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Neurology > Motor Neurone Disease > Flashcards

Motor Neurone Disease Flashcards

1
Q

What symptoms is bulbar onset associated with?

A
  • Loss of voice

* Swallowing problems

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2
Q

What symptoms do people with cognitive onset present with?

A

Fronto-temporal Dementia – aggressive, disinhibited

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3
Q

Name 4 high penetrance mutations in MND.

A
  • C9orf72
  • SOD1
  • TARDBP
  • FUS
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4
Q

What is MND?

A

An untreatable and rapidly progressive neurodegenerative condition

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5
Q

What type of diagnosis is MND?

A

Mostly clinical

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6
Q

What does MND present with?

A

Muscle weakness and wasting (secondary to motor neuron degeneration)

Potentially problems with speech, swallowing and breathing problems

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7
Q

To be MND, there must be what?

A

Upper +/- lower motor neurone signs, WITHOUT sensory problems

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8
Q

What is the onset and progression of MND like?

A

Focal onset, and continuous spread, then finally generalized paresis

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9
Q

MND exhibits various clinical __________?

A

PHENOTYPES

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10
Q

What is the most common type of MND?

A

Amyotrophic Lateral Sclerosis (ALS)

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11
Q

COGNITIVE IMPAIRMENT is a feature of MND.

A

TRUE

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12
Q

What is the average survival time with MND?

A

3 years

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13
Q

What is the lifetime risk of developing MND?

A

1 in 400

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14
Q

Is MND more common in males or females?

A

Males

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15
Q

What % of MND is sporadic?

A

90%

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16
Q

What % of MND is familial?

A

10%

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17
Q

What is the relationship between sporadic MND and age?

A

Sporadic MND peaks at the ages of 50-75 years, and declines after the age of 80

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18
Q

In what population is ALS less common in?

A

Non- Caucasian

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19
Q

Outline the UMN signs of MND.

A
  • Increased tone
  • Hyper-reflexia
  • Extensor plantar responses
  • Spastic gait
  • Exaggerate jaw-jerk
  • Slow movements
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20
Q

Outline the LMN signs of MND.

A
  • Muscle wasting
  • Fasciculations
  • Weakness
  • Absent or reduced reflexes
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21
Q

What % of cases of MND onset in the i) extremities ii) bulbar region iii) thoracic region?

A

i) 70%.
ii) 25%.
iii) 2%.

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22
Q

Of MND that begins in the extremities, is this more likely to be in the upper or lower extremities?

A

UPPER

23
Q

At onset, what % of cases are associated with i) UMN ii) LMN iii) frontal/cognitive deficits?

A

i) 10%.
ii) 90%.
iii) 5%.

24
Q

What is the most common MND phenotype?

A

ALS

25
Q

Does ALS have UMN or LMN symptoms?

A

BOTH

26
Q

Does primary lateral sclerosis have UMN or LWM symptoms?

A

UMN

27
Q

Does progressive muscular atrophy have UMN or LMN symptoms?

A

LMN + subclinical UMN in 30%

28
Q

Does ALS- frontotemporal dementia have LMN or UMN signs?

A

BOTH

29
Q

Primary lateral sclerosis has a _____ prognosis

A

GOOD

30
Q

There is a link between ALS and what type of dementia? What is this underpinned by?

A

Frontotemporal Dementia (FTD)

Underpinned by discovery of C9ORF hexanucleotide repeat expansions

31
Q

What is ‘split hand syndrome’ in MND?

A

Preferential wasting of the thenar group  a typical pattern of atrophy seen in ALS

32
Q

What features must be present for a diagnosis of clinically definite ALS to be made?

A
  • UMN and LMN signs in bulbar AND at least two spinal (lumbosacral, thoracic or cervical) regions

or

  • UMN and LMN signs in three spinal regions
33
Q

What features should be present for a diagnosis of clinically probable ALS to be made?

A
  • UMN and LMN signs in at least 2 regions (bulbar or spinal), with some UMN signs rostral to the LMN signs
34
Q

What are the features of clinically probably ALS (lab supported)?

A
  • Clinical evidence of upper and lower motor neurone signs in one body region.
    or
  • Of UMN signs in one region
    AND
    *EMG findings of LMN involvement in at least two body regions
35
Q

What are the features of clinically possible ALS?

A 
* UMN and LMN signs in only the bulbar or only one spinal region. 
or
* UMN signs in two or more regions. 
or
* LMN signs rostral to UMN signs
36
Q

In what % of patients is there primary bulbar onset?

A

25%

37
Q

Who tends to be affected by primary bulbar MND?

A

Women > men

60-80 years old

38
Q

What always results from primary bulbar MND?

A

Generalisation into ALS

39
Q

Suggest therapeutic interventions for primary bulbar MND.

A

Early communicator.
Nutritional support.
Care for URT.

40
Q

A diagnosis of MND is a diagnosis of _________

A

EXCLUSION

41
Q

What is the broad phenotype of MND due to?

A
  • Site of onset

* Regions involved

42
Q

What is the consensus clinical criteria for MND?

A

UMN signs +/- LMN signs WITHOUT any sensory symptoms

43
Q

What are the potential types of MND?

A
  • Classic MND (or Amyotrophic lateral sclerosis ALS)
  • Progressive Muscular Atrophy (PMA)
  • Primary Lateral Sclerosis (PML)
  • Syndromes of MND and frontotemporal dementia (FTD-MND)
  • Progressive Bulbar Palsy
  • Flail Limb
44
Q

State 3 frequent misdiagnosis of MND?

A

Carpal tunnel syndrome.
Stroke.
Neuropathy.

45
Q

What UMN signs are associated with MND? (make sure to mention bulbar, cervical and lumbar region and abdominal region signs)

A
  • Spasticity
  • Babinski sign
  • Bulbar UMN Signs:
    Exaggerated snout reflex. Clonic Jaw Jerk. Emotional Lability. Forced Jaw Opening
  • Cervical and Lumbar Region:
    Clonic Deep Tendon Reflexes. Preserved Reflex in a Weak, Wasted Limb. Hoffmann Reflex. Hyper-reflexia
  • Abdominal Region:
    Loss of superficial abdominal reflexes
46
Q

What medication is used in MND?

A

Riluzole

47
Q

How are communication needs met in MND?

A

Speech therapy

* Technology from tablets to ‘voice banking’)

48
Q

How are nutritional needs met in MND?

A
  • Gastrostomy

* Dietetics

49
Q

How are resp needs met in MND?

A
  • Assessment

* Home ventilation

50
Q

What have been identified as the pathological signature in 95% of cases?

A

TDP43 inclusions

51
Q

Of the newly discovered causative monogenetic mutations, what is the most common?

A

The intronic hexanucleotide repeat expansion C9ORF72

52
Q

What does C9ORF72 account for?

A

10% of the sporadic cases, and is very common in familial forms

53
Q

What % of MND cases are now classified as monogenetic?

A

10-15%

Neurology (42 decks)

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