++
Tremor is an important symptom to evaluate correctly. The diagnostic model, including causes is presented in TABLE 33.4. A common pitfall in patients presenting with tremor is for Parkinson disease (PD) to be diagnosed as benign essential tremor and for benign essential tremor to be diagnosed as PD, but the clinical distinction is not always easy and it must be remembered that as many as 20% will experience both concurrently.
++
+++
Resting tremor—Parkinsonian
++
The tremor of PD is present at rest. The hand tremor is most marked with the arms supported on the lap and during walking. The characteristic movement is ‘pill-rolling’ where movement of the fingers at the metacarpophalangeal joints is combined with movements of the thumb. The resting tremor decreases on finger–nose testing. The best way to evoke the tremor is to distract the patient, such as focusing attention on the left hand with a view to ‘examining’ the right hand or by asking the patient to turn the head from side to side.
+++
Action or postural tremor
++
This fine tremor is noted by examining the patient with the arms outstretched and the fingers apart. The tremor may be rendered more obvious if a sheet of paper is placed over the dorsum of the hands. The tremor is present throughout movement, being accentuated by voluntary contraction.
++
Essential tremor (also called familial tremor or benign essential tremor)
Senile tremor
Physiological
Anxiety/emotional
Hyperthyroidism
Alcohol
Drugs, for example, drug withdrawal (e.g. heroin, cocaine, alcohol), amphetamines, lithium, sympathomimetics (bronchodilators), sodium valproate, heavy metals (e.g. mercury), caffeine, amiodarone
Phaeochromocytoma
+++
Intention tremor (cerebellar disease)
++
This coarse oscillating tremor is absent at rest but exacerbated by action and increases as the target is approached. It is tested by ‘finger–nose–finger’ touching or running the heel down the opposite shin, and past pointing of the nose is a feature. It occurs in cerebellar lobe disease and with lesions of cerebellar connections.
+++
Flapping (metabolic tremor)
++
A flapping or ‘wing-beating’ tremor is observed when the arms are extended with hyperextension of the wrists. It involves slow, coarse and jerky movements of flexion and extension at the wrists.
++
Note: Flapping (asterixis) is not strictly a tremor.
++
++
Essential tremor, which is probably the most common movement disorder (2–5% prevalence), has been variously called benign, familial, senile or juvenile tremor.
++
Autosomal dominant disorder (variable penetrance)
Often begins in early adult life, even adolescence
Usually begins with a slight tremor in both hands
May involve head (titubation), chin and tongue and rarely trunk and legs
Interferes with writing (not micrographic), handling cups of tea and spoons, etc.
Tremor most marked when arms held out (postural tremor); less evident at rest
Tremor exacerbated by anxiety
May affect speech if it involves bulbar musculature
Relieved by alcohol
Can swing arm and gait normal
++
+++
Distinguishing essential tremor from Parkinson disease
++
This is not always easy as a postural tremor can be present in PD although the hand tremor is most marked at rest with the arms supported on the lap. Parkinsonian tremor is slower at 4–6 Hz while essential tremor is much faster at around 8–13 Hz. Imaging is unnecessary.
++
A most useful way to differentiate the two causes is to observe the gait. It is normal in essential tremor but in PD there may be loss of arm swing and the step is usually shortened with stooped posture and shuffling gait.
++
Most patients do not need treatment and all that is required is an appropriate explanation.1 If necessary, use propranolol (first choice) or primidone 62.5 mg nocte (up to 250 mg).3 A typical starting dose of propranolol is 10–20 mg bd; many require 120–240 mg/day.3 If the tremor is only intrusive at times of increased emotional stress, intermittent use of benzodiazepines (e.g. lorazepam 1 mg) 30 minutes before exposure to the stress may be all that is required. Modest alcohol intake (e.g. a glass of whisky) is very effective. A standard drink of alcohol often alleviates the tremor. Larger doses of alcohol have no additional effect. If drugs fail, deep brain stimulation to the thalamus can be used.
++
Parkinson disease (PD) is a disorder of the automatic processor of the brain which relies on dopamine to maintain movements at a selected size and speed. Loss of dopamine causes movements to become smaller and slower. The pathological features are loss of dopamine-producing neurones from the substantia nigra in the brain stem together with Lewy bodies in the neurones.4 Genetic factors occur in 5% of individuals.
