Neurological Disease Flashcards

(157 cards)

1
Q

What is the most significant alteration of the neurological system in the community?

A

Cerebrovascular disorders, primarily stroke

Stroke is also referred to as ‘brain attack’ due to its urgency similar to heart attacks

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2
Q

What are the two types of brain abnormalities caused by cerebrovascular disease?

A
  • Ischaemic (with or without infarction)
  • Haemorrhagic (including vessel wall abnormalities or rupture)

Stroke is the most common clinical manifestation of cerebrovascular disease

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3
Q

What is the leading cause of disability in Australia and New Zealand?

A

Stroke (cerebrovascular accident, CVA)

Stroke is the third highest cause of death in Australia

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4
Q

What are the risk factors that increase the likelihood of having a stroke?

A
  • Hypertension
  • Type 2 diabetes mellitus

Individuals with both conditions are four times more likely to have a stroke

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5
Q

What is a cerebral infarct?

A

Death of neurons due to insufficient blood flow

A cerebral infarction is another name for a stroke

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6
Q

What are the two main classifications of stroke based on pathophysiology?

A
  • Ischaemic
  • Haemorrhagic

Ischaemic strokes account for 75–85% of all strokes

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7
Q

What is a thrombotic stroke?

A

A blockage inside a blood vessel supplying brain tissue

Blockages are often formed by fatty plaques through atherosclerosis

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8
Q

What is a transient ischaemic attack (TIA)?

A

A short-term event with blockage lasting less than 24 hours, causing temporary symptoms

TIAs are warning signs for cerebrovascular disease

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9
Q

What are lacunar infarcts?

A

Small ischaemic strokes affecting small cerebral arteries

They are associated with hypertension, smoking, and diabetes mellitus

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10
Q

What characterizes an embolic stroke?

A

Fragments that break from a thrombus formed outside the brain

A common source is a clot from the heart in atrial fibrillation

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11
Q

What is the difference between intracerebral and subarachnoid haemorrhage?

A
  • Intracerebral haemorrhage: bleeding within the brain, often due to hypertension
  • Subarachnoid haemorrhage: bleeding into the subarachnoid space, causing increased intracranial pressure
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12
Q

What are the two main types of haemorrhagic stroke?

A
  • Intracerebral haemorrhage
  • Subarachnoid haemorrhage

Intracerebral haemorrhage accounts for 10–15% of strokes; subarachnoid accounts for 5%

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13
Q

What are the non-modifiable risk factors for stroke?

A
  • Age
  • Gender
  • Family history of stroke
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14
Q

What are some medical stroke risk factors?

A
  • Transient ischaemic attack (TIA)
  • Ischaemic heart disease
  • Atrial fibrillation
  • Diabetes
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15
Q

What are the non-modifiable risk factors for stroke?

A
  • Age
  • Gender
  • Family history of stroke

Non-modifiable factors cannot be changed and are inherent characteristics.

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16
Q

What are the medical risk factors for stroke?

A
  • Transient ischaemic attack (TIA)
  • Ischaemic heart disease
  • Atrial fibrillation
  • Diabetes
  • Rheumatic or valvular heart disease

These factors increase the likelihood of having a stroke.

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17
Q

List the lifestyle risk factors for stroke that are modifiable.

A
  • Hypertension
  • Dyslipidaemia
  • Cigarette smoking
  • Obesity
  • Poor diet
  • Lack of exercise
  • Excessive alcohol consumption

Modifiable factors can be changed through lifestyle adjustments.

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18
Q

What is the most important modifiable risk factor for stroke?

A

Hypertension

Hypertension is a major risk factor for both ischaemic and haemorrhagic stroke.

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19
Q

What does the FAST test stand for in stroke recognition?

A
  • Face
  • Arms
  • Speech
  • Time

The FAST test helps identify potential stroke symptoms quickly.

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20
Q

What are common symptoms of ischaemic stroke?

