Neurology Short Case Flashcards
Causes of Horner’s syndrome (6)
- Carcinoma of lung apex (usually SCC)
- Neck - thyroid malignancy, trauma
- Carotid arterial lesion - carotid aneurysm or dissection, peri-carotid tumour, cluster headache
- Brainstem lesion - lateral medullary syndrome, syringobulbia, tumour
- Retro-orbital lesions
- Syringomyelia (rare)
Causes of anosmia (bilateral) (7)
- Upper respiratory tract infection (most common)
- Meningioma of the olfactory groove (late)
- Ethmoid tumours
- Head trauma (including cribriform plate fracture)
- Meningitis
- Hydrocephalus
- Congenital - Kallman’s syndrome (hypogonadotrophic hypogonadism)
Causes of anosmia (unilateral) (2)
- Meningioma of the olfactory groove (early)
2. Head trauma
Causes of absent light reflex but intact accomodation reflex (4)
- Midbrain lesion (eg. Argyll Robertson pupil)
- Ciliary ganglion lesion (eg. Adie’s pupil)
- Parinaud’s syndrome
- Bilateral anterior visual pathway lesions (bilateral afferent pupil deficits)
Causes of absent convergence but intact light reflex (2)
- Cortical lesion (eg. cortical blindness)
2. Midbrain lesions (rare)
Causes of constricted pupils (6)
- Horner’s syndrome
- Argyll Robertson pupil
- Pontine lesion (often bilateral, but reactive to light)
- Narcotics
- Pilocarpine drops
- Old age
Causes of dilated pupils (6)
- Mydriatics, atropine poisoning or cocaine
- Third nerve lesion
- Adie’s pupil
- Iridectomy, lens implant, iritis
- Post trauma, deep coma, cerebral death
- Congenital
Cause and signs (5) of Adie’s syndrome
Cause: lesion in the efferent parasympathetic pathway
Signs:
- Dilated pupil
- Decreased or absent reaction to light (direct and consensual)
- Slow or incomplete reaction to accomodation with slow dilation afterwards.
- Decreased tendon reflexes
- Patients are commonly young women
Causes of Argyll Robertson pupil (4)
Cause: lesion of the iridodilator fibres in the midbrain
- Syphilis
- Diabetes mellitus
- Alcoholic midbrain degeneration (rarely)
- Other midbrain lesions
Signs of Argyll Robertson pupil (4)
- Small, irregular, unequal pupil
- No reaction to light
- Prompt reaction to accomodation
- If tabes associated, decreased reflexes
Features of papilloedema (6)
- Optic disc swollen without venous pulsation
- Acuity normal (early)
- Colour vision normal
- Large blind spot
- Peripheral constriction of visual fields
- Usually bilateral
Features of papillitis (6)
- Optic disc swollen (in retrobulbar neuritis and old papillitis the optic disc becomes pale)
- Acuity poor
- Colour vision affected (particularly red desaturation)
- Large central scotoma
- Pain on eye movement
- Onset usually sudden and unilateral
Causes of papilloedema (7)
- Space - occupying lesion (causing raised intracranial pressure) or a retro-orbital mass
- Hydrocephalus (associated with large ventricles)
- Idiopathic intracranial hypertension
- Hypertension (grade IV)
- Central retinal vein thrombosis
- Cerebral venous sinus thrombosis
- High cerebrospinal fluid protein level - Guillain-Barre syndrome
Causes of hydrocephalus (2)
- Obstructive (block in the third ventricle, aqueduct or outlet to fourth ventricle - eg. tumour)
- Communicating
- increased formation - choroid plexus papilloma
- decreased absorption - tumour causing venous compression, subarachnoid space obstruction from meningitis
Causes of idiopathic intracranial hypertension (6)
- Idiopathic
- Contraceptive pill
- Addison’s disease
- Drugs - nitrofurantoin, tetracycline, vitamin A, steroids
- Lateral sinus thrombosis
- Head trauma
Causes of optic atrophy (5)
- Chronic papilloedema or optic neuritis
- Optic nerve pressure or division
