseous palsy -Injury: penetrating injury of the forearm -Compression: pronator teres syndrome Wrist lesions: -Fracture/trauma -Carpal Tunnel syndrome

Answer 90

Treat any underlying associated conditions Physiotherapy and splint the wrists with a degree of dorsiflexion Steroid injections into the carpal tunnel area Surgical decompression of the carpal tunnel

Answer 91

Inspection: -Dorsal guttering and marked wasting of the first interosseous between thumb and index -Clawed appearance -Slight ulnar deviation of the fifth finger (known as Wartenburg's sign) from unopposed action of extensor digiti minimi (radial nerve) -Marked hypothenar wasting with sparing of thenar eminence Motor function -Weak abduction and weak adduction -Weak thumb adduction (Froment's sign) -Intact flexion of the fourth and fifth DIP joints -Intact medial/ ulnar flexion of the wrist Sensory loss in ulnar distribution -Test along the radial side of the fourth finger and up the ulnar border of the wrist and forearm to check that this does not represent a C8-T1 lesion instead

Answer 92

Inspection -Dorsal guttering and marked wasting of the first interosseous -MILD/NO clawed appearance (ulnar paradox) -Slight ulnar deviation of the fifth finger (known as Wartenburg's sign) from unopposed action of extensor digiti minimi (radial nerve) -Marked hypothenar wasting with sparing of thenar eminence Motor function: -Weak abduction and weak adduction -Weak thumb adduction (Froment's sign) -Intact flexion of the fourth and fifth DIP joints -WEAKNESS of medial/ ulnar flexion of the wrist Sensory loss in ulnar distribution Elbow flexion test (for compression at elbow - particularly cubital tunnel syndrome) Elbow is flexed fully with the forearm supinated, and within 60 seconds the patient starts to feel pain or tingling in the fourth and fifth fingers.

Answer 93

Elbow lesions: -Fractures: supracondylar fracture most common -Dislocation: --Arthritis: bony spurs and narrowing of ulnar groove --Compression: cubital tunnel syndrome Wrist lesions: -Fractures -Ganglion -Tumour -Mononeuritis multiplex

Answer 94

Blood tests: -FBC, CRP, ESR, ANA, anti-DNA, ANCA, RF, heb B and C serology Nerve conduction studies to localise site Imaging -Plain radiograph elbow joint, US of the cubital tunnel or MRI

Answer 95

Avoidance of aggravating factors, physiotherapy, splinting, NSAIDs Surgical: transposition of the ulnar nerve and/or decompression of the cubital tunnel.

Answer 96

Inspection -Wrist drop and slight finger flexion -No wasting of hand muscles -Look for scars Motor function: -Weakness of elbow extension and flexion -forearm supination -Wrist extension and finger extension at the MCP joints -Both triceps and brachioradialis deep tendon reflexes are absent Sensory loss: over triceps, posterior forearm and first dorsal interosseous

Answer 97

Inspection: -Wrist drop and slight finger flexion -No wasting of hand muscles -Look for scars Motor function -Weakness below triceps -i.e. weakness elbow flexion but extension normal -Weakness wrist extension and finger extension at the MCP joints -Triceps reflex is PRESERVED but brachioradialis deep tendon reflexes are absent Sensation: -Loss over posterior forearm and first dorsal interosseous. Variable loss of sensation over triceps

Answer 98

Inspection: -Wrist drop and slight finger flexion -No wasting of hand muscles -Look for scars Motor: -INTACT elbow flexion and extension and forearm supination -Weakness of wrist extension and finger extension at MCP joints -Triceps and brachioradialis reflexes intact Sensory -No sensory loss as purely motor nerve

Answer 99

Inspection: -hand and arm appear normal -Look for scars though NO MOTOR weakness Sensory loss in the first dorsal interosseous only

Answer 100

Axillary lesion: -Fracture/ dislocation of the humeral head -Compression: use of shoulder crutch or saturday night palsy Spiral groove lesions: -Fracture: mid shaft fracture of the humerus -Compression: wheelchair users resting back of arm against chair Posterior lesions: -Compression: from the arcade of Frohse/ supinator arch Interosseous lesions -tumours/lipomas or ganglia near the elbow Wrist lesions -Fracture: at the distal radius -Compression: tight bracelets/ handcuffs/ plaster casts