A
  • Weakness, numbness or paralysis
  • Difficulty speaking or understanding
  • Dizziness or loss of balance
  • Loss of vision
  • Severe headache
  • Difficulty swallowing

Symptoms vary based on the affected area of the brain.

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21
Q

What is a thunderclap headache associated with?

A

Haemorrhagic stroke

This type of headache indicates a potential ruptured aneurysm.

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22
Q

What is the ABCD2 score used for?

A

Predicting early risk of stroke after a TIA

The score assesses age, blood pressure, clinical features, duration of symptoms, and diabetes.

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23
Q

What is the maximum score for the ABCD2 scoring system?

A

7

A score above 4 indicates high risk for subsequent stroke.

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24
Q

What is the recommended time frame for administering tPA in ischaemic stroke?

A

Within 4.5 hours, preferably less than 3 hours

tPA is a thrombolytic therapy crucial for treating ischaemic stroke.

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25
What should be done if a stroke is determined to be haemorrhagic?
Do not administer thrombolytic therapy ## Footnote Thrombolytic therapy can worsen a haemorrhagic stroke.
26
What are some complications to prevent in stroke patients?
* Aspiration pneumonia * Nosocomial infections * Deep venous thrombosis * Pulmonary embolism ## Footnote Prevention of complications is crucial for recovery.
27
What is the primary goal in the management of a stroke patient?
Restoration of adequate blood flow and prevention of ischaemic injury ## Footnote Timely intervention is critical for improving outcomes.
28
What are the signs of a subarachnoid haemorrhage?
* Sudden explosive headache * Nausea and vomiting * Visual disturbances * Loss of consciousness ## Footnote These symptoms indicate a serious condition requiring immediate medical attention.
29
True or False: The symptoms of haemorrhagic stroke can appear immediately.
False ## Footnote Symptoms may take up to 30 minutes to develop after the initial injury.
30
What is the role of nurses in stroke management?
* Maintain adequate airway * Control fever * Assess swallowing * Monitor cardiac function * Manage blood pressure * Prevent complications ## Footnote Nurses play a crucial role in the multidisciplinary team for stroke care.
31
Fill in the blank: Stroke risk factors include medical, lifestyle, and _______ factors.
non-modifiable ## Footnote Non-modifiable risk factors are those that cannot be changed.
32
What is the purpose of managing patients in a stroke unit?
Close monitoring by nurses with expertise in the stroke population ## Footnote This includes prevention of complications such as infections and facilitating early mobilization.
33
What long-term evaluation is necessary for stroke survivors?
Assessment for dysphagia ## Footnote Dysphagia may require nasogastric or enteral nutrition if swallowing is not functional.
34
What is urinary incontinence?
Involuntary leakage of urine ## Footnote This condition may require a combination of exercise and medication for management.
35
What percentage of stroke patients may experience faecal incontinence?
One-third ## Footnote This improves over time, with only 11% remaining incontinent after several months.
36
Which allied health professionals are involved in post-acute stroke rehabilitation?
* Physiotherapist * Occupational therapist * Speech pathologist * Dietitian * Social worker * Psychologist ## Footnote Each plays a crucial role in the recovery process of stroke survivors.
37
What is a cerebral aneurysm?
A weakness in the wall of an artery supplying the brain, resulting in a dilated pouch ## Footnote This can lead to an intracranial bleed if ruptured.
38
What are the common causes of cerebral aneurysms?
* Hypertension * Familial connective tissue disorders * Arteriovenous malformation * Trauma * Inflammation * Localised vasospasm ## Footnote Cocaine use is also associated with vasospasm leading to aneurysms.
39
What is the peak incidence age for cerebral aneurysm rupture?
50 to 60 years ## Footnote The incidence is slightly higher in women than in men.
40
What types of aneurysms are classified by morphology?
