Oxford Handbook NEUROLOGY PDF

Chapter 15 507 Neurology Reflexes and muscle power 508 Cranial nerve lesions 510 Neuropathy 512 Polyneuropathy 516 Speech problems 518 Walking problems 520 Other movement problems 522 Transient loss of consciousness 524 Assessment of headache 526 Migraine 528 Other h...

Chapter 15 507 Neurology Reflexes and muscle power 508 Cranial nerve lesions 510 Neuropathy 512 Polyneuropathy 516 Speech problems 518 Walking problems 520 Other movement problems 522 Transient loss of consciousness 524 Assessment of headache 526 Migraine 528 Other headaches and facial pain 530 Raised intracranial pressure 532 Acute stroke and intracranial bleeds 534 Prevention of stroke 536 Parkinsonism and Parkinson’s disease 538 Multiple sclerosis 540 Motor neurone disease and CJD 542 Spinal cord conditions 544 Epilepsy 546 Management of epilepsy 548 Muscle disorders 550 Other neurological syndromes 552 Neurological rehabilitation problems 554 Neurological assessment scales 556 508 508 Chapter 15 Neurology Reflexes and muscle power Reflexes Reflexes are automatic responses. The reflex arc goes from the stimulus via a sensory nerve to the spinal cord and then back along a motor nerve to cause muscle contraction, without brain involvement. Key reflexes Table 15.2. Record whether absent, present with reinforce- ment, normal, or brisk ± clonus. Absent or d reflex Implies a breach in the reflex arc at: Sensory nerve or root, e.g. neuropathy, spondylosis Anterior horn cell, e.g. MND, polio Motor nerve or root, e.g. neuropathy, spondylosis Nerve endings, e.g. myasthenia gravis, or Muscle, e.g. myopathy i reflex Implies lack of higher control—​an upper motor neuron (UMN) lesion, e.g. post stroke Clonus Rhythmic involuntary muscle contraction due to abrupt tendon stretching, e.g. by dorsiflexing the ankle—​associated with an UMN lesion. Reinforcement Method of accentuating reflexes. Use if a reflex seems absent. Ask the patient to clench their teeth (to reinforce upper limb re- flexes) or clench their hands and pull in opposite directions (to accentuate lower limb reflexes). This effect only lasts 71sec, so ask the patient to per- form the manoeuvre simultaneously with the tap from the tendon hammer. Testing for muscle power Table 15.1 Table 15.1 Quick screening test for muscle power Joint Movement Nerve roots Joint Movement Nerve roots Shoulder Abduction C5, C6 Hip Flexion L1–​3 Adduction C6–​8 Extension L4, L5, S1 Elbow Flexion C5, C6 Knee Flexion L5, S1 Extension C7, C8 Extension L3, L4 Wrist Flexion C7, C8 Ankle Dorsiflexion L4, L5 Extension C6, C7 Plantarflexion S1, S2 Fingers Flexion C8 Toes Extensors L5, S1 Extension C7 Flexors S2 Abduction T1 0 Test proximal muscle power by asking the patient to sit from lying, pull you towards him/​ herself or rise from squatting.  Reflexes and muscle power 509 Table 15.2 Key reflexes and nerve roots involved Reflex Test Expected result Nerve roots Jaw Ask the patient to let his mouth Contraction of Vth cranial open slightly. Place a finger on masseters and closure nerve the chin and tap the finger with of mouth a tendon hammer Gag Touch the back of the patient’s Contraction of the IXth/​Xth pharynx on each side with soft palate cranial a spatula. If absent, ask the nerve patient whether he can feel the spatula—​if he can, then Xth nerve palsy Biceps Tap a finger placed on the biceps Contraction of the C5, C6 tendon by letting the tendon biceps + elbow flexion hammer fall on it Supinator Tap the lower end of the radius Contraction of C5, C6 just above the wrist with the brachioradialis + tendon hammer elbow flexion Triceps Support elbow in flexion with Contraction of C7, C8 one hand. Tap the triceps triceps + elbow tendon with a tendon hammer extension held in the other hand Knee Support the knees so relaxed Contraction of L3, L4 and slightly bent. Let the quadriceps + tendon hammer fall onto the extension of knee infrapatellar tendon Ankle Externally rotate the thigh and Contraction of S1 flex the knee. Let the tendon gastrocnemius + hammer fall onto the Achilles plantar flexion of the tendon ankle Abdominal Lightly stroke the abdominal wall Abdominal wall T7–​T12 diagonally towards the umbilicus contractions. When in each of the four abdominal absent can be normal quadrants or indicate UMN or LMN lesion Cremaster ♂ patients only. Pre-​warn the Contraction of L1 patient. Stroke the superior and cremasteric muscle medial aspect of the thigh in a l raising of scrotum downwards direction and testis on the side stroked. Absent in UMN and LMN lesions Anal Scratch the perianal skin Reflex contraction of S4, S5 the external sphincter. Absent in UMN and LMN lesions Plantar Pre-​warn the patient. Run a Flexion of big toe (if S1 blunt object up the lateral side >1y old). Extension of the sole of the foot, curving implies UMN lesion. medially before the MTP joints 051 510 Chapter 15 Neurology Cranial nerve lesions Cranial nerves may be disrupted at any point from the nerve nucleus in the brainstem to the point of innervation. Table 15.3 lists clinical tests for each nerve; Figure 15.1 maps cutaneous innervation of the head/​neck. Think systematically about the level of the lesion. Potential sites: Muscle Neuromuscular junction Along the course of the nerve outside the brainstem Within the brainstem Any cranial nerve may be affected by DM, MS, tumours, sarcoid, vasculitis, or syphilis and >1 nerve may be affected by a lesion. Refer according to cause (usually to ENT, ophthalmology, or neurology). Table 15.3 Cranial nerve lesions and their causes Nerve Clinical test Causes I Smell—​test each nostril for the Trauma, frontal lobe tumour, Olfactory ability to differentiate different meningitis smells II Acuity—​Snellen chart Monocular blindness—​lesion in one Optic Visual fields—​compare with your eye or optic nerve (e.g. MS, giant own visual fields by standing cell arteritis) directly in front of the patient with your head at the same level as theirs Pupils—​size, shape, reaction to Bitemporal hemianopia—​optic light, and accommodation chiasm compression, e.g. pituitary