- Glaucoma
- Ischemia
- Familial - retinitis pigments, Leber’s disease, Friedreich’s ataxia
Causes of optic neuropathy (6)
- Multiple sclerosis
- Toxic - ethambutol, chloroquine, nicotine, alcohol
- Metabolic - vitamin B12 deficiency
- Ischaemia - diabetes mellitus, temporal arteritis, atheroma
- Familial - Leber’s disease
- Infective - infectious mononucleosis
Causes of cataract (6)
- Old age (senile cataract)
- Endocrine - diabetes mellitus, steroids
- Hereditary or congenital - dystrophia myotonica, Refsum disease
- Ocular disease - galucoma
- Irradiation
- Trauma
Causes of ptosis with normal pupils (9)
- Senile ptosis (common)
- Myotonic dystrophy
- Fascioscapulohumeral dystrophy
- Ocular myopathy eg. mitochondrial myopathy
- Thyrotoxic myopathy
- Myasthenia gravis
- Botulism, snake bite
- Congenital
- Fatigue
Causes of ptosis with constricted pupils (2)
- Horner’s syndrome
2. Tabes dorsalis
Cause of ptosis with constricted pupils (1)
- Third nerve lesion
Clinical features of a third nerve palsy (3)
- Complete ptosis (partial ptosis with incomplete lesions)
- Divergent strabismus (eye ‘down and out’)
- Dilated pupil unreactive to direct or consensual light and unreactive to accomodation
Central causes of third nerve palsy (5)
- Vascular (brainstem infarction)
- Tumour
- Demyelination
- Trauma
- Idiopathic
Peripheral causes of third nerve palsy (4)
- Compressive lesions (next card)
- Infarction - diabetes mellitus, arteritis (pupil usually spared)
- Trauma
- Cavernous sinus lesions
Peripheral causes of third nerve palsy (compressive) (5)
- Aneurysm (usually posterior communicating artery)
- Tumour causing raised intracranial pressure (dilated pupil occurs early)
- Nasopharyngeal carcinoma
- Orbital lesions - Tolosa-Hunt syndrome (superior orbital fissure syndrome - painful lesion of the 3rd, 4th, 6th, and 1st division of 5th cranial nerves)
- Basal meningitis
Clinical features of a sixth nerve palsy (3)
- Failure of lateral movement
- Affected eye is deviated inwards in severe lesions
- Diplopia - maximal on looking to the affected side; the images are horizontal and parallel to each other; the outermost image is from the affected eye and disappears on covering this eye (this image is also usually more blurred)
Causes of bilateral sixth nerve palsies (4)
- Trauma (head injury)
- Wernicke’s encephalopathy
- Raised intracranial pressure
- Mononeuritis multiplex
Causes of unilateral sixth nerve palsies - central (4)
- Vascular
- Tumour
- Wernicke’s encephalopathy
- Multiple sclerosis (rare)
Causes of unilateral sixth nerve palsies - peripheral (4)
- Diabetes, other vascular lesions
- Trauma
- Idiopathic
- Raised intracranial pressure
Causes of jerky nystagmus - horizontal (3)
- Vestibular lesion (fast phase away from lesion)
- Cerebellar lesion (fast phase towards lesion)
- Internuclear ophthalmoplegia (MS or brain stem infarct)
Causes of jerky nystagmus - vertical (2)
- Brain stem lesion
- upbeat nystagmus suggests lesion in floor of the fourth ventricle
- downbeat nystagmus suggests a foramen magnum lesion - Toxic - phenytoin, alcohol (may be multidirectional)
Causes of pendular nystagmus (2)
- Retinal (decreased macular vision) - albinism
2. Congenital
Clinical features of supranuclear palsy (5)
- Loss of vertical upward and/or downward gaze
- Both eyes affected
- Pupils often unequal
- No diplopia
- Reflex eye movements intact
Clinical features of Steele-Richardson-Olszewski (PSP) (6)
- Loss of vertical downward gaze first, later vertical upward gaze and finally horizontal gaze. Saccades are impaired before pursuit. Vergence is lost early
- Pseudo bulbar palsy