* Saccular aneurysms (berry aneurysms) * Fusiform aneurysms * Traumatic aneurysms * Mycotic aneurysms * Charcot-Bouchard aneurysms * Dissecting aneurysms ## Footnote Each type has distinct characteristics and causes.
41
What is the Hunt and Hess classification used for?
Classifying subarachnoid haemorrhages based on clinical manifestations ## Footnote It helps assess the severity and prognosis.
42
What are the symptoms of a ruptured cerebral aneurysm?
Acute subarachnoid haemorrhage, severe headache, nausea, vomiting, loss of consciousness ## Footnote Thunderclap headache is a common symptom.
43
What is an arteriovenous malformation (AVM)?
A tangled mass of dilated blood vessels creating abnormal channels between cerebral arteries and veins ## Footnote AVMs can lead to serious complications like hemorrhage.
44
What are the characteristic symptoms of an AVM?
* Chronic headache * Seizures * Reduced consciousness * Nausea ## Footnote Symptoms can mimic those of a ruptured aneurysm.
45
What diagnostic tools are used for confirming an AVM?
* CT scan * MRI * MRA (magnetic resonance angiography) ## Footnote MRI is particularly sensitive for medium to large AVMs.
46
What is the difference between primary and secondary headaches?
Primary headaches have no identifiable structural abnormalities, while secondary headaches are associated with underlying conditions ## Footnote Examples of secondary headaches include those due to trauma or infections.
47
What is the most common type of primary headache?
Tension-type headache ## Footnote Affects over 70% of some populations.
48
What is a migraine?
A common neurological condition characterized by episodic disabling headache, often with an aura ## Footnote Migraine affects 10-15% of adults and is more prevalent in women.
49
What triggers migraines?
* Sleep disturbances * Hormonal alterations * Food sensitivities * Altered blood glucose levels ## Footnote Triggers can vary significantly among individuals.
50
What are cluster headaches characterized by?
Severe, unilateral pain with clusters of attacks lasting 15 to 180 minutes ## Footnote They are often associated with restlessness.
51
What is the role of the trigeminal nerve in migraines?
It is linked to the neurogenic inflammation causing head pain ## Footnote The trigeminal nerve innervates cerebral vasculature and the meninges.
52
What are common migraine triggers in paediatric patients?
Stress, lack of sleep, duration of exposure to electronic screens ## Footnote These triggers may vary among individuals.
53
Why might avoiding migraine triggers be impractical?
The role of triggers in stimulating activation of the painful sensations remains unclear ## Footnote This suggests that triggers may not directly cause migraines.
54
What is the relationship between migraine and neurogenic inflammation?
Migraine seems to relate to neurogenic inflammation of the trigeminal nerve ## Footnote The trigeminal nerve innervates cerebral vasculature and the meninges.
55
What causes the 'head' pain in migraines?
1. Hyperactivation of the meningeal or vascular branches of the trigeminal nerve 2. Central sensitisation of nociceptive pathways ## Footnote This explains the throbbing pain and sensory abnormalities in migraines.
56
What explains the throbbing pain associated with migraines?
Hyperactivation of the meningeal or vascular branches of the trigeminal nerve ## Footnote This is linked to the trigeminal nerve's role in migraine pain.
57
What role does the periaqueductal grey system play in migraines?
It is involved in the central sensitisation of nociceptive pathways ## Footnote This pathway likely transmits pain signals to thalamic regions.
58
True or False: NSAIDs are effective for all patients in resolving migraine symptoms.
False ## Footnote Some patients may find NSAIDs ineffective for their symptoms.
59
What is traumatic brain injury (TBI)?
A type of acquired brain injury caused by a blow to the head or rapid head movement, often with loss of consciousness ## Footnote Common causes include motor vehicle accidents, falls, assaults, sporting accidents, and gunshot wounds.
60
What are the two classes of brain injuries?
Focal brain injuries and diffuse axonal injuries ## Footnote Focal injuries are localized, while diffuse injuries are widespread.
61
What is the primary brain injury?
The damage that occurs at the moment of trauma, such as contusion and blood vessel tearing.
62
What is a contusion?