++
One of the most important clinical aspects of PD, which has a slow and insidious onset, is the ability to make an early diagnosis. Sometimes this can be very difficult, especially when the tremor is absent or mild, as occurs with the atherosclerotic degenerative type of Parkinsonism. The lack of any specific abnormality on special investigation leaves the responsibility for a diagnosis based on the history and examination. As a general rule of thumb the diagnosis of PD is restricted to those who respond to levodopa (L-dopa)—the rest are termed Parkinsonism or ‘Parkinson plus’.
+++
The classic quintet of PD
++
tremor (at rest)
rigidity
bradykinesia
postural instability
-
gait freezing
≥2 signs = Parkinson disease
+++
Key facts and checkpoints
++
PD is a most common and disabling chronic neurological disorder. About 90% are idiopathic.
The prevalence in Australia is 120–150 per 100 000.5 Lifetime risk is 1 in 40.
The mean age of onset is between 58 and 62 years.5
The incidence rises sharply over 70 years of age (peak 65 years).5
++
The diagnosis is based on the history and examination.
Always think of PD in an older person presenting with falls.
A reduced sense of smell is one of the first symptoms. Others that may precede PD include constipation, REM sleep disorders and orthostatic hypotension.
Non-motor automatic dysfunctions: cognition, behaviour, mood.
Hemi-Parkinsonism can occur; all the signs are confined to one side and thus must be differentiated from hemiparesis. In fact, most cases of PD start unilaterally.
Always consider drug-induced Parkinsonism. The usual drugs are phenothiazines, butyrophenones and reserpine. Tremor is uncommon but rigidity and bradykinesia may be severe.
Other causes include vascular (atherosclerosis) and normal pressure hydrocephalus.
++
++
++
++
Power, reflexes and sensation are usually normal.
The earliest abnormal physical signs to appear are loss of dexterity of rapid alternating movements and absence of arm swing, in addition to increased tone with distraction.
Positive frontal lobe signs, such as grasp and glabellar taps (only allow three blinks), are more common with Parkinsonism.
++
Note: There is no laboratory test for PD—it is a clinical diagnosis. Hypothyroidism and depression, which also cause slowness of movement, may cause confusion with diagnosis.
++
Note: The Steele–Richardson–Olszewksi syndrome (also known as progressive supranuclear palsy—PSP parkinsonism, mild dementia and vertical gaze dysfunction) is worth considering.
++
Three major traps in missing early diagnosis:5
Age: 10–15% are <50 years at onset
Belief that it is a disease of men: M = F
Absence of resting tremor (only 50% have it at onset)
+++
Principles of management
++
Provide appropriate explanation and education.
Explain that PD is slowly progressive and is improved but not cured by treatment. It is associated with increased mortality (RR death compared with general population ranges 1.6 to 3). The question of whether treatment reduces mortality remains controversial.7
Refer to a specialist for shared care—from outset.
Support systems are necessary for advanced PD.
Walking sticks (which spread the centre of gravity) with appropriate education into their use may be necessary to help prevent falls, and constant care is required, so that admission to a nursing home for end-stage disease may be appropriate.
-
Correct dopamine deficiency and/or block cholinergic excess in the brain.
+++
Management (pharmacological)8,9
++
Avoid postponing treatment. It should be commenced as soon as symptoms interfere with working capacity or the patient’s enjoyment of life. This will be apparent only if the correct questions are asked as the patient may accept impaired enjoyment without appreciating that it is due to PD. Start low—L-dopa 100/25 (½ tab bd) and go slow. There is usually no difference between the L-dopa preparations. The dosage should be tailored so that the patient neither develops side effects nor is on an inadequate dose of medication without significant therapeutic benefit (see TABLE 33.6). The dose usually progresses to 1 tab bd, then consider add-on therapy.
++
++
The older drugs, such as anticholinergics and amantadine, still have a place in modern management but L-dopa, which basically counters bradykinesia, is the best drug and the baseline of treatment. With the onset of disability (motor disturbances) L-dopa in combination with a decarboxylase inhibitor (carbidopa or benserazide) in a 4:1 ratio should be introduced. L-dopa therapy does not significantly improve tremor but improves rigidity, dyskinesia and gait disorder. Consider benzhexol or benztropine if tremor is the feature, especially in young patients.