Answer 101

electrophysiology: NCS and EMG Imaging: US/ MRI may be rarely considered

Answer 102

Conservative management of 'Saturday night' palsy with spontaneous improvement Physiotherapy and splinting for mild compressive lesions Surgical correction of fracture/ dislocations

Answer 103

Sciatic nerve divides into its terminal branches, the tibial nerve and common peroneal nerve, two thirds down the posterior thigh. The tibial nerve serves the posterior compartment of the lower leg, producing plantar flexion and inversion. The common peroneal nerve serves the anterior part of the lower leg, winding around the neck of the fibula and dividing into the superficial peroneal nerve (foot eversion and sensation to lateral lower leg and dorsum of foot) and the deep peroneal nerve (foot and toe dorsiflexion and sensation to the dorsal web space between the hallux and the second toe).

Answer 104

Inspection: -foot drop with high stepping gait -Wasting of antero-lateral compartment of the lower leg -Look for scars Motor function: -Weakness of ankle dorsiflexion and hallux extension (deep peroneal) and eversion (superfical peroneal) -Ankle jerk intact and plantar reflex downwards -Normal plantarflexion and inversion -In mild cases weakness may be seen only when asking patient to walk on heels Sensory loss: -Lateral calf and dorsum of foot, but sparing the little toe.

Answer 105

Inspection: -Wasting of the lateral compartment of the lower leg but NO obvious high stepping gait -Look for scars Motor function: -Slight weakness of ankle dorsiflexion which might only bee seen when asked to walk on heels -NO weakness of hallux extension -Mild weakness of eversion Sensory loss -Lower lateral calf and dorsum of foot, but sparing the little toe.

Answer 106

Inspection: -Foot drop with high stepping gait -Wasting anterior compartment lower leg Motor function: -Weakness of ankle dorsiflexion and hallux extension but intact eversion (superficial peroneal nerve) Sensory loss: -Dorsal web space between hallux and second toe

Answer 107

Myopathy -Bilateral, all foot movements weak, no sensory loss Sensorimotor peripheral neuropathy -Stocking pattern sensory loss including little toe, bilateral, dorsal column signs, positive rombergs Neuromuscular junction -reflexes and sensation normal, bilateral, fatiguable MND -Bilateral, mixed UMN and LMN, no sensory signs Sciatic nerve lesion -Foot drop but also weak plantarflexion and inversion, weak knee flexion (preserved knee extension) and hip extension -Sensory loss along posterior thigh, lower leg and foot Lumbosacral plexus lesion -As sciatic nerve but with femoral nerve involvement -Additional weakness hip flexion, abduction and adduction, and knee extension -Knee and ankle jerks lost -Sensory loss anterior thigh and medial lower leg L4-5 radiculopathy -As common peroneal nerve lesion -Weak hip abduction and adduction -Knee jerk may be lost but ankle jerks preserved Spinal cord lesion

Answer 108

Monocular or binocular/ conjugate Position: primary (looking forward) or only gaze related Type: pendular (equal velocity in either direction) or jerk: a slow drift then fast corrective phase - the direction of nystagmus refers to the fast phase Plane: horizontal, vertical or rotatory/ torsional

Answer 109

Binocular/ conjugate, primary and gaze related jerk nystagmus which is in the horizontal plane, and the direction of nystagmus (fast phase) is towards the same side as the cerebellar lesion and maximal on looking towards this side -Does not fatigue with continued gaze to affected sides Will be present with other DANISH signs Make sure to also test cranial nerve V and cranial nerve VIII to rule out lesion at cerebellopontine angle and to perform fundoscopy ?optic atrophy in MS

Answer 110

Unilateral cerebellar pathology and nystagmus will tend to be caused by structural lesions: -Cerebrovascular events: e.g. lateral medullary syndrome -Demyelination, e.g. MS -Cerebellar/ posterior fossa tumours Bilateral cerebellar nystagmus will be caused by systemic pathology: -Toxins (alcohol, chemotherapy and anticonvulsants) -Autoimmune and paraneoplastic processes -Inherited disorders involving cerebellar degeneration (e.g. olivopontocerebellar degeneration and Friedreich's ataxia)

Answer 111

Binocular/ conjugate horizontal or rotatory/ torsional nystagmus which is a primary and gaze-related unidirectional jerk nystagmus with the fast component maximal to the opposite side of the vestibular lesion. Fatigues with continued gaze away from side of lesion No cerebellar signs. Tinnitus and deafness on side of lesion Gait may be unsteady, falling towards the side of the lesion, patient may describe vertigo symptoms.

