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Neurological Disorders
- 2. Neurological disorders Nerve and muscle Multiple sclerosis Parkinson’s disease Stroke Epilepsy Headache and facial pain Neurological infections Head injury and tumour Spinal conditions Congenital disorders Dementia
- 3. Nerve and muscle Neuropathy Myaesthenia gravis Muscular dystrophy Myopathy
- 4. Neuropathy Mononeuropathy damage by trauma eg pressure Diabetics – nerves sensitive to pressure damage to blood supply (vasa nervorum) Vasculitic diseases Polyneuropathy Multiple peripheral nerves Distal, symmetrical pattern Lower limbs before upper limbs Causes - Inflammatory Metabolic toxic
- 5. Diabetic neuropathy 30 – 40% of diabetic patients in UK will develop significant nerve damage during their lives due to sub- optimal control Small fibre neuropathy Autonomic neuropathy Motor neuropathy Large fibre neuropathy Complications Callus and plantar neuropathic ulcers Infection
- 6. Diabetic neuropathy Acute painful neuropathies, radiculopathies and mononeuropathies Constant burning, parasthesiae, shooting pains Either symmetrical sensory stocking distribution (both feet) or single or adjacent nerve roots affecting: feet and/or legs or one or both thighs Often wasting May be weakness leading to falls ‘diabetic amyotrophy’/ proximal motor neuropathy due to radiculopathy or femoral neuropathy Contact discomfort (eg. clothes) Insomnia
- 7. Nerve compression Median nerve compression in carpal tunnel syndrome occurs in up to 10% patients Diagnosis difficult if severe neuropathy involving hands Requires nerve conduction studies Surgical decompression Ulnar nerve compression Usually at elbow (groove of medial epicondyle) Pain and paraesthesia along medial aspect of forearm and numbness in little and ring fingers May be wasting and weakness of ulnar-innervated small muscles of hand Common peroneal nerve neuropathy Nerve runs around head of fibula Presents with foot drop and may have wasting of tibialis anterior (weak foot dorsiflexion, toe extension and foot eversion)
- 8. Guillain-Barre syndrome Acute peripheral neuropathy affecting motor more than sensory nerves Usually follows infection Clinical features Symptoms over days/weeks Bilateral flaccid weakness Loss of tendon reflexes May affect muscles of respiration Burning pains and numbness
- 9. Myaesthenia gravis Autoimmune disorder Most patients have antibodies to acetylcholine receptors at neuromuscular junction Rare (annual incidence 0.4 in 100000) Clinical features Fatiguable ptosis Diplopia with limitation of eye movements Facial weakness Dysphagia Dysarthria Neck and limb muscle weakness (fatiguable) Can involve respiratory muscles
- 11. Myopathy Weakness of trunk and proximal limb muscles May be weakness of neck flexion and/or extension and muscles of facial expression Gait waddling
- 12. Inflammatory myopathies Polymyositis May occur in association with autoimmune connective tissue disorders Dermatomyositis Rash affects face and knuckles In minority of cases may have associated malignancy Inclusion body myositis Selective involvement of finger flexors and quadriceps
- 13. Dermatomyositis
- 14. Spinal root disease (radiculopathy) Cervical radiculopathy Prolapse of intervertebral disc may compress cervical nerve as exits Neck pain, muscle weakness, loss of tendon reflex, sensory impairment Drugs, physiotherapy, may need surgery Prolapsed lumbar intervertebral disc S1 root Low back pain and tenderness Pain down leg from buttock to ankle (sciatica) Wasting and weakness of gastrocnemius and soleus) S1 sensory loss Depressed ankle reflex L5 root Sciatic pain Foot drop (weakness extensor hallucis longus) L5 dermatomal sensory impairment
- 15. Spinal cord disease Inherited Hereditary spastic paraplegia Congenital Arnold-Chiari (develop syringomyelia) Trauma Disc protrusions, vertebral fracture Infection Epidural abscess Inflammation Post-viral transverse myelitis Neoplasm Vetebral metastases, cord tumour Vascular Spinal cord infarct, epidural haematoma Metabolic Subacute combined degeneration of the cord Degenerative Cord – motor neurone disease Spine – spondylosis with cord compression
