Motor Neurone Disease

Question 1

What is motor neurone disease

Answer 1

an untreatable and rapidly progressive neurodegenerative condition resulting in progressive muscle weakness and wasting

Question 2

What is the average MND survival time

Answer 2

3 years

Question 3

How many cases of MND are familial

Answer 3

10 percent

Question 4

What type of signs are seen in MDN

Answer 4

Both upper and lower motor neurone signs without sensory problems

Question 5

What is the most common site of onset for MND

Answer 5

70 percent begin in the extremities

25 percent bulbar, 2 percent thoracic

Question 6

Does the disease usually begin in the upper or lower motor neurones

Answer 6

usually lower -90 percent

Question 7

Other than motor problems, what other problems may occur in someone with MND

Answer 7

frontal/cognitive deficits

Question 8

What are the four main clinical patterns of MND? - please note these usually merge as the disease progresses

Answer 8

ALS - amyotrophic lateral sclerosis
Progressive muscular atrophy
Progressive bulbar and pseudobulbar palsy
Primary lateral sclerosis

Question 9

What is the features of the bulbar varient

Answer 9

Affects 25 percent of patients
More common in woman and in those ages 60-80
always generalises into ALS

Question 10

What is the pathological mechanisms of the bulbar varient

Answer 10

Lower cranial nerve nuclei and their supranuclear connection are initially involved.

Question 11

How would the bulbar variant usually present

Answer 11

dysarthria
dysphagia
nasal regurge

Question 12

What is ALS

Answer 12

‘classic’ MND
presents with upper and lower motor neuron signs in one limb which then gradually progresses to other limbs and the trunk

Question 13

What is an unusual but important form of MND that can be easily missed?

Answer 13

thoracic

may present with dypsnoe at rest, pneumonia etc

Question 14

What is progressive muscular atrophy?

Answer 14

A rare variant of MND only affecting the lower motor neurons
Can sometimes only by contained to one limb eg flail arm/leg syndrome

Question 15

What is clinically important about PMA

Answer 15

better prognosis

Question 16

What is primary lateral sclerosis

Answer 16

another rare form of mnd which only affects the upper motor neurones

Question 17

what is Kennedy’s disease

Answer 17

an variant of SMA (spinobulbar muscular atrophy)
resulting in muscle cramps and progressive weakness due to degeneration of motor neurons in the brain stem and spinal cord

Question 18

What signs would be classified as UMN signs

Answer 18

Spasticity
Babinski sign
BULBAR signs- exaggerated snout reflec, clinic jaw jerk, emotional lability, forced yawning
Cervica and lumbar region - clonic deep tendon reflexes, preserves reflec in a weak waster limb, Hoffman reflex, hyperrefelxia
Abdo- loss of superficial adbo reflexes

Question 19

what Is a babinski’s signs

Answer 19

A positive babinskis test is dorsiflexion of the big toe when the sole of the foot is stimulated with a blunt instument

Question 20

What is hoffmans reflex

Answer 20

The test involves tapping the nail or flicking the terminal phalanx of the middle or ring finger. A positive response is seen with flexion of the terminal phalanx of the thumb.

Question 21

What are lower motor neurone signs

Answer 21

weakness
fasiculations
cramps
hypotonicity
atrophy
hyporeflexia

Question 22

What has now been ideniified as the patholgogical signature of MND

Answer 22

presence of TDP43 in 95 percent of cases