++
The new non-ergot derivative dopamine agonists can be used in treatment, especially with the L-dopa ‘on–off’ phenomenon (fluctuations throughout the day). They are preferred to the ergot derivatives because of a superior adverse effect profile. They appear to be most effective when used in combination. The ergot derivatives can have serious adverse effects, including cardiac valve damage, and are no longer recommended. Selegiline is an effective second-line drug, especially in combination with Sinemet. If there is associated pain, depression or insomnia, the tricyclic agents (e.g. amitriptyline) can be effective.
++
Entacapone has the potential to increase ‘on time’ and reduce motor fluctuations in L-dopa treated patients who are beginning to experience end-of-dose failure. The initial dose is 200 mg and best used when combined with L-dopa.
+++
Treatment strategy8,9
++
Mild (minimal disability):
++
L-dopa preparation (low dose), e.g. L-dopa 100 mg + carbidopa 25 mg (½ tab bd—increase gradually as necessary to 1 tab (o) tds)
or
amantadine 100 mg (o) daily may help the young or the elderly for up to 12 months—if inadequate response
selegiline up to 5 mg bd can be added to L-dopa if necessary
++
Moderate (independent but disabled, e.g. writing, movements, gait):
++
++
Severe (disabled, dependent on others):
++
L-dopa (to maximum tolerated dose) + non-ergot dopamine agent
Add entacapone 200 mg (o) with each dose of L-dopa, e.g. Stalevo
Consider antidepressants
++
An example of a practical treatment algorithm is presented in FIGURE 33.4.
++
++
After 3–5 years of L-dopa treatment, side effects may appear in about one-half of patients:5
++
involuntary movements—dyskinesia
end-of-dose failure (reduced duration of effect to 2–3 hours only)—consider entacapone
‘on–off’ phenomenon (sudden inability to move, with recovery in 30–90 minutes)
early morning dystonia, such as clawing of toes (due to disease—not a side effect)
++
Specialist advice is appropriate.
++
Under consultant and good home/nursing care:
++
Apomorphine can be used for severe akinesia not responsive to L-dopa
-
For nausea and vomiting side effects: domperidone 20 mg (o) tds 24 hours prior to apomorphine
Better control may also be achieved with: amantadine 100 mg (o) bd
Duodopa—levodopa into jejunum
+++
Contraindicated drugs
++
+++
Multidisciplinary care
++
This important strategy includes physiotherapy, occupational therapy, physical therapy, e.g. tai chi, and psychiatry/psychology, e.g. CBT, mindfulness.
++
The preferred method is high-frequency deep brain stimulation via electrodes into the subthalamic nucleus, which may benefit all major features of the disease. The indication for surgery such as thalamotomy is erratic and disabling responses to prolonged L-dopa therapy, especially for annoying dyskinesias. It is considered more appropriate for younger patients with a unilateral tremor.8
++
If the diagnosis is unclear at the time of initial presentation, it is appropriate either to review the patient at a later date or to refer the patient for more neurological assessment.
++
Once diagnosed or highly suspected it is best to refer to establish the diagnosis and to seek advice on initiation of treatment. Patients and families usually prefer this approach. In the initial years before motor fluctuations develop, management could be performed by the GP according to an overall plan developed in liaison with a neurological colleague. When fluctuations develop and end-stage diseases manifest (e.g. gait disorders), specialist supervision is appropriate.1
++
Red flags in Parkinson disease and differential diagnosis10
Bilateral onset (PSP)
Poor response to L-dopa
Dysautonomia—bladder, orthostatic hypotension (MSA)
Dystonia (PSP)
Anterocollis (head flexed) (MSA)
Retrocollis (head extended) (PSP)
Myoclonus (CBD, CJD)
Early onset dementia (LBD)
CBD = corticobasal degeneration, CJD = Creutzfeldt–Jakob disease, LBD = Lewy body dementia, MSA = multiple system atrophy, PSP = progressive supranuclear palsy
+++
Cognitive impairment with Parkinson disease4,11
++
This may be due to multiple factors including Parkinson associated dementia, Lewy body dementia, Alzheimer disease and medication, all of which can induce psychosis, but L-dopa is the least likely. Neuropsychiatric symptoms, which can be varied and bizarre and usually worse in the evening, can occur. Factors contributing to psychosis are illustrated in FIGURE 33.5. Management is based on monotherapy with gradual build-up of L-dopa to maximum tolerated dose, for example, 450–600 mg/day.