Answer 112

Labyrinthitis Acoustic neuroma Meniere's disease Benign paroxysmal positional vertigo Autoimmune inner ear disease Degenerative middle ear disease (otosclerosis)

Answer 113

Binocular/ conjugate, horizontal/ vertical/ rotatory or mixed (may appear chaotic) nystagmus Primary and gaze-related It is MULTIDIRECTIONAL so that on looking to the left it is leftward (fast component to the left), looking to the right it is rightward and looking up it is upward. There is no fatigue of the nystagmus on sustained gaze in any direction. No peripheral symptoms or cerebellar signs

Answer 114

-Brain stem stroke and vertebrobasilar insufficiency, -Brain stem tumours -Demyelination such as MS -Syringobulbia The central vestibular system includes the vestibular nerve nuclei and their projections to the cerebellum, extraocular nuclei via the medial longitudinal fasciculus, spinal cord via vestibulospinal tract and projections to the cortex

Answer 115

Multidirectional nystagmus that can appear chaotic The oscillation has equal velocity in all directions Look around the bed for clues of visual aids used by the blind patient and a general appearance of albinism Ask to perform fundoscopy to look for optic atrophy, signs of retinitis pigmentosa and cataracts with disruption of the red reflex

Answer 116

Monocular or binocular visual deprivation is most common Other causes -Demyelinating disease (e.g. MS) -Brain stem dysfunction

Answer 117

Failure of conjugate eye movements on lateral gaze. In the primary gaze there may be a divergent strabismus. For left sided INO (lesion in ipsilateral MLF) -Partial or total failure of adduction of the left eye on looking right, -Normal abduction of the right eye, with jerk horizontal nystagmus in the abducting eye with fast corrective phase towards the right side. It can be shown that this is not a left medial rectus palsy by covering the right abducting eye, the left eye adducts normally with convergence Look for additional eye signs supportive of MS such as optic atrophy, visual field defects, optic disc pallor on fundoscopy or RAPD. Look for cerebellar signs

Answer 118

INO is due to lesion in MLF within the pons and midbrain, which connects the contralateral nerve VI nucleus to the ipsilateral oculomotor nerve (III) nucleus. MS most common in young Brain stem infarction most common in older Other causes: -Brain stem tumour -viral infection -syphilis infection -lyme disease -trauma -Arnold-chiari malformation -syringobulbia -Drugs (phenothiazines, phenytoin, TCA) and alcohol

Answer 119

Bilateral downbeat nystagmus in the primary gaze Look for signs of syringobulbia and syringomyelia with may occur together with an arnold-chiari malformation, e.g. bulbar palsy, INO, balaclava-helmet loss of facial sensation, a dissociated sensory loss usually in cape distribution, LMN signs in the upper limbs and UMN signs in the lower limbs. Look for cerebellar signs that may also suggest syringobulbia or a posterior fossa tumour

Answer 120

Usually signifies pathology at the craniocervical junction Arnold-chiari malformation is the most common cauase Other causes: -brainstem stroke -syringobulbia, -spinocerebellar degeneration -MS -Drugs (phenytoin, lithium, alcohol)

Answer 121

Bilateral vertical nystagmus in the primary position with the fast phase beating in the upward position. If the nystagmus INCREASES on UPWARD gaze, this suggests pathology in anterior vermis of cerebellum. -There may be other cerebellar signs such as loss of smooth saccades, slurred speech and truncal ataxia If the nystagmus INCREASES on DOWNWARD gaze, this suggests pathology in the medulla. -There may be associated brain stem signs such as palatal weakness with nasal speech

Answer 122

Ipsilateral ptosis Eye lies in down and out -Unopposed combined action of lateral rectus and superior oblique Divergent strabismus/ squint Diplopia maximal on trying to look away from affected side and up Dilated and non-reactive pupil (from parasympathetic fibre involvement) ------------------------------------------------------- With a nuclear lesion there will be contralateral signs in addition to ipsilateral as above -Contralateral partial ptosis (more pronounced on affected side) -contralateral elevation palsy