Injury to brain tissue without breaking the inner pia mater, often resulting from focal brain injury.
63
Define coup injury.
Injury is directly below the site of forceful impact.
64
Define contrecoup injury.
Injury occurs on the opposite side of the brain from the site of forceful impact.
65
What is an intracranial haematoma?
A clotted mass of blood contained within brain tissues, often resulting from traumatic brain injury.
66
What are epidural haematomas?
Bleeds arising from arteries or veins between the dura mater and the inner surface of the skull, occurring in approximately 10% of traumatic brain injury cases.
67
What characterizes subdural haematomas?
Collection of blood between the dura and arachnoid layers, can be acute or chronic.
68
What are the common symptoms of acute subdural haematomas?
Headache, drowsiness, confusion, restlessness, and nausea ## Footnote Symptoms can progress to loss of consciousness and pupillary dilation.
69
What is diffuse axonal injury (DAI)?
Injury to axons resulting from high levels of deceleration and rotation forces, often seen in road traffic crashes.
70
What are some clinical manifestations of focal brain injury?
Loss of consciousness, loss of reflexes, absence of breathing, slowed heart rate, decreased blood pressure.
71
What are the common consequences of diffuse brain injury?
* Physical consequences: spastic paralysis, peripheral nerve injury, dysphagia, dysarthria, visual and hearing impairments * Cognitive deficits: disorientation, memory deficits, learning difficulties * Behavioral manifestations: agitation, impulsiveness, social withdrawal.
72
What is a common result of diffuse axon injury?
Concussion resulting in altered consciousness and altered neuronal activity.
73
True or False: Males are less likely to be hospitalized for traumatic brain injury compared to females.
False.
74
Fill in the blank: Blunt traumas involve the head striking a _______ surface.
hard
75
What is the typical timeframe for the peak effects of secondary injuries after severe head injury?
Approximately 18–36 hours.
76
What is the Glasgow Coma Scale (GCS)?
A scale used to assess consciousness level in individuals after a brain injury.
77
What is the significance of the Cushing reflex?
It indicates increased intracranial pressure, characterized by hypertension, bradycardia, and respiratory distress.
78
What are common cognitive deficits associated with brain injury?
Confusion, short attention span, memory deficits, learning difficulties, dysphasia, poor judgement, perceptual deficits ## Footnote These cognitive deficits can manifest in various ways depending on the severity and location of the brain injury.
79
What are some behavioral manifestations of brain injury?
Agitation, impulsiveness, blunted affect, social withdrawal, depression ## Footnote Behavioral changes can significantly impact the patient's social interactions and overall quality of life.
80
What is the most common result of diffuse axon injury?
Concussion resulting in altered consciousness and altered neuronal activity ## Footnote Concussions can vary in severity and impact on cognitive function.
81
Define mild concussion.
Characterised by immediate but temporary clinical manifestations, including CSF pressure rises and ECG and EEG changes, without loss of consciousness ## Footnote Symptoms can last from a few minutes to several days.
82
What is retrograde amnesia?
Memory loss for events prior to the trauma ## Footnote This type of amnesia is commonly associated with concussions.
83
What are the grades of cerebral concussion based on?
Inertial loading (acceleration or head motion injury) and contact effects ## Footnote Grades I to III indicate increasing severity and duration of symptoms.
84
What characterizes Grade I concussion?
Transient confusion with no loss of consciousness; symptoms last up to 15 minutes ## Footnote This is the mildest form of concussion.
85
What characterizes Grade II concussion?
Transient confusion but no loss of consciousness; symptoms last more than 15 minutes ## Footnote This grade indicates a moderate level of concussion.
86
What characterizes Grade III concussion?
Any loss of consciousness typically between seconds and minutes, with a range of symptoms ## Footnote Symptoms can be physical, sensory, and cognitive.
87
What is diffuse axonal injury?
Diffuse cerebral injury that produces prolonged coma due to trauma ## Footnote This is a more severe form of concussion resulting from significant trauma.