++
++
Practice tips for Parkinson disease
One of the simplest diagnostic tools for PD, as compared with Parkinsonism, is a trial of therapy with L-dopa. The response is excellent while that for Parkinsonism is poor.
L-dopa is the gold standard for therapy.
Ensure that a distinction is made between drug-induced involuntary movements and the tremor of PD.
Keep the dose of L-dopa as low as possible to avoid these drug-induced involuntary movements.
In the elderly with a fractured hip always consider PD (a manifestation of disequilibrium).
Remember the balance of psychosis and PD in treatment.
Keep in mind the ‘sundown’ effect—patients often go psychotic as the sun goes down.
Don’t fail to attend to the needs of the family, who often suffer in silence.
If drugs are to be withdrawn they should be withdrawn slowly.
+++
Management (psychotic problems)
++
Treat as an inpatient
Exclude and treat comorbidities, e.g. UTI
Eliminate and wean off worst drugs
Increase L-dopa slowly to 150 mg tds or qid
Give quetiapine or olanzapine at night-time
+++
Paraesthesia and numbness
++
The diagnostic strategy model for paraesthesia and numbness is presented in TABLE 33.7.
++
++
Multiple sclerosis (MS) is the most common cause of progressive neurological disability in the 20–50 year age group.10 It is generally accepted that MS is an autoimmune disorder. Genetic and environmental factors are believed to play a role.12 Early diagnosis is difficult because MS is characterised by widespread neurologic lesions that cannot be explained by a single anatomical lesion, and the various symptoms and signs are subject to irregular exacerbations and remissions. The lesions are ‘separated in time and space’. The most important issue in diagnosis is the need for a high index of suspicion. The use of MRI has revolutionised the diagnosis of MS.
++
MS is a primary demyelinating disorder with demyelination occurring in plaques throughout the white and grey matter of the brain, brain stem, spinal cord and optic nerves. The clinical features depend on their location. There is a loss of brain volume.
++
There is a variety of types of MS—relapsing remitting (most common), secondary progressive, progressive relapsing and primary progressive—together with ‘benign’ and ‘malignant’ forms.
++
++
++
More common in females (3:1)
Peak age of onset is in the fourth decade
Transient motor and sensory disturbances
UMN signs
Symptoms develop over several days but can be sudden
Monosymptomatic initially in about 80%
Only 20% have a benign disease
Multiple symptoms initially in about 20%
Common initial symptoms include:
– visual disturbances of optic neuritis (blurred vision or loss of vision in one eye—sometimes both); central scotoma with pain on eye movement (looks like unilateral papilloedema)
– diplopia (brain-stem lesion)
– weakness in one or both legs, paraparesis or monoparesis
– sensory impairment in the lower limbs and trunk: numbness, paraesthesia; band-like sensations; clumsiness of limb (loss of position sense); feeling as though walking on cotton wool
– vertigo (brain-stem lesion)
Subsequent remissions and exacerbations that vary from one individual to another
80% have a relapsing remitting disease
There is a progressive form, esp. in women around 50 years
Anxiety, depression and other mood disorders are common
+++
Symptoms causing diagnostic confusion
++
Bladder disturbances, including retention of urine and urgency
‘Useless hand’ due to loss of position sense
Facial palsy
Trigeminal neuralgia
Psychiatric symptoms
++
In established disease, common symptoms are fatigue, impotence and bladder disturbances.
+++
Examination (neurological)
++
The findings depend on the site of the lesion or lesions and include optic atrophy, weakness, hyper-reflexia, extensor plantar responses, nystagmus (two types—cerebellar or ataxic), ataxia, incoordination and regional impairment of sensation.
++
The diagnosis is clinical along with the MRI and depends on the following determinants:
++
Lesions are invariably UMN.
>1 part of CNS is involved, although not necessarily at time of presentation.
Episodes are separated in time and space.
Practically MS can only be diagnosed after a second relapse or when the MRI shows new lesions.10
An early diagnosis requires evidence of contrast-enhancing lesions or new T2 lesions on the MRI indicating dissemination in time.
The diagnostic criteria is based on the internationally accepted 2010 McDonald criteria (refer to www.nice.org.uk)12,13
++
Other neurological disorders such as infections (e.g. encephalitis), malignancies, spinal cord compression, spinocerebellar degeneration and others must be excluded.