Answer 123

Nuclear lesion: infarction, haemorrhage, tumour, abscess, demyelination Midbrain lesion: herniation, infarction, haemorrhage, tumour, abscess, demyelination (MS) Subarachnoid lesion: aneurysm, haemorrhage, meningitis, inflammation including vasculities (giving rise to mononeuritis multiplex), tumour, migraine Cavernous sinus lesion: tumour (pituitary, craniopharyngioma), thrombosis, aneurysm, fistula, infection, inflammatory Orbital lesion: trauma, tumour Small vessel disease: diabetes, hypertension, atherosclerosis Infection: Lyme disease, syphilis, basilar meningitis

Answer 124

This can be very subtle so you have to actively look for it The affected eye appears slightly elevated/ normal The patient has a head tilt away from the side of the lesion, tucking the chin in slightly to correct The affected eye cannot look down in adduction (towards the nose) -It is in this position the patient experiences most vertical diplopia

Answer 125

Congenital Trauma (most common) Small vessel disease: diabetes, HTN, atherosclerosis Inflammatory: mononeuritis multiplex, peripheral neuropathy Infection: Lyme disease, syphilis, basilar meningitis Midbrain/ nuclear lesion: infarct, haemorrhage, tumour, abscess, demyelination (MS) Cavernous sinus lesion: tumour (pituitary, craniopharyngioma), thrombosis, aneurysm, fistula, haemorrhage, infection, inflammatory

Answer 126

Convergent strabismus Horizontal diplopia maximal on attempted gaze in the direction of the paretic muscle On testing remaining nerves pay particular attention to nerves VII and VIII, and check for nystagmus and other cerebellar signs that would indicate a cerebellopontine angle lesion. -There may be signs of bilateral papilloedema (false localising sign)

Answer 127

Congenital: absence of nerve VI (Duane's syndrome) Trauma Raised ICP: SOL or idiopathic intracranial HTN Small vessel disease: diabetes, HTN, atherosclerosis Inflammatory: mononeuritis multiplex, postviral, peripheral neuropathy Infection: lyme, syphilis, basilar meningitis Pontine/ nuclear lesion: infarct, haemorrhage, tumour, abscess, demyelination (MS) Petrous bone pathology: severe otitis media -> infiltrative osteomyelitis involving petrous temporal bone Cavernous sinus lesion: tumour (pituitary, craniopharyngioma), thrombosis, aneurysm, fistula, haemorrhage, infection, inflammatory

Answer 128

Thyroid ophthalmopathy -Proptosis, chemosis, lid lag and other thyroid signs Myasthenia gravis -Eye movements are fatigable -No pupillary signs Miller-Fisher syndrome -opthalmoplegia, ataxia and areflexia Chronic progressive external ophthalmoplegia (CPEO) -Most common manifestation of mitochondrial myopathy -Bilateral progressive ptosis, bilateral ophthalmoplegia without pupillary changes -Kearns-Sayre triad is <20 years, CPEO and retinitis pigmentosa -Other features include cerebellar syndrome, cognitive impairment, Babinski's sign, hearing loss, seizures, short stature Oculopharyngeal dystrophy

Answer 129

Painful ophthalmoplegia (unilateral single or usually combined nerve III, IV and VI palsies) Horner's syndrome (with no associated anhidrosis because lesion occurs after superior cervical ganglion) Anaesthesia of forehead, maxilla and conjunctiva (V1 and V2 branches) Proptosis (if pulsating suggests carotid-cavernous fistula) Conjunctival injection with chemosis Papilloedema +/- visual loss Orbital bruit

Answer 130

Tumours: meningiomas, extension of pituitary or craniopharyngiomas, metastatic disease Vascular: cavernous sinus aneurysms or fistulae Thrombosis: usually complicating infection of the ethmoid, frontal and sphenoid sinuses or extension of dental or orbital infection Inflammatory: herpes zoster, sarcoidosis and Wegener's granulomatosis Idiopathic: -Tolosa-Hunt syndrome: rare granulomatous inflammation of the cavernous sinus and superior orbital fissure

Answer 131

These are urgent if an aneurysm, SAH, uncal herniation, meningitis, stroke or trauma is suspected Imaging: CT or MRI of the brain. Cerebral angiography may be needed to invetigate aneurysmal disease and AV malformations including fistulae Blood tests (for small vessel disease) -fasting blood glucose/ HbA1c, autoimmune profile, pANCA and cANCA, ESR and CRP Lumbar puncture: indicated if suspecting meningitis