Ophthalmoscopy—​darken room, adenoma, craniopharyngioma, view optic disc (?pale, swollen), internal carotid artery aneurysm follow each vessel outwards Homonymous hemianopia—​affects to view each quadrant, track half the visual field on the side outwards to check lens and cornea opposite the lesion. Caused by lesion beyond the optic chiasm, e.g. stroke, abscess, tumour III Ptosis, large pupil, eye looks down-​ DM, giant cell arteritis, syphilis, and outwards posterior communicating artery 0 Diplopia from a IIIrd nerve aneurysm, idiopathic lesion may cause nystagmus If pupil normal size, results from DM or other vascular cause IV Diplopia on looking down and in; Rare in isolation. May occur as a may compensate by tilting head result of trauma to the orbit V Motor—​open mouth. Jaw deviates Sensory—​trigeminal neuralgia Trigeminal to the side of the lesion (E p. 531); herpes zoster, Sensory—​corneal reflex lost first. nasopharyngeal carcinoma Check all 3 divisions Motor—​bulbar palsy (E p. 519), acoustic neuroma VI Horizontal diplopia on looking MS, pontine CVA, i ICP outwards (Continued)  Cranial nerve lesions 511 Table 15.3 (Contd.) Nerve Clinical test Causes VII Causes facial weakness and droop LMN—​Bell’s palsy, polio, Facial Ask to raise eyebrows, show teeth, otitis media, skull fracture, puff out cheeks. cerebellopontine angle tumour, LMN lesion: all one side of face parotid tumour, herpes zoster affected (Ramsay Hunt syndrome E p. 512) UMN lesion: lower two-​thirds face affected only UMN—​stroke, tumour VIII Auditory—​ask to repeat a number Noise, Paget’s disease, Ménière’s Vestibulo-​ whispered in 1 ear while you block disease (E p. 929), herpes auditory the other zoster, acoustic neuroma, Vestibular—​ask about balance, brainstem CVA, drugs (e.g. check for nystagmus (E furosemide) p. 928)—​ask patient to fix on finger 0.75 m away—​check gaze upwards, downwards, lateral (both directions), keeping finger 1 peripheral nerve is involved, the term mononeuritis multiplex is used. Causes: DM, sarcoid, cancer, PAN, amyloid, leprosy. Common mononeuropathies Table 15.4 Bell’s palsy Facial palsy without other signs. Unknown cause—​possibly viral. Peak age: 10–​40y. ♂ = ♀. Lifetime incidence: 71 in 65. Affects left and right side of the face equally often. Usually sudden onset—​may be pre- ceded by pain around the ear. Other possible symptoms: facial numbness; d noise tolerance; disturbed taste on the anterior part of the tongue. Management 770% recover completely; 13% have insignificant sequelae; the remainder have permanent deficit. 85% improve in 1 of V1–​V3 followed by a −ve T wave—​may be transient)—​E p. 239 Ventricular pre-​excitation (delta wave—​slurring slow rise of the initial portion of the QRS complex—​seen in WPW syndrome)—​E p. 239 Inappropriate significant bradycardia Pathological Q waves Left or right ventricular hypertrophy Sustained atrial arrhythmia Abnormal T-​wave inversion Paced rhythm ManagementN Treat any underlying cause identified. Admit If any residual neurological deficit to exclude stroke.  Transient loss of consciousness 525 Refer to cardiology for assessment in 1 type of headache? Take a separate history for each Time When did the headaches start? How often do they happen? Is there a pattern (e.g. constant, episodic, daily)? How long do they last? Why is the patient consulting now? A headache diary over >8wk may be useful if longstanding headaches Character Nature/​quality and site of pain. Associated symptoms, e.g. nausea/​vomiting, visual or neurological symptoms Cause Predisposing and/​or trigger factors; aggravating and/​or relieving factors; relationship to menstrual cycle; family history Response Details of medication used (type, dose, frequency, timing). What does the patient do, e.g. can the patient continue work? Health between attacks Other medical history. Well between attacks? Patient’s anxieties and concerns Examination In acute, severe headache, examine for fever and purpuric skin rash. In all cases, check BP, brief neurological examination including fundi, visual acuity, and gait, palpation of the temporal region/​sinuses for tenderness, and examination of the neck. In young children, measure head circumference and plot on a centile chart. Refer To an appropriate specialist team. E = Emergency same-​day as- sessment; U = Urgent; S = Soon; R = Routine. Fever and worsening headache ± purpuric rash/​meningism—​E d consciousness and/​or papilloedema—​E Thunderclap headache (reaching peak intensity in 50y, scalp tenderness, i ESR, E p. 498 headache arteritis rarely d visual acuity Chronic Tension-type Band around the head, stress, E p. 530 headache headache low mood Cervicogenic Unilateral or bilateral; band E p. 448 headache from neck to forehead; scalp tenderness Medication Rebound headache on E p. 531 overuse stopping analgesics i intracranial Worse on waking/​sneezing, d E p. 532 pressure pulse, i BP, neurological signs Paget’s disease >40y, bowed tibia, i alk phos E p. 478 528 528 Chapter 15 Neurology Migraine Migraine affects 15% of the UK population. ♂:♀ 81:3. 1 in 3 experience significant disability. Caused by disturbance of cerebral blood flow under the influence of serotonin. Aura Occurs with or without headache. Symptoms arise over ≥5min and last 5–​60min before resolving completely. Diagnose if: Visual symptoms, e.g. flickering lights, spots, lines; partial loss of vision Sensory symptoms, e.g. numbness; paraesthesia, and/​or Speech disturbance Atypical aura Consider referral for further investigation if: motor weakness; double vision; visual symptoms affecting only one eye; poor balance; or d level of consciousness Migraine headache Moderate to severe unilateral or bilateral throbbing/​pulsating headache that lasts 4–​72h (1–​72h in children) and pre- vents usual activities. May occur with or without aura and be associated with nausea/​vomiting ± i sensitivity to light/​noise. Episodic Occurs on 3mo History, examination, and differential diagnosis E p. 526 Management of an acute attackN Combination therapy with: Triptan (e.g. sumatriptan 50–​100mg po)—​choice depends on cost. Not effective if taken before the headache develops. Stops 70–​85% attacks. Start with lowest dose and i as needed. If consistently ineffective try an alternative triptan. Consider nasal triptan as first line if aged 12–​17y NSAID (e.g. naproxen 500mg bd) or paracetamol (1g qds) ± antiemetic (e.g. prochlorperazine 5mg, metoclopramide 10mg, or domperidone 10–​20mg)—​even if no nausea/​vomiting If oral preparations are ineffective/​not tolerated, offer metoclopramide 10mg PR or buccal prochlorperazine 3–​6mg and consider adding a non-​ oral NSAID (e.g. diclofenac 100mg PR) or triptan (e.g. sumatriptan 20mg nasal spray or 6mg sc). Do not offer ergots or opioids for the acute treatment of migraine. Treatment of recurrence within the same attack Repeat symptomatic treat- ments within their dose limitations—​pre-​emptively if recurrence is usual/​ expected. If using triptans, a 2nd dose may be effective, but repeated dosing can cause rebound headache. Naratriptan and eletriptan are associated with relatively low recurrence rates. Management of chronic migraine Aims to control symptoms and minimize impact on the patient’s life. Cure is not a realistic aim. Trigger factors Half have a trigger for their migraine. Consider: Psychological factors Stress/​relief of stress; anxiety/​depression; extreme emotions, e.g. anger or grief Environmental factors Loud noise, bright/​flickering lights, strong perfume, stuffy atmosphere, VDUs, strong winds, extreme heat/​cold  Migraine 529 Food factors Lack of food/​infrequent meals; foods containing monosodium glutamate, caffeine, and tyramine; specific foods, e.g. chocolate, citrus fruits, cheese; alcohol, especially red wine Sleep Overtiredness (physical/​mental); changes in sleep patterns (e.g. late nights, weekend lie-​in, shift work, holidays); long-​distance travel Health factors Hormonal changes (e.g. monthly periods, COC pill, HRT, the menopause);i BP; toothache or pain in the eyes, sinuses, or neck; unaccustomed physical activity Assessing severity Assessment scales, e.g. Migraine Disability Assessment Score (MIDAS—​E p. 557) can be useful in assessing impact of symptoms on daily life and monitoring response to treatment. General measures Reassure. Instruct about management of acute attacks. A diary can be used to identify trigger factors, assess headache frequency, severity, medication usage/​overusage, and response to treatment. Avoid trigger factors where possible. Give advice on relaxation techniques and stress management. 0 Do not offer COC to women with migraine, espe- cially if aura (Box 21.3, E p. 731). ProphylaxisN Consider if ≥4 attacks/​mo or severe attacks. d attacks by 750%. Try a drug for 2mo before deeming it ineffective. If effective, con- tinue for 6mo then consider d the dose slowly and stopping. 1st line Propranolol S/​R 80–​160 mg od/​bd or topiramate 25–​50mg od/​bd—​start at low dose and i dose every 2–​4wk; 0 topiramate is teratogenic and may d effectiveness of hormonal contraception 2nd line Gabapentin (up to 1200mg/​d in divided doses) or acupuncture (up to 10 sessions over 5–​8wk) 3rd line Consider referral—​botulinum type A toxin may be helpful for patients who have chronic migraine, do not have medication overuse headache, and have not responded to ≥3 different prophylactic drugsN Alternative therapies Riboflavin 400mg od may d frequency/​intensity of headachesN; feverfew 200mg/​d—​may d symptoms after 6wk useC. Menstrual migraineN Suspect if migraine occurs from 2d before to 3d after start of period on at least 2 out of 3 consecutive months (use headache diary). If predictable menstrual-​related migraine that does not respond to standard acute treatment, consider frovatriptan (2.5mg bd) or zolmitriptan (2.5 mg bd/​tds) on the days that migraine is expected. Referral E p. 526 0 >1 type of headache may be present—​50% migraine sufferers de- velop tension-​type headache. Consider each separately. Further information NICE (2012, updated 2015) Headaches in young people and adults. M www.nice.org.uk/​guidance/​cg150 NICE (2012) Migraine (chronic)—​botulinum toxin type A. M www.nice. org.uk/​guidance/​ta260 Patient information and support Migraine Action Association F 08456 011033 M www.migraine.org.uk Migraine Trust F 020 7631 6970 M www.migrainetrust.org 530 530 Chapter 15 Neurology Other headaches and facial pain Headache: assessment and differential diagnosis E p. 526 Migraine E p. 528 Chronic daily headache Prevalence 4%. Defined as any headache that occurs >15d/​mo. Common causes: tension-​type headache, cervicogenic headache (E p. 448), medication overuse headache, migraine, errors of refraction (usually headache is mild, frontal, in the eyes themselves, and ab- sent on waking). Treat the cause (may be >1). Tension-type headacheN Associated with stress and anxiety and/​or functional or structural abnormalities of the head or neck. Prevalence 82%. ♀:♂ 82:1. Symptoms begin aged 200micromol/​L)—​1 point Stroke history—​1 point Prior major bleed or predisposition to bleeding—​1 point Labile INR (24h, and persist over days/​weeks before improving. Although usually presents with a single symptom, history may reveal other episodes that have gone unheralded. Isolated neurological deficits are never diagnostic. The hallmark of MS is a series of neurological deficits distributed in time and space not attributable to other causes. Common features Visual symptoms d vision, blurring or double vision; pain on eye movement (optic neuritis) Sensory/​motor disturbance, e.g. numbness, tingling; Lhermitte’s symptom (altered sensation travelling down back ± into limbs when bending the neck forwards); transverse myelitis (E p. 544) Problems with balance, unsteadiness, coordination, or clumsiness Problems with speech (e.g. slurring, slow) Pain (e.g. trigeminal neuralgia) Bladder/​bowel problems (e.g. frequency, urgency, incontinence) Sexual dysfunction (e.g. erectile dysfunction) Non-​specific symptoms—​fatigue, depression, cognitive changes (e.g. loss of concentration, memory