- 16. Multiple sclerosis Most common chronic neurological disorder affecting young people In most typical form is characterised by lesions separated in time and space in central nervous system More common in temperate than tropical climate More common in females (M:F 1.5:1) Usual age of presentation is between ages of 20 – 40 Prevalence in UK of 1 in 1000
- 17. Multiple sclerosis Pathophysiology Affects white matter of brain and spinal cord Inflammatory cells present and myelin damaged Foci of inflammation and demyelination known as plaques Initially inflammation and oedema, followed by loss of myelin and then gliosis (scar tissue) Leads to reduction in conduction velocity Thought that environmental agent (eg. virus) triggers condition in genetically susceptible individual
- 18. Multiple sclerosis Presentation Visual disturbance Optic neuritis caused by inflammatory demyelination of one optic nerve Pain around one eye especially on eye movement Blurred vision which may progress to monocular blindness over days or weeks Loss of colour vision Limb weakness and sensory disturbance Lesion in spinal cord or cerebral hemispheres May have tingling sensation down back +/or limbs on neck flexion Symptoms may be worse after hot bath
- 19. Multiple sclerosis Course Relapsing-remitting After episode may be complete or near-complete resolution of symptoms (80% patients) After further episodes may be some residual disability Secondary progressive Steady progression without resolution Primary progressive 10% patients have this form of disease with no clear relapses and remissions
- 21. Multiple sclerosis Management If relapse severe enough to limit function – treat with steroids Symptom control Spasticity, fatigue, bladder disturbance, depression, pain Disease modifying therapy Interferon beta and glatiramer acetate
- 22. Parkinson’s disease Degenerative condition affecting extrapyramidal pathways (neurotransmitter dopamine) Affects dopaminergic neurones in substantia nigra of midbrain projecting to striatum of basal ganglia Symptoms occur when 60-80% nigrostriate neurones lost Mean age of onset 60 years Positive family history unusual but some gene mutations identified Clinical triad: Akinesia Rigidity Tremor
- 23. Parkinson’s disease Gait Flexed/stooped posture Difficulty defending balance Difficulty initiating walking (‘freezing’) Steps small and shuffling Festinant Normal arm swing lost Risk of falls
- 24. Posture
- 25. Parkinson’s disease Treatment Medical Levodopa (often in combination with DOPA decarboxylase inhibitor) Dopamine receptor agonists Selegiline (monoamine oxidase inhibitor type B) Entacapone (catechol-O-methyltransferase inhibitor) Amantadine Surgical Stereotactic thalamotomy (severe tremor) Pallidotomy (drug-induced dyskinesias)
- 26. Other movement disorders Chorea Randomly distributed, irregular timed muscle jerks Athetosis Inability to sustain body part in one position (eg fingers) Tremor Dystonia Tics Drug-induced Restless legs syndrome Stiff person syndrome
- 27. Stroke Third most common cause of death in developed world (annual incidence 2 per 1000 population) Rapidly developing symptoms or signs If resolve within 24 hours – transient ischaemic attack Mechanism Infarction thrombotic (thrombosis of arteries in CNS – degenerative, inflammatory, trauma) Embolic (cardiac valve disease, AF, recent MI) Haemorrhage
- 29. Stroke Cerebral arteries Anterior Middle posterior Clinical features Anterior circulation infarct Hemiplegia Hemianopia Cortical deficits (dysphasia, visuospatial loss) Lacunar infarct Pure motor stroke Pure sensory stroke Ataxic hemiparesis Posterior circulation infarct Brainstem lesion Homonymous hemianopia
- 30. Stroke Complications Pneumonia Deep venous thrombosis and pulmonary embolism Myocardial infarction 10% of patients with cerebral infarction die in first 30 days post- stroke 50% remain dependent Long-term disability Pressure sores, seizures, falls, spasticity, depression
- 31. Stroke Treatment If no haemorrhage start aspirin (+/- dipyridamole) Clopidogrel can be used in patients intolerant of aspirin Thrombolysis iv tissue plasminogen activator (alteplase) Within 3 hours of stroke onset Prevention Modify risk factors Smoking Diet (inc lower cholesterol) Blood pressure Diabetic control