- Long-tract signs
- Extrapyramidal signs
- Dementia
- Neck rigidity
Clinical features of Parinaud’s syndrome (3)
- Loss of vertical upward gaze
- Convergence-retraction nystagmus on attempted convergence
- Pseudo Argyll Robertson pupils
Causes of Parinaud’s syndrome (8)
Central
- Pinealoma
- Multiple sclerosis
- Vascular lesions
Peripheral
- Trauma
- Diabetes mellitus
- Other vascular lesions
- Idiopathic
- Raised intracranial pressure
Causes of fifth nerve palsy (central) (4) - pons, medulla, upper cervical cord
- Vascular
- Tumour
- Syringobulbia
- Multiple sclerosis
Causes of fifth nerve palsy (peripheral) (3) - posterior fossa
- Aneurysm
- Tumour (skull base eg. acoustic neuroma)
- Chronic meningitis
Causes of fifth nerve palsy (trigeminal ganglion) (2) - petrous temporal bone
- Meningioma
2. Fracture of the middle fossa
Causes of fifth nerve palsy (cavernous sinus) (3) - associated 3rd, 4th and 6th nerve palsies
- Aneurysm
- Thrombosis
- Tumour
Causes of fifth nerve palsy (other) (4)
- Sjogren’s syndrome
- SLE
- Toxins
- Idiopathic
Causes of seventh nerve palsy (upper motor neurone) (2)
- Vascular
2. Tumour
Causes of seventh nerve palsy (lower motor neurone) (4 regions)
- Pontine (often associated with V, VI)
- vascular
- tumour
- syringobulbia
- multiple sclerosis - Posterior fossa
- acoustic neuroma
- meningioma - Petrous temporal bone
- Bell’s palsy
- Ramsay Hunt syndrome
- otitis media
- fracture - Parotid
- tumour
- sarcoid
Causes of bilateral lower motor neurone facial weakness (5)
- Guillain-Barre syndrome
- Bilateral parotid disease (eg. sarcoidosis)
- Mononeuritis multiplex (rare)
- Myopathy
- Neuromuscular junction defects
Causes of sensorineural deafness (7)
- Degeneration (presbycusis)
- Trauma (eg. high noise exposure, fracture of the petrous temporal bone)
- Toxic (eg. aspirin, alcohol, streptomycin)
- Infection (eg. congenital rubella, congenital syphilis)
- Tumour (eg. acoustic neuroma)
- Brain stem lesions
- Vascular disease of internal auditory artery
Causes of conductive deafness (4)
- Wax
- Otitis media
- Otosclerosis
- Paget’s disease of bone
Causes of ninth and tenth nerve palsy (central) (4)
- Vascular (lateral medullary infarction)
- Tumour
- Syringobulbia
- Motor neurone disease (vagus nerve only)
Causes of ninth and tenth nerve palsy (peripheral - posterior fossa) (4)
- Aneurysm
- Tumour
- Chronic meningitis
- Guillain-Barre syndrome (vagus nerve only)
Causes of twelfth nerve palsy (upper motor neurone) (4)
- Vascular
- Motor neurone disease
- Tumour
- Multiple sclerosis
Causes of twelfth nerve palsy (lower motor neurone - unilateral) (9)
Central
- Vascular - vertebral artery thrombosis
- Motor neurone disease
- Syringobulbia
Peripheral
- Aneurysm
- Tumour
- Chronic meningitis
- Trauma
- Arnold-Chiari malformation (protrusion of the cerebellar tonsils through foramen magnum)
- Fracture or tumour of the base of the skull
Causes of twelfth nerve palsy (lower motor neurone - bilateral) (4)
- Motor neurone disease
- Arnold-Chiari malformation
- Guillain-Barre syndrome
- Polio
Causes of multiple cranial nerve palsies (8)
- Nasopharyngeal carcinoma
- Chronic meningitis (eg. carcinoma, TB, sarcoidosis)
- Guillain-Barre syndrome (spares nerves I, II, VIII) including Miller Fisher variant
- Brain stem lesions (usually vascular)
- Arnold-Chiari malformation
- Trauma
- Lesion of the base of the skull (eg. Paget’s, meningioma, metastasis)
- Mononeuritis multiplex (eg. diabetes)
Causes of peripheral neuropathy (mixed) (9)
- Drugs and toxins
- Alcohol, amyloidosis
- Metabolic - diabetes mellitus (30%), uraemia, hypothyroidism, porphyria
- Immune related - GBS
