DISEASE- Motor neurones

Question 1

what is motor neurones?

Answer 1

Umbrella term for:
-A progressive, ultimately fatal condition where the motor neurones stop functioning causing progressive weakness and eventually death (usually as a result of respiratory failure or aspiration)

Question 2

female or males- more affected by MND?

Answer 2

more common in males

Question 3

is MND sporadic or genetic?

Answer 3

90% sporadic
10% genetic
-c9orf72
-SOD1
-TDP43

Question 4

peak age of developing MND?

Answer 4

peaks at 50-75 years but declines after age of 80

Question 5

subtypes of MND?

Answer 5

-Spinal (ALS) Amyotrophic lateral sclerosis
-Progressive Bulbar Palsy
-Progressive muscular atrophy
-Primary Lateral Sclerosis

Question 6

what is the most common subtype of MND?

Answer 6

-Spinal ALS (50%)

Steven Hawkings had it

Question 7

What neurones are involved in MND?

Answer 7

there is degeneration of upper + lower motor neurones

Sensory neurones are spared

Question 8

examples of upper motor neurone signs?

Answer 8

increased spasticity/tone
Hyper reflexia
Exaggerated jaw jerk/ upgoing plantar (extensor plantar response)

Question 9

what is Babinkis sign?

Answer 9

upgoing plantar/ extensor plantar response

-extension of big toes and abduction of other toes (in person without UMN lesion all the toes would flex/curl)

Question 10

Presentation/prognosis of spinal ALS?

Answer 10

UMN signs (usually in legs) and LMN signs (usually in arms)
Split hand syndrome (half the hand is affected an half isn’t)
Poor prognosis (3-5 years)

Question 11

second most common form of MND?

Answer 11

progressive bulbar palsy

Question 12

Presentation/prognosis of progressive bulbar palsy?

Answer 12

-Palsy of tongue, muscles of chewing/ swallowing and facial muscles (due to loss of function of brainstem nuclei)

-Dysarthria, dysphagia, nasal regurgitation of fluids and choking are the presenting symptoms

UMN and LMN signs confined to the mouth

Question 13

Presentation/prognosis of primary lateral sclerosis?

Answer 13

UMN signs only
Confined to upper motor neurones, causing a slowly progressive tetraparesis and pseudobulbar palsy
-Good prognosis (>5 years)

Question 14

Presentation/prognosis of progressive muscular atrophy?

Answer 14

LMN signs only
Pure lower motor neurone presentation with weakness, muscle wasting and fasciculations, usually starting in one limb and gradually spreading to involve other adjacent spinal segments
Usually affects distal muscles first before affecting proximal
Flail arm variant + flail leg variant
-Variable prognosis

Question 15

investigations MND?

Answer 15

clinical diagnosis

EMG- confirms denervation of muscles due to LMN

EL ESCORIAL CRITERIA

Question 16

symptoms shared by all MND subtypes?

Answer 16

issues with movement, speech + swallowing
-50% cognitive deficit (90% in late stage disease)
-MND ketabolism in 50% (massive weight loss)

Question 17

non pharmacological managment of MND

Answer 17

-SLT and OT
-Physio
-Ventilation
-Gastrostomy

Question 18

management of sialorrhea AKA drooling

Answer 18

-buscopan
-botox
-suction

Question 19

treatment for muscle cramps?

Answer 19

first line= quinine (antimalarial)

-Baclofen

Question 20

management for muscle spasm?

Answer 20

-Baclofen
-Tizanidine
-Dantrolene
-Gabapetin

Question 21

what medication can prolongue the life of someone with motor neurones?

Answer 21

Riluzole (by 3 months)

Question 22

Peak ages of MND?

Answer 22

50-75

Question 23

most common genetic mutation to do with ALS?

Answer 23

SOD1 mutation