88
Describe the symptoms of classic cerebral concussion.
Loss of consciousness for up to 6 hours, confusion lasting for hours to days, headaches, nausea, mood changes ## Footnote Reflexes may fail, and vital signs may temporarily normalize.
89
What is the Glasgow Coma Scale used for?
To clinically assess the degree of brain injury ## Footnote It scores from 3 (no responses) to 15 (no gross abnormalities).
90
What is the primary treatment for haematomas?
Depends on location; epidural haematomas are treated with surgical ligation, while chronic subdural haematomas require craniotomy ## Footnote Treatment aims to control ICP and manage symptoms.
91
What is spinal shock?
Normal activity of cells within the spinal cord ceases after cord injury, causing loss of reflex function below the lesion ## Footnote Reflex activity may return after days to months.
92
What is autonomic dysreflexia?
An excessive sympathetic nervous system response to noxious stimuli below the level of the lesion ## Footnote It is a life-threatening condition requiring immediate treatment.
93
What is the most common cause of autonomic dysreflexia?
A distended bladder or impacted rectum ## Footnote Other sensory stimulations can also trigger this condition.
94
What are neurofibrillary tangles?
Intracellular clumping of proteins in the microtubules surrounding the nucleus, leading to neuron cell death ## Footnote This is one of the key changes observed in Alzheimer’s disease.
95
What are senile plaques?
Extracellular accumulations of beta-amyloid that disrupt nerve-impulse transmission ## Footnote These plaques are associated with the degeneration of nerve cells in Alzheimer’s disease.
96
What is the significance of glutamate and acetylcholine levels in Alzheimer’s disease?
Increased levels of glutamate and decreased levels of acetylcholine are typically observed ## Footnote These neurotransmitter changes are linked to memory loss and cognitive dysfunction.
97
What is the projected number of Australians with dementia by 2050?
900,000 Australians ## Footnote This reflects the increasing prevalence of dementia in the aging population.
98
What typically characterizes the pathophysiology of Alzheimer's disease?
Decreased brain size (cortical atrophy) and loss of neuronal synapses ## Footnote These changes contribute to the cognitive decline observed in patients.
99
In which areas of the brain are senile plaques and neurofibrillary tangles more concentrated?
Cerebral cortex, hippocampus, and amygdala ## Footnote These areas are associated with memory and cognitive processes.
100
How is the decline in memory and cognitive processes related to Alzheimer's disease?
It is directly related to the number of microscopic abnormalities, such as plaques and tangles ## Footnote Postmortem examinations show a correlation between these abnormalities and cognitive decline.
101
True or False: The aetiology of Alzheimer's disease is well understood.
False ## Footnote The cause of Alzheimer's disease remains unknown, but links to type 2 diabetes have been suggested.
102
What relationship has been observed between type 2 diabetes and Alzheimer's disease?
Poor blood glucose control is linked to the development and severity of Alzheimer's disease ## Footnote This suggests a potential connection between metabolic disorders and neurodegenerative diseases.
103
What are some early clinical manifestations of Alzheimer's disease?
Forgetfulness, emotional upset, confusion, and disorientation ## Footnote These vague symptoms can complicate early diagnosis.
104
List some behavioral changes associated with Alzheimer's disease.
* Decline in activities of daily living * Irritability * Agitation * Restlessness * Mood swings ## Footnote Changes can include both negative and positive mood shifts.
105
What diagnostic methods are used for confirming Alzheimer's disease?
* Mental status examination * Brain imaging (CT, MRI, PET) * Olfactory testing ## Footnote Diagnosis often occurs at an advanced stage due to the gradual onset of symptoms.
106
What medications are used in the treatment of Alzheimer's disease?
* Donepezil * Galantamine * Rivastigmine * Memantine ## Footnote These medications aim to manage symptoms but do not repair neuronal damage.
107
What is Parkinson's disease characterized by?