++
Lumbar puncture: oligoclonal IgG detected in CSF in 90% of cases14 (only if necessary)
Visual evoked potentials: abnormal in about 90% of cases
MRI scan: usually abnormal, demonstrating MS lesions in about 90% of cases14
++
The course is variable and difficult to predict. An early onset (<30 years) is usually ‘benign’ while a late onset (≥50 years) is often ‘malignant’.
MS follows a classic history of relapses and remissions in 80–85% of patients.14
The rate of relapse is about once in 2 years.
About 20% have a progressive course from the onset with a progressive spastic paraparesis (applies mainly to late-age onset).
The average duration of MS is about 40 years from diagnosis to death.14
A ‘benign’ course occurs in about 30% of patients with 10–20% never suffering major disability.
The median time to needing a walking aid is 15 years.8
The likelihood of developing MS after a single episode of optic neuritis is about 60%.
+++
Management principles
++
All patients should be referred to a neurologist for confirmation of the diagnosis, which must be accurate.
Explanation about the disorder and its natural history should be given.
Acute relapses require treatment if causing significant disability.
Depression and anxiety, which are common, require early treatment, e.g. paroxetine.
CBT or mindfulness-based interventions.
++
Mild symptoms, such as numbness and tingling, require only confirmation, rest and reassurance.
++
+++
Severe relapses or attacks8,15
++
These attacks include optic neuritis, paraplegia or brain-stem signs. Admit to hospital for IV therapy:
++
methylprednisolone 1 g in 200 mL saline by slow IV infusion (1 hour) daily for 3 days
Plasma exchange may be used.
Observe carefully for cardiac arrhythmias.
+++
Drugs to prevent relapses16
++
Currently first-line immunomodulators are the interferons, glatiramer acetate and the monoclonal antibodies natalizumab and alemtuzumab.
++
Interferon beta-1b (SC injection) and beta-1a (IM injection) appear to be effective (but expensive) for those with frequent and severe attacks.
++
New agents being evaluated include teriflunamide, daclizumab, ocrelizumab and Biotin.
+++
Treatment (symptoms)7,16
++
Physiotherapy
Baclofen 10–25 mg (o) nocte
For continuous drug therapy: baclofen 5 mg (o) tds, increasing to 25 mg (o) tds + diazepam 2–10 mg (o) tds
An alternative is dantrolene
+++
Paroxysmal (e.g. neuralgias)
++
++
The reported efficacy of the cannabis-based medicine Stativex for relaxation, pain and bladder function is still being debated. One RCT showed a positive effect on detrusor activity.18
++
See references 8 and 16 for treatment of other symptoms.
+++
Peripheral neuropathy
++
Peripheral neuropathy (PN) refers to all conditions causing nerve damage outside the central nervous system. It can be a mononeuropathy, such as carpal tunnel syndrome; mononeuropathy multiplex involving multiple single nerves in an asymmetric pattern (as in vasculitides); or a polyneuropathy, which is a diffuse symmetric disorder best referred to as PN. It can be classified according to clinical progression as acute, subacute or chronic. The manifestations can be sensory, motor, autonomic or mixed (sensorimotor).
++
Sensory symptoms: tingling, burning, numbness in extremities, unsteady gait (loss of position sense)
Motor symptoms (LMN): weakness or clumsiness in hands, foot/wrist drop
Signs: may be classic ‘glove and stocking’ sensory loss, sensory ataxia, LMN signs—distal muscle wasting, muscle weakness, reflexes absent or depressed, fasciculations
++
Mostly sensory: diabetes mellitus, vitamin deficiency (folate, B1, B6, B12), alcohol, various neurotoxic drugs, leprosy, uraemia (CKF), amyloidosis, malignancy
Mostly motor: lead poisoning, porphyria, various neurotoxic drugs, Charcot–Marie–Tooth syndrome (peroneal muscle atrophy), acquired inflammatory polyneuropathies—acute (Guillain–Barré syndrome) and chronic (chronic inflammatory demyelinating polyneuropathy)
++
Note: In many instances no cause is found despite a full history and examination.
++
Refer to a suitably qualified consultant for diagnosis particularly via electrophysiology.
+++
Acute inflammatory polyradiculoneuropathy (Guillain–Barré syndrome)
++
Guillain–Barré syndrome, which is a rapidly progressive and treatable cause of PN or ascending radiculopathy, is potentially fatal. Early diagnosis of this serious disease by the family doctor is crucial as respiratory paralysis may lead to death. The underlying pathology is segmental demyelination of the peripheral nerves and nerve roots.
++
Weakness in the limbs (usually symmetrical)
Paraesthesia or pain in the limbs (less common)
Both proximal and distal muscles affected, usually starts peripherally and moves proximally
Facial and bulbar paralysis (rare)
Weakness of extraocular muscles (rarely)
Reflexes depressed or absent
Variable sensory loss but rare
++
Within 3–4 weeks the motor neuropathy, which is the main feature, progresses to a maximum disability, possibly with complete quadriparesis and respiratory paralysis.19
++
++
Admit to hospital.
Respiratory function (vital capacity) should be measured regularly (2–4 hours at first).
Tracheostomy and artificial ventilation may be necessary.
Physiotherapy to prevent foot and wrist drop and other general care should be provided.
Treatment is with plasma exchange or IV immunoglobulin (0.4 g/kg/day for 5 days), which may need to be continued monthly.8
Corticosteroids are not generally recommended.
++
About 80% of patients recover without significant disability. Approximately 5% relapse.19
+++
Chronic inflammatory demyelinating polyneuropathy8,20
++
This acquired immunological disorder is similar to Guillain–Barré syndrome except that it has a slower and more protracted course. Diagnosis is by nerve studies and treatment is with corticosteroids, plasmapheresis or IV immunoglobin.
+++
Charcot–Marie–Tooth syndrome
++
This is an inherited autosomal dominant polyneuropathy with an insidious onset from puberty. Clinical features include weakness in the legs, variable distal sensory loss and muscle atrophy giving the ‘inverted champagne bottle’ appearance of the legs. The features vary according to the various subgroups. Refer for electrodiagnostic studies and specific genetic testing.
+++
Familial periodic paralysis
++
An autosomal dominant skeletal muscle disorder. Clinical features:
++
young patient (usually adolescent)
-
day after vigorous exercise awakens with weakness in limbs (for 4–24 hours)
flaccid paralysis/loss of deep tendon reflexes
++
Related to potassium levels—measure during symptoms. Classify as high, low or normal.
++
Myasthenia gravis (MG) is an acquired autoimmune disorder that usually affects muscle strength. Patients have fluctuating symptoms and variable distribution of muscle weakness. All degrees of severity, ranging from occasional mild ptosis to fulminant quadriplegia and respiratory arrest, can occur21 (see TABLE 33.8). It is associated with thymic tumour and other autoimmune diseases, for example, RA, SLE, thyroid and pernicious anaemia.
++
++
Painless fatigue with exercise
Weakness also precipitated by emotional stress, pregnancy, infection, surgery
Variable distribution of weakness:
– ocular: ptosis (60%) and diplopia (see FIG. 33.7); ocular myasthenia only remains in about 10%
– bulbar: weakness of chewing, swallowing, speech (ask to count to 100), whistling and head lolling
– limbs (proximal and distal)
– generalised
– respiratory: breathlessness, ventilatory failure
++
Note: The classic MG image is ‘the thinker’—the hand used to hold the mouth closed and the head up.
++
++
Serum anti-acetylcholine receptor antibodies
Electrophysiological tests if antibody test negative
CT scan to detect thymoma
Edrophonium test still useful but potentially dangerous (atropine is the antidote)
+++
Management principles8,21
++
Refer for consultant management.
Detect possible presence of thymoma with CT or MR scan of thorax. If present, removal is recommended.
Thymectomy is recommended early for generalised myasthenia, especially in all younger patients with hyperplasia of the thymus, even if not confirmed preoperatively.
Plasmapheresis is useful for acute crisis or where temporary improvement is required or patients are resistant to treatment.
Avoid drugs that are relatively contraindicated.
Pharmacological agents:
– anticholinesterase inhibitor drugs (e.g. pyridostigmine, neostigmine or distigmine) should be used only for mild-to-moderate symptoms
– corticosteroids are useful for all grades of MG (should be introduced slowly).
++
Practice tips for myasthenia gravis
The combination of ocular and facial weakness should alert the family doctor to the possibility of a neuromuscular disorder, especially MG or mitochondrial myopathy.20 Look for weakness and fatigue.
Beware of facioscapulohumeral dystrophy.
Ptosis may develop only after looking upwards for a minute or longer.
Smiling may have a characteristic snarling quality.