problems) 0 Symptoms may be worsened by heat or exercise. Prognosis Benign MS (10%) Retrospective diagnosis. The patient has a few mild attacks and then complete recovery. There is no deterioration over time and no permanent disability Relapsing–​remitting MS (RRMS) 85% patients. Episodes of sudden i in neurological symptoms or development of new neurological symptoms with virtually complete recovery after 4–​6wk. With time remissions become less complete and residual disability accumulates Secondary progressive MS (SPMS) After 715y, 65% of patients with relapsing–​remitting disease begin a continuous downward progression which may also include acute relapses Primary progressive MS (PPMS) 10% patients. Steady progression from the outset with increasing disability Management If suspected, exclude other causesN—​check FBC, ESR/​ CRP, liver and renal function, Ca2+, glucose/​HbA1c, TFTs, vitamin B12, and HIV serology. Refer to neurology for confirmation of diagnosis and support from the specialist neurological rehabilitation team. Urgency of referral de- pends on clinical circumstances. Acute relapsesN Refer for specialist review. First-​line treatment is oral methylprednisolone 0.5g daily for 5d.  Multiple sclerosis 541 Disease-​modifying drugs d frequency and/​or severity of relapses by 730% and slow course of the disease (Box 15.2). All work through immune modulation ± anti-​inflammatory effects. Prescription must be consultant led and monitored under the NHS risk sharing scheme. Box 15.2 Disease-​modifying drugs for MS Interferon beta Natalizumab Peginterferon-​beta1a Teriflunomide Glatiramer acetate Dimethyl fumarate Fingolimod Alemtuzumab Eligibility criteria Treatment should start as soon as possible after diagnosis—​even if just a single clinical episode with radiological evidence of other lesions—​if the patient is still able to walk with two crutches (Expanded Disability Status Scale (EDSS) of 7, may become eligible if recovery occurs. Criteria to stop treatment After ≥6mo, there is no d in frequency/​severity of relapses compared to the pre-​treatment phase Intolerable adverse effects EDSS falls to 6mo due to MS Confirmed secondary progressive disease with i in disability over a 12mo period in the absence of relapses Depending on the reason for stopping, patients may be able to try another disease-​modifying treatment. InformationN Offer all patients information about MS and local/​national support groups. Encourage exercise; advise not to smoke (may i MS progression) Discuss annual flu vaccination—​eligible but may be contraindicated with some MS disease-​modifying drugs and rarely triggers relapse For ♀ of childbearing age, inform that relapse rates d in pregnancy; may i for 3–​4mo afterwards; but overall does not alter prognosis Driving and MS All drivers must inform the DVLA. Driving can continue as long as safe vehicle control. Group 1 licence—​may be restricted to cars with certain controls. Group 2 licence—​annual review; licence is revoked if MS is progressive or sustained disability. Management of symptoms and disability Liaise closely with the specialist neurological rehabilitation team. Screening for depression E p. 173 General principles of rehabilitation E p. 196 Common neurological rehabilitation problems E p. 554 Further information NICE (2014, updated 2019) Multiple sclerosis in adults: management. M www.nice.org.uk/​guidance/​cg186 Patient advice and support MS Society F 0808 800 8000 M www.mssociety.org.uk 542 542 Chapter 15 Neurology Motor neurone disease and CJD Motor neurone disease (MND) Is a degenerative disorder of un- known cause affecting motor neurons in the spinal cord, brainstem and motor cortex. Prevalence in the UK is 74.5/​100,000; ♂:♀ 83:2. Peak age of onset 860y. 10% have a FH. There is never any sensory loss. Patterns of disease There are 3 recognized patterns of MND: Amyotrophic lateral sclerosis (ALS) (50%) Combined lower motor neuron (LMN) wasting and upper motor neuron (UMN) hyperreflexia Progressive muscular atrophy (25%) Anterior horn cell lesions affecting distal before proximal muscles. Better prognosis than ALS Progressive bulbar palsy (25%) Loss of function of brainstem motor nuclei (LMN lesions) resulting in weakness of the tongue, muscles of chewing/​swallowing, and facial muscles Clinical picture Combination of progressive UMN and/​or LMN signs af- fecting >1 limb or a limb and the bulbar muscles. May initially present as isolated/​unexplained symptoms, including: Loss of dexterity, falls, or trips Speech/​swallowing problems; tongue fasciculations Muscle problems, e.g. weakness, wasting, twitching, cramps, stiffness Breathing problems, e.g. shortness of breath Effects of d respiratory function, e.g. fatigue, daytime sleepiness, early morning sleepiness or shortness of breath when lying down Cognitive features, e.g. behavioural changes, emotional lability, frontotemporal dementia 0 MND never affects eye movements (cranial nerves III, IV, VI). Management Refer to neurology for exclusion of other causes of symp- toms and confirmation of diagnosis. MND is incurable and progressive. Death usually results from ventilatory failure 3–​5y after diagnosis. Prognostic factors Features at diagnosis associated with d survival: Poor respiratory function Older age Poor functioning in activities of daily living Weight d Speech and swallowing problems (bulbar presentation) Shorter time from first developing symptoms to time of diagnosis Disease-​modifying therapy Should always be specialist initiated. Riluzole (50mg bd) is the only drug treatment licensed in the UK; it may extend life or time to mechanical ventilation for patients with ALS and slow functional decline. Monitoring of liver function is essential—​monthly for the 1st 3 mo; then 3 monthly for 9mo; then annually thereafter. Support Involve relevant agencies early, e.g. DN, social services, carer groups, self-​help groups; apply for all relevant benefits (E pp. 104–9). Screen for depression (E p. 173). Regular review to help overcome any new problems encountered is helpful for patients and carers. Discuss the future and patients’ wishes for the time when they become incapacitated with patients and carer(s).  