- 32. Subarachnoid haemorrhage Causes Rupture of aneurysm Arteriovenous malformation Trauma Blood vessels weakened by infection (v rare) Features Sudden severe headache with photophobia, vomiting, neck stiffness Management 30-40% die within few days of onset Signif risk of rebleeding in 6 weeks after onset Nimodipine Aneurysm clipped or coiled
- 33. Intracerebral haemorrhage 10% of all strokes Large haematomas have poor prognosis (>50% mortality) – risk of hydrocephalus and coning Causes Hypertension Bleeding into tumours Trauma Blood disorders Blood vessel disorders
- 34. Epilepsy 1% of population suffer from epilepsy (recurring tendency to have seizures) Definition ‘ paroxysmal disorder in which cerebral cortical neuronal discharges result in intermittent, stereotyped attacks of altered consciousness, motor or sensory function, behaviour or emotion’ Classification Partial (simple or complex) Generalised (absence, myoclonic, tonic-clonic, tonic, atonic)
- 35. Partial seizures Simple partial seizure Arise in one cortical area (most commonly temporal lobes) Usually brief Discharge remains localised (eg focal motor, sensory or psychic symptoms) No loss of awareness Complex partial seizure Impairment of awareness during attack Frequently altered or ‘autonomic’ behaviour Reactive automatisms – may be able to do simple task Partial onset with secondary generalisation Epileptic discharge spreads to both cerebral hemispheres
- 36. Generalised seizures Absence Myoclonic Clonic Tonic Tonic-clonic Atonic
- 37. Tonic-clonic seizures May have prodrome or no warning Tonic phase – rigidity Often cyanosed Clonic phase – jerking (about 2 mins) May be incontinent or bite cheek/tongue Post-ictal confusion and tiredness
- 38. Conditions that mimic epilepsy Syncope Lasts <30 secs, pale, little/no confusion after event Cardiac arrhythmia, outflow obstruction Transient ischaemic attacks Usually last longer, rarely LOC Narcolepsy, cataplexy Metabolic disturbance Non-epileptic attacks
- 39. Headache and facial pain Headache Primary (uncertain cause) Migraine Cluster headache Tension-type headache Secondary (known cause) Raised intracranial pressure Idiopathic intracranial hypertension Meningeal irritation Giant cell arteritis Metabolic disturbances Facial pain Trigeminal neualgia Post-herpetic neuralgia
- 40. Migraine Unilateral headache Associated with nausea, vomiting, visual disturbance Typical onset teens and twenties Aura may be phase of vasoconstriction Then vasodilatation of extracerebral vessels may cause headache Treatment simple analgesia initially triptan (5HT1 R agonist) Prophylactic agents Propranolol pizotifen
- 41. Other headaches Cluster headache Unilateral headache Severe attacks pain around one eye Lasts 20 – 120 mins Usually recurs several times a day Pattern continues for days, weeks or months Then symptom-free for weeks-months Treatment Steroids initially, then methysergide, verapamil or pizotifen Tension-type headache/ chronic daily headache May be due to neck muscle contraction Amitriptyline may help
- 42. Facial pain Trigeminal neuralgia Compression of trigeminal sensory root Unilateral facial pain with trigger areas Treat with carbamazepine initially May require surgery Post-herpetic neuralgia Post-shingles of a branch of trigeminal nerve Persistent facial pain after rash healed May respond to amitriptyline, carbamazepine
- 43. Neurological infections Bacterial Meningitis Neisseria meningitidis, Haemophilus influenza, Streptococcus pneumoniae Brain abscess May complicate otitis media Raised intracranial pressure, focal signs, seizures Parameningeal infections Pus in epidural space Tuberculosis Syphilis Lyme disease Leprosy
- 44. Neurological infections Viral infections Viral meningitis Mumps, enterovirus Viral encephalitis Commonest cause Herpes simplex Headache, fever, reduced LOC, may have seizures Herpes zoster Dormant in dorsal root ganglion after chickenpox May reactivate as shingles Pain and itching of single or adjacent dermatomes, following by vesicular rash Retroviral infections Meningitic illness may occur at seroconversion Slowly progressive dementia Risks of immunocompromise (infection, tumour)