Answer 132

All depends on underlying cause May resolve spontaneously over months if ischaemia of the vasa nervosa (HTN or diabetes) -This typically gives relative sparing of the pupil and is often painful for unknown reasons (NSAIDS may ameliorate this) Patching of the deviated eye can be a useful short term measure. In the long term, surgical correction may be indicated for a non-resolving stable angle

Answer 133

Botox (of other muscles) Prisms Surgical correction

Answer 134

When isolated in children and young patients, are often benign and resolve spontaneously within 6 months -Cause is unclear Alternate patching may be useful to prevent amblyopia In older patients GCA should be considered and treated with steroids if appropriate

Answer 135

Cerebrovascular event -Look for hemiparesis, UMN facial palsy, dysphasia -Examine for AF, pacemaker, carotid bruit, check BP Tumour: -Papilloedema, other cranial nerves and cerebellar signs -Palpate scalp for scars, step deformity and shunts Trauma

Answer 136

Tumour: pituitary tumours from below affect field from top to bottom; craniopharyngiomas and suprasellar meningiomas progress from bottom to top Aneuryms: anterior communicating artery aneurysm Unilateral nasal field defect

Answer 137

Bilateral most commonly glaucoma Tumours: meningioma, mets Aneuryms: sclerosis or aneurysm of internal carotid artery Retinal disease: branch retinal artery or vein occlusion, chorioretinitis

Answer 138

Lesion on one side behind chiasm and affecting Meyer's loop within the optic radiation of the temporal lobe Cerebrovascular event: -Ischaemia within the region of the middle cerebral artery which may also affect Wernicke's area, causing receptive aphasia Tumour: astrocytomas or metastases Trauma: accidental or iatrogenic secondary to surgery

Answer 139

Optic neuritis -Look for disc swelling, RAPD, reduced visual acuity. Eye movements can be painful -Causes: MS, syphilis, vasculitis Optic atrophy: -MS, tumours, Friedreich's, retinitis pigmentosa, syphilis, foster kennedy syndrome Age-related macular degeneration Genetic: Leber's atrophy Stargardt's disease

Answer 140

Glaucoma Branch retinal artery occlusion Branch retinal vein occlusion Retinitis pigmentosa Chorioretinitis -toxoplasmosis, CMV, syphilis, onchocerciasis -Usually there is underlying HIV

Answer 141

Goldman perimetry -Uses static or kinetic light source on background of a white bowl and tests the entire visual field Amsler grid -Tests only the central 20 degrees of the visual field and is used predominantly to assess macular vision Imaging: -CT or MRI -Cerebral angiography to investigate aneurysmal disease and AV malformations including fistulae Blood tests: -Fasting glucose/ HbA1c, autoimmune profile, pANCA cANCA, ESR and CRP

Answer 142

Fluency Comprehension Repetition Naming

Answer 143

Speech is fluent but with nonsense content -Paraphasias and neologisms Patient has reduced comprehension Impaired repitition Patient is calm and shows anosognosia (lacking awareness of language deficit) Look for homonymous superior quadrantanopia and associated right sided weakness and sensory defects

Answer 144

Speech is non-fluent, halting with agrammatism Mostly intact comprehension Aware of language deficit Repetition is impaired Examine cranial nerves and limbs looking for UMN facial and limb weakness

Answer 145

Speech is fluent Intact comprehension Impaired repetition Difficulty with naming objects Patient is aware of language deficit and can become frustrated Examine cranial nerves including visual fields looking for right sided homonymous hemianopia or right sided inferior quadrantanopia Look for neglect Depending on extent there may be hemiparesis ---------------------------------------- Lesion is in dominant hemisphere within arcuate fasciculus or its connections. This is an area in the left inferior parietal lobe served by the inferior division of the left MCA

Answer 146

Speech is non-fluent and halting with non-sense content and paraphasias and neologisms Impaired repetition and naming May or may not be aware of language deficit Look for right sided homonymous hemianopia and right sided UMN facial and limb hemiparesis and sensory loss -------------------------------------- The lesion is inn the dominant hemisphere affecting both Broca's and Wernicke's areas. The size of lesion is usually caused by an ischaemic or haemorrhagic stroke associated with the left MCA

Answer 147

This presents as for Wernicke's sensory dysphasia but repetition is intact The lesion is in the dominant hemisphere in a watershed area between the left MCA and the left posterior cerebral artery.

