MND, MS, Parkinsons+ism Flashcards

1
Q

what genes can be involved in MND

A

SOD1 (chromosome 21) , C9orf72

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2
Q

onset MND

A

males around 60

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3
Q

symptoms MND

A

UMN: increased tone, hyperreflexia, spasticy weakness // LMN: fasciculations, wasting, hyporeflexia, weakness

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4
Q

what symptoms are spared in MND

A

eye muscles, cerebellar signs, abdo reflexes

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5
Q

initial symptoms MND

A

LMN signs + hand wasting

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6
Q

most common MND subtype

A

amyotrophic lateral sclerosis

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7
Q

symptoms amyotrophic lateral sclerosis

A

UMN + LMN: hand wasting, weak hands, stumbling, drooling, frontotemporal dementia

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8
Q

where are motor neurones lost in primary lateral sclerosis

A

motor neurones lost from Benz cells in motor cortex

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9
Q

symptoms primary lateral sclerosis

A

UMN signs only - mainly affects limbs, spasticity, no cognitive decline

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10
Q

which cells are lost in progressive spinal muscular atrophy

A

anterior horn cells

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11
Q

symptoms progressive spinal muscular atrophy

A

LMN signs only - affects distal muscles first, weakness, fasciculations

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12
Q

symptoms progressive bulbar palsy

A

UMN + LMN: drooling, can’t chew and swallow, can’t talk

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13
Q

invx MND

A

nerve studies normal // EMG // MRI

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14
Q

mx to slow symptoms MND

A

riluzole (anti-glutamate)

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15
Q

mx symptoms control MND

A

drooling: hyoscine // muscle cramps: baclofen, gabapentin // SOB: lorazepam

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16
Q

resp care MND

A

BIPAP at night

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17
Q

nutritional care MND

A

PEG

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18
Q

what is MS

A

autoimmine disorder –> demyelination of CNS (white tracts) disseminated in time and space

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19
Q

who normally gets MS

A

women, 20-30, higher latitudes (white people), FH: HLA DRB1

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20
Q

what cells are involved in MS

A

CD4 destruction of oligodendrocytes

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21
Q

presentation MS

A

TEAM: tingling (pins and needles, numbness, trigem/ // eyes (optic neuritis, Internuclear ophthalmoplegia) // ataxia (tremor, difficulty walking) MOTOR: weakness

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22
Q

general and autonomic symptoms MS

A

fatigue!! // urinary incontinence, sexual dysfunction, intellectual deterioration

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23
Q

symptoms optic neuritis

A

common presenting MS feature: painful eye movement + decreased colour saturation

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24
Q

symptoms Internuclear ophthalmoplegia

A

impaired CN III, IV, VI function // ipsilateral impaired adduction + contralateral nystagmus // horizontal double vision

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25
Q

weird signs MS

A

Lhermittes: shock down spine + limbs when neck flexed // Uhthoffs phenomenon: worsening vision + symptoms when hot

26
Q

what do active vs chronic plaques look like MS

A

active: pink, perivascular inflamm // chronic: firm and pearly grey,

27
Q

categories of MS least –> most severe

A

relapse remitting // secondary progressive // primary pregrossive // progressive relapsing

28
Q

what is relapse remitting MS

A

most common, acute attacks followed by periods of remission, increased disability after each attack

29
Q

primary progressing MS

A

progressive deterioration no attacks

30
Q

secondary progressive MS

A

starts as relapse remitting then becomes progressive disease

31
Q

progressive - relapsing disease

A

worst - progressive decline superimopsed by acute attacks

32
Q

invx MS

A

MRI: plaques // LP: oligoclonal IgG // delayed evoked potentials

33
Q

antibodies MS

A

anti-MBP, NMO-IGG

34
Q

mx acute relapse MS

A

oral –> IV steroirds for 5 days

35
Q

mx disease modifying drugs MS

A

monoclonal antibodies: natalizumab, ocrelizumab // fingolumod // beta-inteferon // glatiramer acetate

36
Q

mx fatigue MS

A

amantadine

37
Q

ms spaciicty MS

A

baclofen or gabapentin, physio, botox

38
Q

mx bladder dysfunction MS

A

USS: if residual volume catheter // if not oxybutunin

39
Q

pathology of parkinsons diseae

A

degeneration of dopamine neurones is substantia nigra of basal ganglia

40
Q

RF + genes parkinsons

A

men, 65, LRRK2 (dominant), parkin (recessive)

41
Q

parkinsons triad

A

asymmetric bradykinesia, resting tremor, rigidity

42
Q

Hz of parkinsons tremor

A

3-5Hz, improves with movement

43
Q

bradykinesia and gait of parkinsons

A

slow, short suffling gait, difficulty initiating movement, reduced facial expression

44
Q

most common pysch parkinson feature

A

depression

45
Q

most common autonomic parkinson feature

A

postural hypotension + reduced smell

46
Q

parkinsons (cerebellar) exam

A

DANISH: Dysdiadochokinesia, ataxia, nsytagmu, intention tremor, slurred speech, hypotonis

47
Q

how does drug-induced parikinsonism present

A

motor symptoms bilateral // normal rigidity and no tremor

48
Q

parkinsons invx

A

SPECT scan, specialist review

49
Q

1st line mx parkinsons if motor symptoms affecting daily life

A

levodpoa + carbidopa

50
Q

mx parkinsons if motor symptoms NOT affecting daily life

A

1st = dopamine agonist eg Ropinirole, pramipexole, apomorphine // levodopa // MAOB inhibitors eg Selegeline, rasagiline // 2nd = COMTi, amantadine

51
Q

SE levodopa

A

off periods, hallucinations, dry mouth, palipatations, postural hypotension, anorexia

52
Q

what pysch disorder does dopamine agonist therpy increase

A

imoulse control

53
Q

what SE of levodopa is worse at peak dose

A

dyskinesia, dystonia, or chorea

54
Q

when should levodopa be stopped

A

never acutely, if cannot take oral give dopamine rescue parch

55
Q

mx parkinson tremor

A

Antimuscarinics/ anticholinergics eg procyclidine

56
Q

what drugs can cause parkinsonism

A

antipsychotics, metoclopramide, carbon monoxide

57
Q

most common parkinsons + syndromes

A

multiple systems atropy, progressive supranuclear palsy, cortico-basal degeneration, lewy body

58
Q

symptoms progressive supranuclear palsy

A

vertical gaze palsy, postural instability, bradykinesia, cognitive impairment, (tremor OK)

59
Q

symptoms multiple system atrophy

A

autonomic: ED, postural hypotension, bladder, ataxia + cerebellar signs

60
Q

MRI multiple system atrophy

A

hot cross bun

61
Q

cortico-basal degeneration symptoms

A

rigity and weakness one limb, phantom limb sensory loss, apraxia: loss of purposeful movement

62
Q

symptoms lewy body dementia

A

cognitive decline + hallucinations before parkinsonism