- Tumour - lung carcinoma
- Vitamin B12 or B1 deficiency, B6 excess
- Idiopathic (30%)
- Connective tissue disease - SLE, PAN
- Hereditary (30%)
Drugs and toxins that cause peripheral neuropathy (7)
- Isoniazid
- Vincristine
- Phenytoin
- Nitrofurantoin
- Cisplatinum
- Amiodarone
- Large doses of vitamin B6
Causes of peripheral neuropathy (motor predominant) (6)
- Guillain-Barre syndrome, CIDP
- Hereditary motor and sensory neuropathy (Charcot-Marie-Tooth)
- Acute intermittent porphyria
- Diabetes mellitus
- Lead poisoning
- Multifocal motor neuropathy
Causes of peripheral neuropathy (sensory predominant) (8)
Usually associated with sensory ataxia and pseudoathetosis
- Diabetes mellitus
- Carcinoma (eg. lung, ovary, breast) (may be neuronopathy, length independent)
- Paraproteinaemia
- Vitamin B6 intoxication
- Sjogren’s syndrome (often a neuronopathy)
- Syphilis
- Vitamin B12 deficiency (occasionally)
- Idiopathic
Causes of a painful peripheral neuropathy (7)
- Diabetes mellitus
- Alcohol
- Vitamin B12 or B1 deficiency
- Carcinoma
- Porphyria
- Arsenic or thallium poisoning
- Hereditary (most are not painful)
Nerve conduction test findings for demyelinating lesions
eg. diabetes, paraprotein, CMT, CIDP (3)
- Velocity <75%
- Distal latency >130%
- Amplitude normal
Nerve conduction test findings for axonal lesions - eg. diabetes, toxins, metabolic, paraneoplastic (2)
- Amplitude <50%
2. Velocity >70%
Causes of mononeuritis multiplex - acute (3)
- Diabetes mellitus
- Polyarteritis nodosa
- Connective tissue diseases - SLE, RA
Causes of mononeuritis multiplex - chronic (7)
- Multiple compressive neuropathies (especially with joint-deforming arthritis)
- Sarcoidosis
- Acromegaly
- Leprosy
- Lyme disease
- Carcinoma (rare)
- Idiopathic
Causes of thickened nerves (6)
- Hereditary motor and sensory neuropathy
- Acromegaly
- CIDP
- Amyloidosis
- Leprosy
- Others - sarcoidosis, neurofibromatosis
Causes of fasciculation (6)
- Benign idiopathic fasciculation (most common)
- Motor neurone disease
- Motor root compression
- Malignant neuropathy
- Spinal muscular atrophy/bulbospinal muscular atrophy (Kennedy syndrome)
- Any motor neuropathy
Causes of myokymia (6)
- Multiple sclerosis
- Brain stem neoplasm
- Bell’s palsy
- Radiculopathy
- Radiation plexopathy
- Chronic nerve compression
Clinical features of hereditary motor and sensory neuropathy (HMSN) (6)
- Pes cavus
- Distal muscle atrophy
- Absent reflexes
- Slight to no sensory loss in the limbs
- Thickened nerves
- Optic atrophy; Argyll Robertson pupils (rare)
Clinical features of brachial plexus lesion (complete) (3)
- Lower motor neurone signs affecting the whole arm
- Sensory loss of the whole limb
- Horner’s syndrome (only if lesion is proximal in the lower plexus)
Clinical features of Erb-Duchenne - upper trunk lesions (C5,C6) (2)
- Loss of shoulder movement and elbow flexion - waiter’s tip position
- Sensory loss over lateral aspect of arm and forearm, and over the thumb
Clinical features of Klumpke - lower trunk lesions (3)
- True claw hand with paralysis of all the intrinsic muscles
- Sensory loss along the ulnar side of the hand and forearm
- Horner’s syndrome
Clinical features of cervical rib syndrome (5)
- True claw hand (wasting/weakness of small muscles of the hand)
- Sensory loss over medial aspect of the hand and forearm
- Unequal radial pulses and blood pressures
- Subclavian bruit and loss of the pulse on arm manoeuvring
- Palpable cervical rib in the neck (uncommon)
Clinical features of radial nerve (C5 - C8) lesions (4)
- Wrist and finger drop (wrist flexion normal)
- Triceps loss (if lesion is above the spiral grove)