Motor neurone disease and CJD 543 Symptom control A multidisciplinary team approach is essential. Specific interventions: Cramps Quinine (first line); alternatives—​baclofen, tizanidine, dantrolene, or gabapentin Stiffness/​spasticity Baclofen, tizanidine, dantrolene, or gabapentin Drooling Propantheline 15–​30mg tds po or amitriptyline 25–​50mg tds; glycopyrronium bromide (if cognitive impairment); referral for botulinum toxin A Dysphagia Blend food, discuss nasogastric tubes/​PEG (E p. 1018) Depression Common—​reassess support, consider drug treatment and/​ or counselling Respiratory failure Discuss tracheostomy/​ventilation—​weigh pros and cons of prolongation of life versus prolongation of discomfort Palliative care E p. 1011 Driving All drivers must inform the DVLA. Driving can continue as long as safe vehicle control. Group 1 licence—​may be restricted to cars with cer- tain controls. Group 2 licence—​annual review; licence is revoked if MND is progressive or sustained disability. Creutzfeldt–​Jakob disease (CJD) (human spongiform encephalop- athy) Fatal, degenerative ‘prion’ brain disease. Types: Sporadic or classical Most common form in the UK (850 cases/​y). Rare 25y in some cases). Clinical features vary according to the areas of brain most affected but are always rapidly pro- gressive. Common features: personality change; psychiatric symptoms; cog- nitive impairment; neurological deficits (sensory and motor deficits, ataxia); myoclonic jerks, chorea or dystonia; difficulty with communication, mobility, swallowing, and continence; coma and death. Management There is no simple diagnostic test and often families feel frus- trated by early misdiagnosis. Refer to neurologist if suspected. Treatment is supportive. Palliative care: E p. 1011. General principles of rehabilitation E p. 196 Common neurological rehabilitation problems E p. 554 Further information NICE (2016, updated 2019) Motor neurone disease: assessment and man- agement. M www.nice.org.uk/​guidance/​ng42 Patient advice and support Brain & Spine Foundation F 0808 808 1000 M www.brainandspine.org.uk Motor Neurone Disease Association F 0808 802 6262 M www. mndassociation.org 54 544 Chapter 15 Neurology Spinal cord conditions Spinal cord injury tends to affect young people, especially young men. It is devastating and the GP and primary care team are a vital part of the ongoing support network. Causes: trauma (42% falls; 37% RTAs), herniated disc, transverse myelitis, tumour, abscess. Quadriplegia and tetraplegia Caused by spinal cord injury above the 1st thoracic vertebra. Usually results in paralysis of all four limbs, weakened breathing, and an inability to cough and clear the chest. Paraplegia Occurs when the level of injury is below the 1st thoracic nerve. Disability can vary from the impairment of leg movement, to com- plete paralysis of the legs and abdomen up to the nipple line. Paraplegics have full use of their arms and hands. Incomplete spinal cord injuries Anterior cord syndrome Damage is towards the front of the spinal cord, leaving the patient with loss or d ability to sense pain, temperature, and touch sensations below the level of injury. Pressure and joint sensation may be preserved Central cord syndrome Damage is in the centre of the spinal cord. Typically results in loss of function in the arms, but preservation of some leg movement ± some control of bladder/​bowel function Posterior cord syndrome Damage is towards the back of the spinal cord. Typically leaves patients with good muscle power, pain, and temperature sensation, but difficulty coordinating limb movements Brown-​Séquard syndrome Damage is limited to 1 side of the spinal cord resulting in loss or d movement on the injured side but preserved pain and temperature sensation, and normal movement on the uninjured side but loss or d in pain and temperature sensation Cauda equina lesion The spinal cord ends at L1/​L2 at which point a bundle of nerves travels downwards through the lumbar and sacral verte- brae. Injury to these nerves causes partial or complete loss of movement and sensation. There may be some recovery of function with time. Transverse myelitis Inflammation of the spinal cord at a single level. Symptoms develop rapidly over days/​weeks and include limb weakness, sensory disturbance, bowel and bladder disturbance, back pain, and ra- dicular pain. Recovery generally begins in 21y old having their first fit have cerebral pathology (10% if aged 45–​55y). Transient loss of consciousness E p. 524 Epilepsy in children Ep. 876 Management of a fitting patient/​status epilepticus E p. 1080 Management after first fit 60% of adults who have one fit will never have another (90% if EEG is normal). Refer all patients with a first suspected seizure for assessment by a neurologist with training and expertise in epilepsy urgently to exclude underlying causes (e.g. tumour) and receive clear guidance on medica- tion, work, and drivingN. Classification of seizure types Is important, as these have implica- tions for management and prognosis: Partial seizures Limited to one area of the brain only. Termed ‘simple’ if no impairment of consciousness, and ‘complex’ if consciousness is impaired. Partial seizures may become generalized Generalized seizures Whole brain is involved. Consciousness is usually but not always impaired. 6 major types: tonic–​clonic (grand mal); absence (petit mal); myoclonic; tonic; clonic; and atonic 0 Some people have seizures that cannot be classified in this way. Todd’s palsy Focal CNS signs (e.g. hemiplegia) following an epileptic seizure. The patient seems to have had a stroke but recovers in two-​thirds of people with epilepsy. The most common causes are: Cerebrovascular disease Drugs, alcohol, or other toxic causes Cerebral tumours Head trauma (including surgery) Genetic, congenital, or Post-​infective causes (e.g. meningitis, hereditary conditions encephalitis) Assessment Table 15.10 Screening for depression E p. 173 Long-​term management of epilepsy E p. 548 Epilepsy and pregnancy E p. 807 Driving and epilepsy E p. 548 Mortality Death rate is i ×2–​3. Deaths are related to underlying condi- tion, accidents, SUDEP, or status epilepticus. Sudden unexplained death in epilepsy (SUDEP) Probably due to central re- spiratory arrest during a seizure. d risk by optimizing seizure control and being aware of potential consequences of night seizures.  