Answer 148

This presents as for Broca's motor dysphasia but repetition is intact The lesion is in the dominant hemisphere in a watershed area between the left MCA and left anterior cerebral artery

Answer 149

Stroke is the most likely cause of all types of dysphasia Trauma: haemorrhage or contusions Tumour: primary or metastatic Infection: viral encephalitis, bacterial meningitis, abscess, lyme, toxoplasmosis MS: rare cause of dysphasia

Answer 150

Bulbar palsy refers to impaired function of lower cranial nerves IX-XII, the nuclei of which are in the medulla. More broadly bulbar palsy is now taken to mean impairment of cranial nerves, V, VII and IX-XII, all of which can affect speech, swallowing and facial movements. In contrast pseudobulbar palsy describes an UMN lesion within the corticobulbar tracts that synapse on these lower cranial nerves IX-XII, also producing dysarthria and difficulties swallowing

Answer 151

Speech -Flaccid dysarthria. Voice is weak and quiet. -Nasal quality to speech -Wasted tongue has particular difficulty articulating lingual and labial consonants Cranial nerve exam -Look for a weak and wasted tongue with fasciculations -Ask the patient to push the tongue against the inside cheek and provide resistant -Palatal weakness when saying "aaaah" -Reduced gag reflex -Weak jaw opening -Jaw jerk is absent -Weak shoulder shrug -Look for ptosis and fatigue with upper gaze (myasthenia) -INO in syringobulbia Upper and lower limbs -If mixed UMN and LMN then ?MND -If wasting small muscles hands with UMN weakness in the upper and lower limbs, and sensory dissociation ?syringobulbiaP

Answer 152

BILATERAL SIGNS because there is bilateral cortical innervation of the cranial nerves except for cranial nerves VII and XII Speech -Spastic dysarthria -Voice is harsh and sounds strangled -Nasal quality to speech Cranial nerves -Tongue small and stiff with attempted movements -Jaw may hang open with brisk jaw jerk -Maybe bilateral UMN facial weakness -Look for INO, nystagmus or optic atrophy if ?MS Upper and lower limb -UMN and LMN signs if considering MND -Look for cerebellar signs if ?MS There can be emotional lability with pseudobulbar palsy expressed as involuntary laughing or crying

Answer 153

Motor neurone disease Syringobulbia Brain-stem stroke Brain-stem tumour Poliomyelitis Guillain-Barre syndrome Diptheria Myasthenia gravis

Answer 154

Motor neurone disease Multiple sclerosis Bilateral neurovascular disease Tumour of the pons

Answer 155

1. There are four medial structures in the brain stem (M for Medial) -Motor pathways (corticospinal/ pyramidal tracts) -Medial lemniscus (becomes the dorsal column -Medial longitudinal fasciculus -Motor nuclei (LMN) as in (4) and their ipsilateral nerves 2. There are 4 lateral structures in the brain stem (S for Side) -Spinothalamic pathways -Spinocerebellar pathways -Sympathetic tract -Sensory nucleus of cranial nerve V (this is a large nucleus extending from the midbrain down to the upper cervical cord 3. There are four main cranial nerve nuclei in the medulla, four in the pons and four above the pons (two in the midbrain, nuclei of cranial nerves III and IV) 4. There are four motor nuclei in the midline (dividing into 12) - III, IV, VI and XIII - and the remaining nuclei with motor components V, VII, IX and XI are situated laterally in the brain stem

Answer 156

e.g. left sided Cranial nerves -Left sided Horney's syndrome -Horizontal nystagmus (fast component to left) -Left sided reduced facial sensation to pinprick (pain and temp) but normal sensation to light touch -Normal facial movements -Left sided palatal weakness (LMN X palsy) -Diminished/ absent gag reflex -Tongue movements are normal Upper and lower limb -Right sided impairment of sensation to pinprick. Normal light touch -Left sided cerebellar signs ---------------------------------------------- Above demonstrates pathology in the sympathetic, spinocerebellar, spinothalamic tracts and sensory component of cranial nerve V Thus using the 'rule of four' we can identify this as a lateral brain-stem syndrome. Involvement of the lower cranial nerves IX-XI places this at the level of the medulla, so these signs are consistent with a left lateral medullary syndrome This syndrome is usually die to a stroke affecting the posteroinferior cerebellar artery (PICA). If the lesion is in the vertebral artery then more medial structures can be affected, including motor tracts causing a contralateral hemiparesis