- Sensory loss over the anatomical snuff-box
- Finger abduction appears to be weak (difficulty of spreading the fingers when they cannot be straightened)
Clinical features of median nerve (C6-T1) lesions (3)
- Loss of abductor policies brevis - pen-touching test
- Loss of flexor digitorum sublimis - with lesions in or above the cubital fossa - Ochsner’s clasping test
- Sensory loss over the thumb, index, middle and lateral half of the ring finger (palmar aspect)
Clinical features of ulnar nerve (C8-T1) lesions (5)
- Wasting of the intrinsic muscles of the hand (except LOAF)
- Weak finger abduction and adduction (interosseous)
- Ulnar claw-like hand (higher lesion causes less deformity)
- Froment’s sign
- Sensory loss over the little and medial half of the ring finger (both palmar and dorsal aspects)
Causes of wasting of the small muscles of the hands (5)
- Nerve lesions
- median and ulnar nerve lesions
- brachial plexus lesions
- peripheral motor neuropathy - Anterior horn cell disease
- MND
- polio
- spinal muscular atrophies - Myopathy
- dystrophia myotonica
- distal myopathy - Spinal cord lesions
- syringomyelia
- cervical spondylosis with compression of C8 segment
- other (eg. tumour) - Trophic disorders
- arthropathies (disuse)
- ischemia, including vasculitis
- shoulder-hand syndrome
Clinical features of femoral nerve (L2-L4) lesions (5)
- Weakness of knee extension (quadriceps paralysis)
- Slight hip flexion weakness
- Preserved adductor strength
- Loss of knee jerk
- Sensory loss involving the inner aspect of the thigh and leg
Clinical features of sciatic nerve (L4-S2) lesions (5)
- Weakness of knee flexion (hamstrings involved)
- Loss of power of all muscles below the knee causing a foot drop, the patient may be able to walk but cannot stand on the toes or heels)
- Knee jerk intact
- Loss of ankle jerk and plantar response
- Sensory loss along the posterior thigh and total loss below the knee
Clinical features of common peroneal (L4 - S1) lesions (3)
- Foot drop
- Loss of foot eversion
- Sensory loss (minimal) over the dorsum of the foot
- reflexes are normal
Causes of foot drop (8)
- Common peroneal nerve palsy (preserved ankle jerk)
- Sciatic nerve palsy
- Lumbosacral plexus lesion
- L4, L5 root lesion
- Peripheral motor neuropathy
- Distal myopathy
- Motor neurone disease (increased ankle jerk)
- Precentral gyrus lesion (increased ankle jerk)
Causes of sensory level in paraplegic patients (5)
- Cord compression
- Transverse myelitis
- Anterior spinal artery occlusion (spares posterior column)
- Intrinsic cord lesion
- Multiple sclerosis
Causes of arm involvement in paraplegic patients (4)
- Cervical spondylosis
- Syringomyelia
- Motor neurone disease
- Multiple sclerosis
Causes of cranial nerve lesions in paraplegic patients (2)
- Motor neurone disease
2. Multiple sclerosis
Causes of peripheral neuropathy in paraplegic patients (5)
- Vitamin B 12 deficiency
- Freireich’s ataxia
- Carcinoma
- Hereditary spastic paraplegia
- Syphilis
Clinical features of upper cervical lesions (2)
- Upper motor neurone signs in upper/lower limbs
2. Paralysis of the diaphragm with lesions above C4
Clinical features of C5 lesions (4)
- Lower motor neurone weakness/wasting of rhomboids, deltoids, biceps and brachioradialis
- Upper motor neurone signs affects the rest of the upper and all the lower limbs
- Biceps jerk is lost
- Supinator jerk is inverted
Clinical features of C8 lesions (2)
- Lower motor neurone weakness and wasting of intrinsic muscles of the hand
- Upper motor neurone signs in lower limbs
Clinical features of mid thoracic lesions (4)
- Intercostal paralysis