Epilepsy 547 Table 15.10 Summary of points to cover during assessment History Background Previous head injury Stroke Alcohol/​drug abuse Febrile convulsions Meningitis or encephalitis Family history of epilepsy Provoking factors Sleep deprivation  Flashing lights Alcohol withdrawal Prodrome/​aura Prodrome—​precedes fit. May be a change in mood or behaviour noticed by the patient or others Aura—​part of the seizure that precedes other manifestations—​odd sensations, e.g. déjà-​vu (odd feeling of having experienced that time before), strange smells, rising abdominal sensation, flashing lights Features of the Eye witness report: if available—​colour of the patient, attack movement, length of fit, circumstances, after-​effects Memories of the patient: of the event and first memories after the event, attack frequency, relationship to sleep, menses etc. Residual symptoms Bitten tongue after the attack Incontinence of urine/​faeces (not specific for epilepsy) Confusion  Headache Aching limbs or temporary weakness of limbs (Todd’s palsy) Examination Neurological Fever, photophobia, neck stiffness or petechial rash? examination Any residual focal neurology Signs of i ICP (E p. 532) General BP, heart sounds, heart rhythm and rate examination Signs of systemic illness Investigations ECG (first fit only) Capillary blood glucose Blood: U&E, Cr, eGFR, LFTs, Ca2+, FBC, ESR/​CRP, HIV Differential diagnosis Syncope (simple or situational) Normal phenomenon (e.g. déja-​vu)  Psychogenic non-​epileptic attacks  Cardiac disorders, e.g. arrhythmia, (pseudo-​seizures) aortic stenosis, HOCM Tics TIA Panic attack Migrainous aura  Hypoglycaemia Avoid prescribing sodium valproate to girls of childbearing age. If es- sential, ensure a pregnancy prevention plan is in place and that information is provided about potential teratogenic effects both verbally and in writing. Further information NICE (2012, updated 2018) Epilepsies: diagnosis and management. M www.nice.org.uk/​guidance/​cg137 Patient advice and support Epilepsy Action F 0808 800 5050. M www.epilepsy.org.uk 548 548 Chapter 15 Neurology Management of epilepsy Education Epilepsy is a diagnosis causing alarm and fear. How much does the patient/​family understand about epilepsy? Acknowledge distress and answer questions. Provide information on: What epilepsy is and support available locally/​nationally What to expect—​fits are controlled with drugs in 80%; concordance with medication; when drug withdrawal may be considered What to do during an attack Work—​inform employer. Do not work at heights or with/​near dangerous machinery Avoiding risks—​avoid cycling in traffic; only swim if lifeguard present Driving Inform the DVLA and motor insurance company Single, unprovoked seizure Group 1—​stop driving 6mo; group 2—​ licence restored if no seizures for >5y off medication Epilepsy or multiple unprovoked seizures Group 1—​stop driving until fit-​free for >1y; group 2—​licence restored if seizure-​free for >10y off antiepileptic medication Drugs Table 15.11. Treatment usually starts after the 2nd seizure. Drug choice is a specialist decision. 0 Patients can claim free prescriptions. Withdrawal of drug therapy Consider if fit-​free for 2–​3y. Decision to stop must be the patient’s. Balance problems/​inconvenience of drug-​ taking against risks of fits. Refer to neurology for supervision of drug with- drawal. If adult with grand mal epilepsy, 59% stay fit free for 2y. Seizure recurrence is more likely if generalized tonic–​clonic seizures; myo- clonic epilepsy or infantile spasms; taking >1 drug for epilepsy; ≥1 seizure after starting treatment; duration of treatment >10y; fit free 2y, discuss withdrawing medication. For ♀ of reproductive age give contraception (E p. 728)/​pre-​conception (E p. 807) advice. Re-​refer For review by a neurologist if: Control is poor or drugs are causing unacceptable side effects Seizures have continued despite medication for >2y or on 2 drugs Pointers to a previously unsuspected cause for the fits appear Concurrent illness (physical or psychiatric) complicates management For pre-​conceptual advice or to discuss withdrawal of medication Table 15.11 Commonly used drugs in epilepsy. Stress the importance of concordance. Principles of epilepsy medication: start at a low dose; i dose until fits are controlled or side effects occur. Use monotherapy—​2 drugs i toxicity and side effects and offers no benefits over monotherapy for 90% patients. Prescribe by brand name—​changing brand carries 10% risk of worsening of seizure control Ethosuximide Sodium valproate1 Carbamazepine Lamotrigine Clonazepam Type of Absence     epilepsy Myoclonic   Tonic–​clonic    Partial ± 2°    generalized Adult starting dose 500mg od 300mg bd 100–​200mg od or bd 25mg od for 2wk3 1mg nocte for 4d Incremental dose 250mg/​d at 200mg/​d at 3 day intervals 100mg/​d at weekly From starting dose to i according to response over weekly intervals intervals 50mg od for 2wk then i by 2–​4wk 50mg/​d at weekly intervals Usual daily dose 1–​1.5g od 500mg–​1g bd 200–​1200mg 100–​200mg 4–​8mg nocte Common/​important Blood dyscrasias5, Teratogenic1 Blood dyscrasias5, Blood dyscrasias5, rash, Drowsiness/​fatigue, amnesia/​ side effects sedation, nausea, Pancreatitis, liver toxicity4, rash, liver toxicity4, fever, influenza-​like confusion/​restlessness, muscle vomiting, dizziness,blood dyscrasias5, sedation, nausea, sedation, symptoms, drowsiness hypotonia, coordination ataxia tremor, weight i, hair diplopia, dizziness, fluid or worsening of seizure problems, dependence and thinning, ankle swelling retention, d sodium2 control withdrawal 1. Teratogenic—​avoid prescribing to ♀ of childbearing age. If essential, ensure the ♀ is fully informed of potential risks and has reliable contraception—​E p. 728. 