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Motor neuron disease Flashcards

1
Q

What is another name for MND?

A

Amyotrophic Lateral Sclerosis (ALS)

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2
Q

What is motor neuron disease?

A

Degeneration of upper and lower motor neurons

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3
Q

What is the cause of MND?

A

Unknown

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4
Q

How does MND progress?

A

It is progressive and usually fatal within 4 years of onset

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5
Q

What is the incidence of MND?

A

1.5/100,000

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6
Q

What is the prevalence of NMD?

A

6/100,000

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7
Q

How does NMD differ from peripheral neuropathies?

A

It is solely motor and not sensory

It involves upper and lower motor neurons

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8
Q

What is the prognosis from onset of MND?

A

50% die within 3-4 years
20% live > 5 years
10% live > 10 years
Occasionally patients live 20 years

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9
Q

What are risk factors for ALS?

A

Older age
Family history
Male gender

Unclear:

Occupational/environmental factors: job, military exposure, metals, pesticides, viruses

Lifestyle: smoking, low BMI, diet, physical exercise, trauma

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10
Q

Why might exercise be causing MND?

A

May be due to over-excitation of the nerves

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11
Q

Why might male gender be a risk factor?

A

May be due to hormones

More common in post-menopausal women

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12
Q

What is the average age of onset of MND?

A

~65 (wide range)

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13
Q

Which race is more likely to get MND?

A

White

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14
Q

What is known about the pathophysiology of MND?

A

ALS kills motor nerve cell, causing muscles to weaken

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15
Q

What does the amyotrophic in ALS refer to?

A

The muscles becoming thinner due to decreased lower motor neuron involvement

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16
Q

What does lateral sclerosis refer to?

A

The whiteness in the cortical spinal tract

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17
Q

What are the main sites affected by ALS?

A

Tongue (bulbar muscles)

Arms

Legs

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18
Q

What causes ALS death?

A

Respiratory muscle functions failing

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19
Q

What are the types of MND?

A

ALS

Progressive muscular atrophy – lower motor neuron

Progressive bulbar palsy – tongue and speech

Primary lateral sclerosis – upper motor neuron

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20
Q

What % of MND patients have a family history?

A

5-10% have family history

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21
Q

TRUE or FALSE?

Very few genes have been identified to be associated with MND

A

FALSE

Many have been identified (both in familial and apparently sporadic)

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22
Q

What are the symptoms of motor neuron disease?

A

Fasiculations
Wasting and weakness of muscles
Brisk reflexes
May have cognitive involvement

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23
Q

What causes fasiculations and muscle wasting?

A

Lower motor neurone degeneration

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24
Q

What causes brisk reflexes?