- Loss of upper abdominal reflexes at T7 and T8
- Upper motor neurone signs in the lower limbs
- Sensory level on the trunk
Clinical features of T10-T11 lesions (2)
- Loss of the lower abdominal reflexes and upward displacement of the umbilicus on contraction (Beevor’s sign)
- Upper motor neurone signs in the lower limbs
Clinical features of L1 lesions (2)
- Cremasteric reflexes lost (normal abdominal reflexes)
2. Upper motor neurone signs in lower limbs
Clinical features of L4 lesions (2)
- Lower motor neurone weakness and wasting of quadriceps
2. Ankle jerk lost
Clinical features of L5 and S1 lesions (4)
- Lower motor neurone weakness of knee flexion and hip extension (S1) and abduction (L5), plus calf and foot muscles
- Knee jerk present
- No ankle jerk or plantar response
- Anal reflex present
Clinical features of S3-S4 lesions (3)
- No anal reflex
- Saddle sensory loss
- Normal lower limbs
Clinical features of subacute combined degeneration of the cord (vitamin B12 deficiency) (5)
- Symmetrical posterior column loss (vibration/proprioception) causing an ataxic gait
- Symmetrical upper motor neurone signs in the lower limbs with absent ankle reflexes, knee reflexes may be exaggerated
- Peripheral sensory neuropathy (less common and mild)
- Optic atrophy (occasionally)
- Dementia (occasionally)
Causes of an extensor plantar response plus absent knee jerk (7)
- Subacute combined degeneration of the cord
- Conus medullaris lesion
- Combination of an upper motor neurone lesion with caudal equine compression or peripheral neuropathy
- Syphilis (taboparesis)
- Freidreich’s ataxia
- Diabetes mellitus (uncommon)
- Adrenoleukodystrophy or metachromatic leukodystrophy
Clinical features of Brown-Sequard syndrome (6)
- Upper motor neurone signs below hemisection on the same side
- Lower motor neurone signs at the level of the hemisection on the same side
- Pain/temperature loss on the opposite side (few segments below the lesion)
- Vibration and proprioception loss on the same side
- Light touch is often normal
- Band of sensory loss on the same side at the level of the lesion (afferent nerve fibres)
Causes of Brown-Sequard syndrome (6)
- Multiple sclerosis
- Angioma
- Glioma
- Trauma
- Myelitis
- Postradiation myelopathy
Causes of spinothalamic loss only (5)
- part of dissociated sensory loss
- Syringomyelia (cape distribution)
- Brown-Sequard syndrome (contralateral leg)
- Anterior spinal artery thrombosis
- Lateral medullary syndrome (contralateral to the other signs)
- Peripheral neuropathy (diabetes mellitus, amyloid, Fabry disease)
Causes of dorsal column loss only (7) - part of dissociated sensory loss
- Subacute combined degeneration
- Brown-Sequard syndrome (ipsilateral leg)
- Spinocerebellar degeneration (eg. Fredreich’s ataxia)
- Multiple sclerosis
- Tabes dorsalis
- Sensory neuropathy or ganglionopathy (eg. carcinoma)
- Peripheral neuropathy from diabetes mellitus or hypothyroidism
Clinical triad of syringomyelia
- Loss of pain and temperature over the neck, shoulders and arms (cape)
- Amyotrophy (weakness, atrophy, areflexia) of the arms
- Upper motor neurone signs in the lower limbs
Causes of proximal muscle weakness (3)
- Myopathic
- Neuromuscular junction disorder - myasthenia gravis
- Neurogenic - Kugelberg-Welander disease (proximal muscle wasting and fasciculation as a result of anterior horn cell damage; autosomal recessive), motor neurone disease, polyradiculopathy
Causes of myopathy (10)
- Hereditary muscular dystrophy
- Congenital myopathies
mnemonic - PACE PODS
- Polymyositis or dermatomyositis
- Alcohol
- Carcinoma
- Endocrine
- Periodic paralysis