2. Monitor U&E at regular review. 3. Starting dose is different if used in association with other epileptics—​see BNF. 4. Warn about symptoms of liver disease. Check LFTs soon after starting and at review. 5. Check FBC if bruising, mouth ulcers, or symptoms of infection (sore throat, fevers). Management of epilepsy 549 50 550 Chapter 15 Neurology Muscle disorders Symptoms Muscle weakness, fatigability. Pain at rest suggests inflammation—​pain on exercise, ischaemia, or metabolic myopathy. Signs Look for associated systemic disease. Myotonia Delayed muscular relaxation after contraction, e.g. difficulty letting go after gripping something Local muscular tenderness or firm muscles May be due to infiltration of muscle with connective tissue or fat Fasciculation Spontaneous, irregular, and brief contractions of part of a muscle—​suggests LMN disease, e.g. MND Lumps Tumours are rare—​lumps may be due to tendon rupture, haematoma, or herniation of muscle through fascia Muscular dystrophies Group of genetic disorders characterized by progressive degeneration and weakness of some muscle groups. Dystrophia myotonica Autosomal dominant inheritance—​abnormal DMPK gene on chromosome 19. Presents at any age. Symptoms vary from mild to severe and may include: Muscle symptoms Weakness and myotonia—​particularly involves face, eyelids, jaw, neck, forearms/​hands, lower legs/​feet. Can affect speech and result in a lack of facial expression Respiratory symptoms Weakness of respiratory muscles l poor night-​time sleep, daytime sleepiness, headaches, and difficulty waking; aspiration l recurrent chest infections Eye symptoms Cataract (may be the only problem) and ptosis Reproductive problems Infertility as a result of atrophy of the testes and problems in labour due to uterine muscle weakness Learning difficulty and behavioural problems Digestive symptoms—​Swallowing difficulty, abdominal pain, constipation/​diarrhoea, gallstones Cardiac arrhythmias Annual ECG is advisable Endocrine abnormalities e.g. DM Anaesthetic problems Pre-​warn anaesthetist/​surgeon prior to surgery Prognosis is variable depending on severity of symptoms. Refer to confirm diagnosis, and for advice on management/​genetic counselling. Duchenne’s muscular dystrophy Sex-​linked recessive inheritance means almost always confined to boys. 30% of cases are due to spontaneous mutation. Investigation shows markedly i CK (>40× normal). Presents typically at 74y with progressively clumsy walking. Few survive to >20y old. Refer for confirm- ation of diagnosis and ongoing specialist support. Genetic counselling is important. Patient information and support Muscular Dystrophy Campaign F 0800 652 6352 M www.muscular-​ ­dystrophy.org Myotonic Dystrophy Support Group F 0115 987 0080 M www. myotonicdystrophysupportgroup.org  Muscle disorders 551 Toxic myopathies Certain drugs can cause myopathy including: Alcohol Steroids Ciclosporin Labetalol Chloroquine Cocaine Cholesterol-​lowering drugs Zidovudine Heroin (including the statins) Vincristine PCP Management Stop the implicated drug immediately. If symptoms do not re- solve, refer for confirmation of diagnosis and management advice. Acquired myopathy of late onset Often a manifestation of sys- temic disease, e.g. thyroid disease (especially hyperthyroidism), carcinoma, Cushing’s disease. Investigate to find the cause. Treat the cause if found, otherwise refer for further investigation. Polymyositis Insidious, symmetrical, proximal muscle weakness due to muscle inflammation. Dysphagia, dysphonia, and/​ or respiratory muscle weakness may follow. 25% have a purple rash on cheeks, eyelids, and other sun-​exposed areas (dermatomyositis) ± nail fold erythema. CK levels are i. Associated with malignancy in 10% of patients > 40y. Refer. PoliomyelitisND Acute polio Spread: droplet or faecal–​oral. Incubation: 7d. Presents with 2d flu-​like prodrome then fever, tachycardia, headache, vomiting, stiff neck, and unilateral tremor (‘pre-​paralytic stage’). 65% who experience the pre-​ paralytic stage go on to develop paralysis (myalgia, LMN signs ± respira- tory failure). Management: supportive—​admit to hospital. 10y and adults 3 doses of 3-​part vaccine (Td/​IPV) each 1mo apart. Give booster doses after 3y and 10y Booster doses for travel Not required unless at special risk, e.g. travelling to endemic/​epidemic area or healthcare workers. Boosters of Td/​IPV are then given every 10y Late effects of polio 20–​30y after initial infection some patients develop new symptoms often triggered by a period of immobilization: i muscle weakness and fatigue Pain in muscles and joints Respiratory difficulties (particularly in those who spent some time in an iron lung ventilator)—​may present with symptoms relating to sleep Once other causes are excluded, treatment is supportive. Motor neurone disease E p. 542 Myasthenia gravis/​Lambert–​Eaton syndrome E p. 518 52 552 Chapter 15 Neurology Other neurological syndromes Von Recklinghausen’s disease (type 1 neurofibromatosis; NF1) Autosomal dominant trait. Criteria for diagnosis: ≥2 of: ≥6 café-​au-​lait patches (flat, coffee-​coloured patches of skin seen in 1st year of life, i in number and size with age) >5mm (prepubertal) or >15mm (postpubertal) ≥2 neurofibromas: Dermal neurofibromas—​small violaceous skin nodules which appear after puberty Nodular neurofibromas—​subcutaneous, firm nodules arising from nerve trunks (may cause paraesthesiae if compressed) or a plexiform neurofibroma which appears as a large subcutaneous swelling Freckling in axilla, groin, neck base, and submammary area (women). Present by age 10y ≥2 Lisch nodules—​nodules of the iris only visible with a slit lamp Distinctive bony abnormality specific to NF1, e.g. sphenoid dysplasia 1st-​degree relative with NF1 Management Ongoing specialist management is essential. Complications Affect 1 in 3 patients: Mild learning disability