- 45. Head injury Damage at impact Contusion and laceration Diffuse axonal injury Secondary complications Haematoma Cerebral oedema Cerebral ischaemia Coning Infection Post-traumatic epilepsy
- 46. Brain tumour Intracranial neoplasms: Benign Usually extra-axial (eg. Meninges, cranial nerves) Compress brain Malignant Usually intra-axial (ie. brain parenchyma) Primary (>50% adult intracranial neoplasms) gliomas Secondary (15-20% adult intracranial neoplasms) metastases
- 47. Glioma
- 48. Brain tumour - management Surgery Benign tumours Complete excision may be possible -cure Malignant Histology Symptomatic Radiotherapy Gliomas – direct towards tumour Metastases – whole-brain radiation Drug treatment Anti-convulsants Dexamethasone Chemotherapy
- 49. Congenital disorders Cerebral palsy Spinal dysraphism Infantile hydrocephalus Cerebral structural disorders Intrauterine infection
- 50. Cerebral palsy Pre- or peri-natal insult Fetal hypoxia or infection Prematurity Traumatic delivery (intracranial haemorrhage) Clinical features: Spastic diplegia May have shortening and deformity of legs Spastic hemiplegia Associated with hemisensory deficits, learning difficulties and epilepsy Athetoid cerebral palsy Movement disorder develops in early childhood. Usually normal cognitive function
- 51. Spinal dysraphism (spina bifida) Failure of closure of neural tube during development Defect of overlying skin Abnormal development of bony structures Particularly affects lumbosacral region Myelomeningocoele Parts of spinal cord in meningeal sac Paraplegia and incontinence Spina bifida occulta Mildest form Failure of fusion of vertebral arches
- 52. Congenital disorders (continued) Infantile hydrocephalus Enlargement of head Delayed development, learning difficulties, seizures, spastic paraparesis Neurosurgery – eg. ventricular shunt Cerebral structural disorders May be incidental findings or may delay development Intrauterine infection Rubella Cataracts, hearing loss, learning difficulties, congenital heart disease Neurosyphilis Adult disease plus deafness, keratitis, deformed teeth
- 53. Neurogenetics Huntington’s disease Wilson’s disease Friedreich’s ataxia Hereditary spastic paraplegia Leber’s hereditary optic atrophy Hereditary spinal muscular atrophies Hereditary motor and sensory neuropathy (HMSN) Muscular dystrophies
- 54. Friedreich’s ataxia Autosomal recessive Trinucleotide repeat (GAA) Progressive ataxia, areflexia, extensor plantars Kyphoscoliosis Pes cavus Cardiomyopathy
- 55. Pes cavus
- 56. Muscular dystrophy Dystrophinopathies (mutations of X-linked gene for muscle protein dystrophin) Duchenne muscular dystrophy Boys develop proximal weakness in early childhood Difficulty rising from squatting position (use hands to ‘climb’ up legs – Gowers’ sign) Pseudohypertrophy of calf muscles (muscle replaced by fatty tissue) Progressive disability Becker muscular dystrophy Presents in adolescence or adult life Can have normal lifespan but progressive disability Limb-girdle dystrophies
- 57. Muscular dystrophy Myotonic dystrophy Autosomal dominant Abnormally sustained muscle contraction (myotonia) Bilateral ptosis Facial weakness Wasting and weakness of sternomastoids Cataracts Endocrine associations (diabetes mellitus, frontal balding, testicular atrophy) Facioscapulohumeral muscular dystrophy Autosomal dominant Bilateral facial weakness Winging of scapulae Weakness of spinal and pelvic muscles - waddling gait Lumbar lordosis
- 58. Hereditary motor and sensory neuropathy (HMSN) Inherited neuropathies Genetic defects discovered Incidence 1:2500 Clinical features: Atrophy of muscles supplied by peroneal nerves (‘inverted champagne-bottle legs’) Areflexia Pes cavus Claw toes Distal sensory loss and/or paraesthesia
- 59. Dementia Inherited Familial Alzheimer’s disease, Huntington’s disease Trauma Infection Syphilis, AIDS-related, Inflammation Multiple sclerosis Neoplasm Frontal tumours Vascular Multi-infarct dementia Metabolic hypothyroidism Drugs/toxins Barbiturates, alcohol Degenerative Alzheimer’s disease, Prion disease
- 60. Neurorehabilitation Aim ‘to restore patients to maximum capability and independence within limits set by their disability and their needs’ Multidisciplinary teams Physiotherapy Occupational therapy Speech therapy Neuropsychology Social work