- Osteomalacia
- Drugs (clofibrate, chloroquine, steroids)
- Sarcoidosis
Endocrine causes of myopathy (5)
- Hypothyroidism
- Hyperthyroidism
- Cushing’s syndrome
- Acromegaly
- Hypopituitarism
Causes of proximal myopathy and a peripheral neuropathy (3)
- Paraneoplastic syndrome
- Alcohol
- Connective tissue disease
Types of muscular dystrophies (5)
- Duchenne’s (X-linked recessive) - severe
- Becker’s (X-linked recessive) - milder
- Limb girdle (autosomal recessive) - face and heart spared
- Facioscapulohumeral (autosomal dominant)
- Distal dystrophies (autosomal dominant) - dystrophia myotonica
Clinical features of Duchenne’s (8)
- Affects males (or females with Turner’s)
- Calves and deltoids are hypertrophied early
- Early proximal weakness
- Tendon reflexes are preserved in proportion to muscle strength
- Severe progressive kyphoscoliosis
- Heart disease (dilated cardiomyopathy)
- Creatinine kinase level markedly elevated
- Patients die in 2nd decade, usually from heart disease
Tests for myopathy (5)
- Creatine kinase (highest in Duchenne’s)
- EMG
- ECG (especially Duchenne’s and dystrophia myotonica)
- Muscle biopsy
- Echocardiogram (cardiac involvement)
Causes of myotonia (3)
- Dystrophia myotonica
- Myotonia congenita (myotonia of the tongue and thenar eminence, the recessive form being more severe)
- Paramyotonia congenital (episodic myotonia after cold exposure)
Causes of unilateral cerebellar disease (5)
- Space occupying lesion (tumour, abscess, granuloma)
- Ischaemia (vertebrobasilar disease)
- Paraneoplastic syndrome
- Multiple sclerosis
- Trauma
Causes of bilateral cerebellar disease (9)
- Drugs (eg. phenytoin)
- Friedreich’s ataxia
- Hypothyroidism
- Paraneoplastic syndrome
- Multiple sclerosis
- Trauma (punch drunk)
- Arnold-Chiari malformation
- Alcohol (most common) - can also cause rostral vermis lesion
- Large space-occupying lesion, cerebrovascular disease, rare metabolic diseases
Causes of midline cerebellar disease (2)
- Paraneoplastic syndrome
2. Midline tumour
Clinical features of Friedreich’s ataxia (8)
- Cerebellar signs (bilateral), including nystagmus
- Posterior column loss in the limbs
- Upper motor neurone signs in the limbs (ankle reflexes are absent)
- Peripheral neuropathy
- Optic atrophy
- Pes cavus, cocking of the toes and kyphoscoliosis
- Cardiomyopathy
- Diabetes mellitus
Causes of pes cavus (4)
- Friedreich’s ataxia or other spinocerebellar degenerations
- Hereditary motor and sensory neuropathy
- Neuropathies in childhood
- Idiopathic
Causes of spastic and ataxic paraparesis - in adolescents and young adults (5)
In adolescence
1. Spinocerebellar degeneration (eg. Friedreich’s)
In young adults
- Multiple sclerosis
- Syphilitic meningomyelitis
- Spinocerebellar ataxia (SCA)
- Arnold-Chiari malformation or other lesions at the craniospinal junction
Causes of spastic and ataxic paraparesis - in later life (5)
- Multiple sclerosis
- Syringomyelia
- Infarction (in upper pons or internal capsule bilaterally - ataxic hemiparesis)
- Lesion at the craniospinal junction (eg. meningioma)
- SCA
Causes of Parkinsonism (9)
- Idiopathic Parkinson’s disease
- Drugs - eg. phenothiazines, methyldopa
- Postencephalitis
- Toxins (carbon monoxide, manganese)
- Wilson’s disease
- PSP
- MSA
- Syphilis
- Tumour
Causes of chorea (9)
- Huntington’s disease (autosomal dominant)
- Sydenham’s chorea (rheumatic fever)
- Senility
- Wilson’s disease
- Drugs (eg. phenothiazines, OCP, phenytoin. L-dopa)
- Vasculitis or connective tissue disease
- Thyrotoxicosis (very rare)
- Polycythaemia or other causes of hyperviscosity (very rare)
- Viral encephalitis (very rare)