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Motor Neuron Disease Flashcards

1
Q

Upper motor neuron signs

A 
increased tone
hyperreflexia
extensor plantar response
spastic gait
exaggerated jaw jerk
slowed movements
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2
Q

lower motor neuron signs

A

muscle wasting
weakness
fasciculations
absent or reduced deep tendon reflexes

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3
Q

upper motor neuron

A

brain and spinal cord

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4
Q

lower motor neuron

A

exiting spinal nerve

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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
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6
Q

reflexes in UMN

A

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

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7
Q

reflexes in LMN lesion

A

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

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8
Q

muscle bulk in LMN lesion

A

wasting as no innervation

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9
Q

muscle bulk in UMN lesion

A

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

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10
Q

tone in UMN lesion

A

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

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11
Q

tone in LMN lesion

A

absence of innervation so flaccid tone

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12
Q

fasciculations in LMN lesion

A

LMN will erratically discharge its neurotransmitter

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13
Q

symptoms caused when cortex affected

A

any of others

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14
Q

symptoms caused by midbrain/pon involvement

A

dysphagia, dysarthria, dysphonia, pseudobulbar affect, hypersalivation

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15
Q

symptoms caused by medulla involvement

A

arm, trunk and leg symptoms

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16
Q

symptoms caused by cervical spinal cord involvement

A

poor dexterity/handwriting, weak grip, weak arms

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17
Q

symptoms caused by thoracic spinal cord involvement

A

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

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18
Q

symptoms caused by lumbar spinal cord involvement

A

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

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19
Q

ALS is characterised by progressive loss of which regions?

A

frontotemporal, bulbar and ventral cord motor neurons

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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

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21
Q

cause of ALS

A

unknown

combination of genetic and environment

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22
Q

environmental factors related to ALS

A

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

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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
ALS symptoms
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
diagnosis of definite ALS
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
diagnosis of probable ALS
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
investigations for ALS
EMG, nerve conduction studies, MRI, thyroid and calcium studies Screen for paraproteinemia, lymphoreticular disease and hexosaminidase deficiency
29
riluzole is a type of which medication
anti-glutamic
30
management for ALS
``` physiotherapy, occupational therapy speech therapy nutritional needs respiratory needs Medication - riluzole (also anti-spasmic agents) ```
31
PLS is characterised by
progressive muscle weakness in voluntary muscles
32
PLS - UMN or LMN
UPPER MOTOR ALONE
33
PLS causes
unknown combo genetic and environmental Juvenile caused by ALS2
34
Clinical features of PLS
UMN features gradual onset progressive lower extremity stiffness and pain affects extremities, trunk, upper extremities and bulbar muscles often asymmetrical
35
PMA - UMN or LMN
LMN only
36
PMA clinical features
LMN features
37
HSP characterised by
length dependent axonal degeneration
38
HSP involves which regions
crossed and uncrossed corticospinal tracts to the legs and fasciculus gracillis spinocerebellar tract is involved to a lesser extent (pyramidal tract)
39
pathophysiology of HSP
``` mutations affecting: axonal pathfinding - L1CAM lipid metabolism - ATL1, BCL2, ERLIN2 myelin formation - PLP1, GFC2, FA2H endosomal trafficking - AP4b! mitochondrial function ```
40
causes in HSP
autosomal dominant inherited disorders | SPG gene
41
clinical features of HSP
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
Progressive Bulbar Palsy is
corticobulbar degeneration and lower cranial nerve motor nuclei involvement
43
regions affected in PBP
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
causes of PBP
SOD1 Mutation
45
Clinical features of PBP
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
Spinal Muscular Atrophy is caused by
mutations in survival motor neuron 1 (SMN1) leading to defective splicing and therefore defective proteins causing LMN degeneration
47
SMN1 gene codes for what
survival motor neurone protein 1m an enzyme hat regulates global gene expression in cells. Its main function is in gene splicing.
48
clinical features of SMA
``` muscle weakness lack of motor development reduced muscle tone tongue fasciculations postural finger tremor loss of tendon reflexes ```
49
diagnosis of SMA
SMN1 gene testing
50
Friedreichs ataxia is...
autosomal recessive genetic disease that leads to neurological, cardiac and endrocrine manifestations
51
pathophysiology of Friedreichs ataxia
expansion of a guanine-adenine-adenine (GAA) trinucleotide repeat that leads to mitochondrial dysfunction
52
cause of Friedreichs
FRDA1 mutations
53
clinical features of Friedreichs ataxia
onset before the age of 25 progressive ataxia of limbs and gait loss of knee and ankle reflexes extensor plantar response
54
what is spinocerebellar ataxias
diverse group of autosomal dominant clinical syndromes whose core feature is progressive cerebellar ataxia
55
pathophysiology of spinocerebellar ataxia
similar to Friedreichs ataxia - caused by triplet expansion mutation of CAG in specific genes

Neurology (18 decks)

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