Selective loss of neurons that secrete dopamine in the basal nuclei ## Footnote This leads to motor control issues and is a common cause of neurological disability.
108
What is the average age of diagnosis for Parkinson's disease?
Between 55 and 65 years ## Footnote Some familial forms can be diagnosed as early as age 15.
109
What are the classic triad symptoms of Parkinson's disease?
* Bradykinesia * Resting tremor * Postural instability ## Footnote These symptoms result from dopamine depletion in the brain.
110
How is the diagnosis of Parkinson's disease primarily made?
Based on history and physical examination ## Footnote MRI and SPECT imaging can support the diagnosis but are not commonly used.
111
What treatment options are available for Parkinson's disease?
* Levodopa * Carbidopa * Deep brain stimulation ## Footnote Treatment is symptomatic and may include a multidisciplinary approach.
112
True or False: Huntington's disease is an autosomal recessive disorder.
False ## Footnote Huntington's disease is inherited as an autosomal dominant trait.
113
What is the principal pathological feature of Huntington's disease?
Severe degeneration within the basal nuclei affecting neurons that send inhibitory signals ## Footnote This leads to excessive motor output and abnormal movements.
114
What are the classic manifestations of Huntington's disease?
* Abnormal movement (chorea) * Progressive dysfunction of intellectual processes (dementia) ## Footnote Chorea typically begins in the fingers and progresses throughout the body.
115
What is the main treatment for managing symptoms of Huntington's disease?
A combination of pharmacological and non-pharmacological therapies ## Footnote Tetrabenazine is one drug used to manage movement symptoms.
116
What is multiple sclerosis (MS)?
A disorder involving inflammation and destruction of myelin of axons within the CNS ## Footnote MS affects the central nervous system and can lead to various neurological symptoms.
117
What is the term requirement for palliative care?
Tetrabenazine depletes dopamine stores in the brain ## Footnote Dosage must be slowly titrated to avoid Parkinson’s-like syndrome and depression
118
What is the prevalence of multiple sclerosis in Australia?
Approximately 2.4 per 100,000 people
119
What initiates the autoimmune process in multiple sclerosis?
Environmental factors in genetically susceptible individuals ## Footnote Factors may include viruses, toxins, or UV light
120
What are the pathological features of multiple sclerosis?
* Interaction between the immune system and the CNS * Demyelination of the white matter
121
What characterizes the acute stage of multiple sclerosis?
Demyelination with inflammatory oedema
122
What are the major manifestations of multiple sclerosis?
Loss of coordination, speech difficulties, tremor, fatigue, sight impairments, memory lapses, vertigo, weakness, impaired sensation ## Footnote See Box 9.2 for a detailed list
123
What are paroxysmal attacks in multiple sclerosis?
Sudden recurrence of sensory or motor symptoms with abrupt onset and short duration
124
What is Lhermitte’s sign?
Momentary paraesthesia during neck flexion
125
What is the primary method for diagnosing multiple sclerosis?
MRI is the most sensitive method available
126
What are the three purposes of treating multiple sclerosis?
* Managing relapses * Reducing frequency of relapses * Managing symptoms
127
What is motor neuron disease also known as?
Amyotrophic lateral sclerosis (ALS) or Lou Gehrig’s disease
128
What is the average duration of life for someone with motor neuron disease?
Approximately 2–3 years from the appearance of symptoms
129
What is the main pathological feature of motor neuron disease?
Degeneration of motor neurons in the cortex, brainstem, and spinal cord
130
What are the common symptoms of myasthenia gravis?
Rapid fatigue and muscle weakness ## Footnote Affects approximately 3 in every 100,000 people in Australia
131
What is the pathophysiological mechanism of myasthenia gravis?
Destruction of acetylcholine receptors at the neuromuscular junction
132
What is Guillain-Barré syndrome?
An acute inflammatory autoimmune disease that destroys the myelin sheath of peripheral nerves
133
What are common clinical manifestations of Guillain-Barré syndrome?
* Muscle weakness * Paralysis * Paraesthesias * Respiratory muscle weakness
134
What is the main treatment for Guillain-Barré syndrome?
Plasmapheresis and intravenous immunoglobulin
135
What is the most common cause of autoimmune diseases like Guillain-Barré syndrome?
Complex interactions of the immune system and infections
136
What is the typical onset of symptoms in myasthenia gravis?
Insidious onset with initial complaints of muscle fatigue and weakness
137
What is a myasthenic crisis?
Severe muscle weakness causing respiratory insufficiency and difficulty swallowing
138
What occurs during a myasthenic crisis?
Severe muscle weakness leading to extreme quadriplegia, respiratory insufficiency, and difficulty in swallowing ## Footnote The individual is in danger of respiratory arrest.
139
What causes cholinergic crisis?
Anticholinesterase drug toxicity ## Footnote It results in excessive accumulation of acetylcholine at the neuromuscular junctions.
140
List symptoms of cholinergic crisis.
* Increased intestinal motility * Diarrhoea * Cramping * Fasciculation * Bradycardia * Pupillary constriction * Increased salivation * Increased sweating ## Footnote These symptoms are due to smooth muscle hyperactivity.
141
What is the primary method for diagnosing myasthenia gravis?
History, physical examination, and laboratory testing including antibody levels for acetylcholine receptors ## Footnote Repetitive nerve stimulation and single-fibre electromyography are also used.
142
What does single-fibre electromyography detect?
Delay or failure of neuromuscular transmission in pairs of muscle fibres ## Footnote It is part of the diagnostic process for myasthenia gravis.
143
What are the four treatment options for myasthenia gravis?
* Anticholinesterase drugs (e.g., edrophonium) * Immunosuppressive therapy (e.g., corticosteroids, tacrolimus, monoclonal antibodies) * Plasmapheresis * Thymectomy if a thymoma is present ## Footnote Anticholinesterase drugs enhance neuromuscular transmission.
144
How does myasthenia gravis typically progress?
Starts as a mild case that remits, followed by relapses and symptom-free intervals, potentially leading to death ## Footnote The disease can progress over time.
145
True or False: In cholinergic crisis, anticholinergic drugs should be immediately administered.
False ## Footnote Anticholinergic drugs are withheld until blood levels fall out of the toxic range.
146
Fill in the blank: The individual in myasthenic crisis is in danger of _______.
respiratory arrest
147
What is Duchenne muscular dystrophy?
A genetic disease characterized by progressive muscle weakness due to the absence of the protein dystrophin ## Footnote Duchenne muscular dystrophy is part of a group of diseases known as dystrophinopathies.
148
What type of genetic inheritance does Duchenne muscular dystrophy exhibit?
X-linked recessive ## Footnote Only males are affected since they have one X chromosome.
149
What are dystrophinopathies?
A spectrum of muscle diseases caused by the absence of the muscle protein dystrophin ## Footnote Includes Duchenne muscular dystrophy and Becker muscular dystrophy.
150
What is the role of dystrophin in muscle cells?
Necessary for healthy skeletal muscle cell function ## Footnote Dystrophin protects muscle cells from damage.
151
What are the consequences of a fault in the dystrophin gene?
Little or no dystrophin is produced, leading to muscle cell damage ## Footnote This damage accumulates over time, resulting in muscle weakness.
152
What is the primary symptom of Duchenne muscular dystrophy?
Progressive muscle weakness ## Footnote Symptoms worsen over time.
153
What percentage of individuals with mutations in the dystrophin gene experience neurological deficits?
One third ## Footnote Includes learning difficulties.
154
How is the diagnosis of Duchenne muscular dystrophy confirmed?
By elevated serum enzyme creatinine kinase (CK) levels ## Footnote CK levels are elevated >20x the normal level due to muscle tissue degeneration.
155
Is there a cure for Duchenne muscular dystrophy?
No cure exists ## Footnote Genetic counselling is advised.
156
What is the primary goal of treatment for Duchenne muscular dystrophy?
To maintain as much muscle function as possible ## Footnote Activity is encouraged, but strenuous exercise may worsen muscle damage.
157
What treatments can be used for Duchenne muscular dystrophy?
Steroid use, range-of-motion exercises, bracing, and surgical release of contracture deformities ## Footnote These treatments aim to manage symptoms and maintain muscle function.