Answer 157

e.g. right side Cranial nerve examination -Right sided nerve III palsy -Left sided UMN facial weakness -Remainder of examination normal Upper and lower limb -left sided hemiparesis -Normal sensation to light touch and pinprick. No cerebellar signs -------------------------------------- Above demonstrates pathology in medial pyramidal and corticobulabar tracts (UMN nerve VII) and involvement of nerve III nucleus and is consistent with a right sided midbrain lesion. This syndrome is produced by a stroke affecting the paramedian branches of the basilar or posterior cerebral arteries.

Answer 158

right sided Cranial nerves -Right sided VI palsy (failure to abduct eye looking right) -Right sided INO (failure to adduct right eye looking left BUT normal adduction on convergence) -Right sided LMN nerve VII palsy with ipsilateral facial weakness Upper and lower limb examination -Contralateral left sided hemiparesis -------------------------------------------- Above demonstrates pathology right medial pyramidal tracts and involvement of the ipsilateral MLF. There is also involvement of the ipsilateral nerve VII nucleus or fascicle without pathology in the nerve V nucleus. This syndrome is produced by a lesion affecting both the medial and lateral structures of the dorsal part of the pons, usually from a stroke affecting the paramedian branches of the basilar artery.

Answer 159

Vascular: ischaemic stroke, SAH, basilar migraine Tumour: cerebellopontine angle tumours, metastatic disease, supratentorial tumour with mass effect and herniation with brain-stem compression Infection: basilar meningitis, enterovirus brain stem encephalitis or abscess of the posterior fossa Metabolic: central pontine myelinomysis (CPM), Wernicke's encephalopathy Immunological: myasthenia gravis, Miller-Fisher syndrome (MFS) and Bickerstaff's brain stem encephalitis (BBE) variants of Guillain-Barre syndrome Demyelinating disease: MS Trauma: vertebral artery dissection

Answer 160

Imaging -CT to rule out haemorrhage, tumour, abscess -MRI: more sensitive for stroke, demyelination and posterior fossa pathology -MR angiography for vertebrobasilar dissection Blood test -FBC, U+Es, LFTs, ESR (fasting) lipids and glucose -In younger patients or those without cardiovascular risk factors consider: lupus anticoagulant, anticardiolipin antibodies and thrombophilia screen Lumbar puncture -Autoantibodies associated with Guillain-Barre, oligoclonal bands or meningitis/ encephalitis

Answer 161

Cerebellar syndrome signs Nerve VI: lateral gaze palsy Nerve V: reduced sensation to light touch and pinprick CONTRALATERAL side Nerve VII: upper and lower facial weakness ipsilateral Reduced/ absent jaw jerk Additional: -Reduced corneal reflex

Answer 162

Vascular: cerebrovascular disease, chronic subdural haematoma Inherited: Huntington's, Wilson's, spinocerebellar ataxia Infectious: HIV, subacute sclerosing panencephalitis, Lyme disease, creutzfeldt-jakob disease Endocrine: chorea gravidarum, thyrotoxicosis, hypoparathyroidism Autoimmune: Sydenham's chorea, SLE, paraneoplastic Drugs: dopamine antagonists, levodopa, lamotrigine, methadone, lithium, COCP

Answer 163

Autosomal dominant neurodegenerative disease caused by expansion of a CAG trinucleotide repeat sequence within the gene that encodes the huntingtin protein. The abnormal huntingtin protein cross-links and is resistant to degradation. This is thought to interfere with noraml cellular function including mitochondrial metabolism. Neuronal loss is seen within the striatal areas of the putamen and caudate nucleus, in addition to changes within the cerebral cortex, globus pallidus, subthalamic nucleus and cerebellum. Clinical onset is usually between the ages of 30 and 50 years, but shows anticipation within families. Clinical features include chorea, ataxia, dystonia, personality changes, cognitive impairment and psychiatric symptoms. Death usually occurs within 15 years of disease onset. CAG repeat DNA testing can provide definitive diagnosis and has predictive potential for future offspring. MRI may show striatal atrophy.