Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Neurology > Motor Neuron Disease > Flashcards

Motor Neuron Disease Flashcards

1
Q

Upper motor neuron signs

A 
increased tone
hyperreflexia
extensor plantar response
spastic gait
exaggerated jaw jerk
slowed movements
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

lower motor neuron signs

A

muscle wasting
weakness
fasciculations
absent or reduced deep tendon reflexes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

upper motor neuron

A

brain and spinal cord

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

lower motor neuron

A

exiting spinal nerve

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

types of MND

A 
Amyotrophic lateral sclerosis (ALS)
Hereditary spastic paraplegia (HSP)
primary lateral sclerosis (PLS)
progressive muscular atrophy (PMA)
Progressive bulbar palsy (PBP)
pseudobulbar palsy 
Spinal Muscular Atrophy (SMA)
Fredrich's ataxia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

reflexes in UMN

A

higher inhibition over reflex arc is lost causing excessive firing from alpha motor neuron = exaggerated deep tendon reflexes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

reflexes in LMN lesion

A

alpha motor neuron distally is injured, loop isn’t completed = no reflex

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

muscle bulk in LMN lesion

A

wasting as no innervation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

muscle bulk in UMN lesion

A

muscle still contracts locally even if higher innervation lost, passive movement preserves bulk

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

tone in UMN lesion

A

exaggerated as modulation of gamma neuron is lost so nerve fires spontaneously

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

tone in LMN lesion

A

absence of innervation so flaccid tone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

fasciculations in LMN lesion

A

LMN will erratically discharge its neurotransmitter

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

symptoms caused when cortex affected

A

any of others

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

symptoms caused by midbrain/pon involvement

A

dysphagia, dysarthria, dysphonia, pseudobulbar affect, hypersalivation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

symptoms caused by medulla involvement

A

arm, trunk and leg symptoms

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

symptoms caused by cervical spinal cord involvement

A

poor dexterity/handwriting, weak grip, weak arms

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

symptoms caused by thoracic spinal cord involvement

A

symptoms of type 2 respiratory failure, early morning headaches, breathlessness on exertion, lethargy, drowsy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

symptoms caused by lumbar spinal cord involvement

A

foot drop/tripping, stiffness, leg weakness, poor balance, falls

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

ALS is characterised by progressive loss of which regions?

A

frontotemporal, bulbar and ventral cord motor neurons

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

pathophysiology of ALS

A

glutamate toxicity - cause increased calcium entry = cell dysfunction, oxidative stress and cell death
protein misfolding - accumulation and aggregation of intracellular and membrane protein = formation of toxic oligomers, also interfere with apoptotic mechanisms
oxidative stress -superoxide radicals
microglial activation - with mutant SOD1 have altered protective mechanisms
mitochondrial dysfunction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

cause of ALS

A

unknown

combination of genetic and environment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

environmental factors related to ALS

A

military service, smoking, alcohol, lead exposure, previous trauma, sports

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

genetic factor related to ALSO

A

mutations in SOD1 gene

also 9ORF72, FUS, TARDBP

24
Q

ALS - UMN or LMN

A

mixture of both

25
Q

ALS symptoms

A

UMN and LMN features
normal sensation
frontal lobe - frontal dementia, emotional changes
Bulbar - dyspnoea, swallowing, slurred speech, sialorrhea and drooling
Weakness - extensors in upper limbs, flexors in lower limbs

26
Q

diagnosis of definite ALS

A

UPPER AND LOWER MOTOR NEURON SIGNS IN BULBAR AND AT LEAST TWO SPINAL (LUMBOSACRAL, THORACIC, OR CERVICAL) REGIONS OR UPPER AND LOWER MOTOR NEURON SIGNS IN THREE SPINAL REGIONS

27
Q

diagnosis of probable ALS

A

CLINICALLY PROBABLE – UPPER AND LOWER MOTOR NEURON SIGNS IN AT LEAST 2 REGIONS (BULBAR OR SPINAL) WITH SOME UMN SIGNS ROSTRAL TO THE LMN SIGNS
LAB SUPPORTED – CLINICAL EVIDENCE OF UMN AND LMN SIGNS IN ONE BODY REGION OR OF UMN SIGNS IN ONE REGION AND EMG FINDINGS OF LMN INVOLVEMENT IN AT LEAST 2 BODY REGIONS
UMN AND LMN SIGNS IN ONLY THE BULBAR OR ONLY ONE SPINAL REGION OR UMN SIGNS IN 2 OR MORE REGIONS OR LMN SIGNS ROSTRAL TO UMN SIGNS