A

Upper motor neurone degeneration

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25
What is the cognitive involvement similar to?
Frontal dementia
26
What are beginning signs of ALS?
Tripping, trouble buttoning, slowed speech and trouble swallowing
27
Which MND has the best survival?
Primary lateral sclerosis
28
What are the bulbar upper motor neuron signs?
Jaw jerk positive Palatal spasticity Tongue spasticity
29
What are the bulbar lower motor neuron signs?
Facial fasiculations Tongue wasting Palatal weakness and fasiculations
30
What are the cervical upper motor neuron signs?
Increased tone Hyper-reflexia Preserved reflexes in wasted muscles
31
What are cervical lower motor neuron signs?
Fasiculations and weakness Muscle Wasting Absent reflexes
32
What are lumbar upper motor neuron signs?
Increased tone and or extensor plantars Hyper-reflexia Preserved reflexes in wasted muscles
33
What are lumbar lower motor neurone signs?
Fasiculations and weakness Muscle wasting Absent reflexes
34
How do you diagnose MND?
Clinical history Physical examination EMG as support Observe: Progression of symptoms and signs Normal Sensation
35
What should you find on physical examination of MND?
Lower motor neuron signs: weakness, wasting, fasiculations Upper motor neuron signs: spasticity, brisk reflexes
36
Why do we do EMG?
To support findings of active denervation
37
TRUE or FALSE? Upper and lower motor neurone features should be present in more than one region for MND
TRUE
38
What are the criteria used to diagnose ALS and when is it used?
El Escorial criteria For research purposes
39
What tests do you do to rule out other conditions in MND?
``` Electromyogram Nerve conduction studies MRI of head and neck Muscle Biopsy Blood Tests CSF tests Consider DNA analysis ```
40
Why might we do an MRI of head and neck on a suspected ALS patients?
Might be a tumour (speech problems)
41
Is it common to do muscle biopsies in ALS-suspected patients?
No
42
How should CSF tests be in ALS?
Normal
43
TRUE or FALSE? There are blood tests for ALS
FALSE All they have found is increased CK (because of muscle wasting)
44
Which is the most common gene associated with familial ALS and what are some other top ones?
C9orf72 SOD1 - 20% FUS and TARDBP - each 5% There are many others
45
TRUE or FALSE? Sporadic ALS is never associated with specific mutations
FALSE A few have gene mutations like C9orf72
46
What kind of penetrance does C9orf72 have?
Incomplete
47
Which TARDBP is associated with ALS?
TDP43
48
What is the relationship of ALS with other neuropathies and FTD?
ALS has involvement with upper and lower motor neurons while CMT only involves lower ones and hereditary spastic parapalesia upper motor neurones Frontotemporal dementia overlaps with ALS quite a lot
49
Why is there late diagnosis in MND?
It is often mistaken for something else e.g. have to go to ENT clinics for trouble swallowing
50
What are the cognitive features of MND?
``` Behavioural change Emotional lability (not related to dementia) Frontotemporal dementia ```
51
Name the respiratory features of MND?
``` Shortness of breath on exertion Excessive daytime sleepiness Fatigue Early morning headache Un-refreshing sleep Orthopnoea Frequent unexplained chest infections Weak cough and sniff Nocturnal restlessness/ sweating ```
52
What are supporting factors for MND diagnosis?
Asymmetrical features Age - any age can present Family history for MND or other neurodegenerative disease
53
What are factors not supporting an MND diagnosis?
Bladder/bowel involvement Prominent sensory symptoms Improving symptoms
54
What % of MND patient present with bulbar symptoms?
25%
55
What % of MND patient present with limb features?
70%
56
What are bulbar features of MND?
``` Dysarthria Dysphagia Excessive saliva Chocking sensation when lying flat Weak cough ```
57
How can dysarthria present?
Quiet, hoarse or altered speech Slurring of speech when tired
58
What are limb features of MND?
Focal weakness - painless preserved sensation Distal weakness Muscle wasting - hands, shoulders, asymmetrical Muscle twitching and dasiculations Cramps
59
How can distal weakness present?
Fall/trips - from foot drop | Loss of dexterity (problem with zip/buttons)
60
Why do people with NMD have early morning headache?
They don't breathe well at night
61
Which muscles are least affected in MND?
Eye muscles
62
How to care for someone with MND?
Care for person and those that matter around them Improve quality of life and symptom control Respect patient autonomy and choice Emphasis on open and sensitive communication
63
Describe the multidisciplinary care of patients with MND
``` Neurologist MND nurse Dietician Occupational therapist Physiotherapist MND association Respiratory physician Psychologist Speech and language therapist Social worker ```
64
Which symptoms in MND do we manage?
``` Muscle cramps Spasticity Respiratory symptoms Depression Cognition Pain Drooling Dysphagia Communication difficulties ```
65
What is a feature that is dominant and difficult to manage in MND?
Fatigue
66
Why might a person with MND have constipation?
Altered diet Inadequate fluid Lack of mobility
67
How do we treat sialorrhoea?
Anticholingergic drugs Non-pharmacological approaches
68
Name some anticholinergic drugs
– Hyoscine (sublingual or transdermal) – Atropine (orally) – Tricyclic antidepressants (amitriptyline) – Beta-blockers – Glycopyrrolate
69
Name some non-pharmacological approaches to treating sialorrhoea
– Salivary gland irradiation – Salivary duct ligation – Botulinum toxin
70
How do we treat dysphagia?
Speech and language therapists Dietitians PEG (percutaneous endoscopic gastrostomy) RIG (radiologically inserted gastrostomy)
71
How do PEGs work?
A tube is put in so that food is delivered directly to the stomach and a light is used to guide this procedure
72
When should patients get a PEG tube put in?
Earlier on - better survival Because muscles must be preserved
73
How should communication difficulties be treated?
Speech and language therapists Communication aids
74
What is used to treat muscle cramps?
* Quinine * Diazepam * Phenytoin * Naftidrofuryl
75
How do you treat spasticity?
Physiotherapy Specific interventions e.g. low tech equipment, environmental control systems Drug treatment
76
What drugs treat spasiticity and what do they do?
– Baclofen – Dantrolene – Tizanidine work by reducing excitability
77
How do we treat respiratory symptoms?
NICE guidance Non-invasive respiratory support - e.g. for nocturnal hypoventilation (rare) symptomatic treatment - e.g. opioids Breathing Space Kit (MNDA) Invasive ventilation
78
How do we treat depression and emotional lability?
* Amitriptyline * SSRIs (selective serotonin re-uptake inhibitors) e.g. fluoxetine * Psychiatric guidance
79
How do we treat pain?
• Anti-spasticity drugs • Non-steroidal agents Pain * Analgesics - including oral morphine or transdermal fentanyl patches * Principles of pain management include the WHO Ladder * Physiotherapy * Occupational therapy
80
What kinds of care planning can be done in advance?
* Advance directives * Palliative care * Multidisciplinary management * End of life care * Bereavement
81
What is the only licensed disease modifying med for ALS?
Riluzole (glutamate release inhibitor)
82
What are potential treatments for ALS?
Edaravone: Antioxidant treatment - only in Japan Masitinib: tyrosine kinase inhibitor (targets mast cells and macrophages) - probably doesn't work

Neuro (23 decks)

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