Pseudoarthrosis Short stature i BP (6%)—​due to renal artery Macrocephaly stenosis or phaeochromocytoma Nerve root compression Malignancy (5%)—​optic glioma GI bleeding or obstruction or sarcomatous change of Cystic bone lesion neurofibroma Scoliosis Epilepsy (slight i) Type 2 neurofibromatosis (NF2) Much rarer than type 1. Autosomal dominant inheritance. Diagnosis One of: Bilateral vestibular schwannoma (acoustic neuroma—​sensorineural hearing loss, vertigo ± tinnitus) or 1st-​degree relative with NF2 and either a unilateral vestibular schwannoma or ≥1 neurofibroma, meningioma, glioma, schwannoma, or juvenile cataract Management Screen at-​risk patients with annual hearing tests. Once diag- nosis is made, specialist neurosurgical management is needed. Complications Schwannomas of other cranial nerves, dorsal nerve roots, or peripheral nerves; meningioma (45%); other gliomas (less common). Ekbom syndrome (restless legs syndrome) The patient (who is usually in bed) is seized by an irresistible desire to move his/​her legs in a re- petitive way accompanied by an unpleasant sensation deep in the legs. Sleep disturbance is common, as is +ve FH. Cause: unknown. Management Exclude drug causes—​common culprits: β-​blockers, H2 antagonists, neuroleptics, lithium, TCAs, anticonvulsants  Other neurological syndromes 553 Exclude peripheral neuropathy or ischaemic rest pain Iron deficiency (with or without anaemia) is associated in 1 in 3 sufferers, so check FBC and serum ferritin Also check: U&E, Cr, eGFR, fasting blood glucose, and TFTs Try non-​drug measures first—​reassurance, information, walking/​ stretching, warmth, relaxation exercises, massage Drugs—​dopamine agonists are often effective, e.g. ropinirole, pramipexole Refer if severe symptoms or diagnosis is in doubt Patient support RLS-​UK M https://​www.rls-​uk.org/​ Wernicke’s encephalopathy Thiamine deficiency causing nystagmus, ophthalmoplegia, and ataxia. Other eye signs, e.g. ptosis, abnormal pupillary reactions, and altered consciousness or confusion may also occur. Consider in any patient with symptoms and a history of alcohol misuse. Management Refer for confirmation of diagnosis. Meanwhile start thiamine 200–​300mg od po to prevent irreversible Korsakoff syndrome. In severe cases, admit as a medical emergency. Korsakoff syndrome d ability to acquire new memories. May follow Wernicke’s encephalopathy and is due to thiamine deficiency. Confabulation to fill gaps in memory is a feature. Gilles de la Tourette syndrome E p. 889 Huntington’s disease (chorea) Autosomal dominant trait. Testing can identify affected individuals before symptoms occur. Pre-​conceptual and antenatal testing is available and should be offered to any couple with a family history on either the mother or the father’s side. Presents with move- ment abnormalities (e.g. hemichorea and rigidity) and dementia. Memory is relatively spared compared to cognition. Refer to neurology for diagnosis and expert advice and to genetics for discussion of gene testing. Friedreich’s ataxia The most common inherited ataxia (autosomal re- cessive). Prevalence—​1 in 50,000. Presents in adolescence with progressive gait and limb ataxia, loss of proprioception, pyramidal weakness, and dys- arthria. Extra-​neurological involvement includes hypertrophic cardiomyop- athy (most patients) and DM (10%). Treatment is supportive. Most patients become chairbound within 15y and die in the 4th or 5th decade from car- diac or pulmonary complications. Patient support Ataxia UK F 0845 644 0606 M www.ataxia.org.uk 54 554 Chapter 15 Neurology Neurological rehabilitation problems General principles of rehabilitation E p. 196 Fatigue Consider and treat factors that might be responsible: Depression Disturbed sleep Chronic pain Poor nutrition Action Review support, diet, and medication; encourage graded aerobic exercise; consider a trial of amantadine 200mg/​d to improve symptomsN. Depression and anxiety Common. Diagnosis can be difficult. Use NICE depression screening questions (E p. 173). Any positive response should prompt further assessment for depression (E p. 978). Talk about the impact of the illness on lifestyle. Jointly identify areas where +ve changes could be made, e.g. referral to day care to widen social contact. Consider referral for counselling or to a self-​help/​support group. Consider anti- depressant medication and/​or referral to psychiatric services. Emotionalism If the patient cries (or laughs) with minimal provocation, consider emotionalism—​impairment in the control of crying. Reassure. Sexual and personal relationships Problems are common. Useful information sheets are available at M www.outsiders.org.uk Communication problems Speech therapy assessment is vital. Consider support via dysphasia groups and communication aids, e.g. simple pointing board (take advice from speech therapy and OT). Poor vision Refer to an optician in the first instance. If corrected vision is still poor, refer for ophthalmology review. Respiratory infections Common. Treat with antibiotics unless in ter- minal stages of disease. Advise pneumococcal and influenza vaccination as appropriate (0 Flu vaccine may be contraindicated for some patients with MS on disease-​modifying therapy.) Venous thromboembolism Common but clinically apparent in 3 proven UTIs in 1y refer to specialist incontinence service or urology for further assessment Incontinence E p. 424. If urgency, modify environment, e.g. provide commode; try anticholinergic, e.g. tolterodine 2mg bd or oxybutinin 5mg tds. If not settling, refer for specialist assessment Nocturia Desmopressin 100–​400mcg po/​10–​40mcg intranasally may help Bowel problems Dysphagia Common. Fluids are more difficult to swallow than semisolids. Formal assessment by trained staff is essential. Feeding through nasogastric tube or percutaneous endoscopic gastrostomy (PEG) may be needed long or short term—​in terminal disease (e.g. MND); weigh provision of nutrition against prolongation of poor-​quality life Constipation Difficulty with defecation or bowel opening