28
Q

investigations for ALS

A

EMG, nerve conduction studies, MRI, thyroid and calcium studies
Screen for paraproteinemia, lymphoreticular disease and hexosaminidase deficiency

29
Q

riluzole is a type of which medication

A

anti-glutamic

30
Q

management for ALS

A 
physiotherapy, occupational therapy
speech therapy
nutritional needs
respiratory needs
Medication - riluzole (also anti-spasmic agents)
31
Q

PLS is characterised by

A

progressive muscle weakness in voluntary muscles

32
Q

PLS - UMN or LMN

A

UPPER MOTOR ALONE

33
Q

PLS causes

A

unknown
combo genetic and environmental
Juvenile caused by ALS2

34
Q

Clinical features of PLS

A

UMN features
gradual onset progressive lower extremity stiffness and pain
affects extremities, trunk, upper extremities and bulbar muscles
often asymmetrical

35
Q

PMA - UMN or LMN

A

LMN only

36
Q

PMA clinical features

A

LMN features

37
Q

HSP characterised by

A

length dependent axonal degeneration

38
Q

HSP involves which regions

A

crossed and uncrossed corticospinal tracts to the legs and fasciculus gracillis
spinocerebellar tract is involved to a lesser extent (pyramidal tract)

39
Q

pathophysiology of HSP

A 
mutations affecting:
axonal pathfinding - L1CAM
lipid metabolism - ATL1, BCL2, ERLIN2
myelin formation - PLP1, GFC2, FA2H
endosomal trafficking - AP4b!
mitochondrial function
40
Q

causes in HSP

A

autosomal dominant inherited disorders

SPG gene

41
Q

clinical features of HSP

A

progressive spasticity in the lower limbs
brisk reflexes
extensor plantar reflexes
lower limb muscle weakness, muscle tone lower limbs increased
bladder disturbances
abnormal gait
decreased vibrators sense at the ankles
paraethesia
upper extremity muscle tone and strength normal

42
Q

Progressive Bulbar Palsy is

A

corticobulbar degeneration and lower cranial nerve motor nuclei involvement

43
Q

regions affected in PBP

A

degeneration of motor neurons in the cerebral cortex, spinal cord, brain stem and pyramidal tracts
degeneration of corticobulbar pathways to V, VII, X, XI, XII cranial nerve motor nuclei

44
Q

causes of PBP

A

SOD1 Mutation

45
Q

Clinical features of PBP

A

WEAKNESS OF MUSCLES OF MASTICATION AND EXPRESSION (TROUBLE CHEWING AND FACE IS EXPRESSIONLESS)
EXAGGERATED JAW JERK
DIFFICULTY SWALLOWING
ATROPHY AND FASCILATIONS IN SUPPLIED MUSCLES
TONGUE APPEARS WASTED AND FOLDED
DROOLING

46
Q

Spinal Muscular Atrophy is caused by

A

mutations in survival motor neuron 1 (SMN1) leading to defective splicing and therefore defective proteins causing LMN degeneration

47
Q

SMN1 gene codes for what

A

survival motor neurone protein 1m an enzyme hat regulates global gene expression in cells. Its main function is in gene splicing.

48
Q

clinical features of SMA

A 
muscle weakness
lack of motor development
reduced muscle tone
tongue fasciculations
postural finger tremor
loss of tendon reflexes
49
Q

diagnosis of SMA

A

SMN1 gene testing

50
Q

Friedreichs ataxia is…

A

autosomal recessive genetic disease that leads to neurological, cardiac and endrocrine manifestations

51
Q

pathophysiology of Friedreichs ataxia

A

expansion of a guanine-adenine-adenine (GAA) trinucleotide repeat that leads to mitochondrial dysfunction

52
Q

cause of Friedreichs

A

FRDA1 mutations

53
Q

clinical features of Friedreichs ataxia

A

onset before the age of 25
progressive ataxia of limbs and gait
loss of knee and ankle reflexes
extensor plantar response

54
Q

what is spinocerebellar ataxias

A

diverse group of autosomal dominant clinical syndromes whose core feature is progressive cerebellar ataxia

55
Q

pathophysiology of spinocerebellar ataxia

A

similar to Friedreichs ataxia - caused by triplet expansion mutation of CAG in specific genes

Neurology (18 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions