Motor Neuron Disease

Question 1

What is MND?

Answer 1

A cluster of degenerative diseases associated with selective loss of motor neurones in either the motor cortex, cranial nerve nuclei and anterior horns of the spinal cord

Question 2

What age do people present with MND?

Answer 2

50-75

Question 3

Is MND more common in males or females?

Answer 3

Males

Question 4

What are the genes C9orf72 and SOD1 identified as causative for?

Answer 4

MND

Question 5

What do 5% of people with MND go on to develop?

Answer 5

Frontotemoral dementia

Question 6

What is the primary symptom of MND?

Answer 6

Muscle weakness

Question 7

What muscles are commonly initially affected by weakness in MND?

Answer 7

Limbs (upper > lower)

Question 8

How is MND distinguished from myasthenia gravis?

Answer 8

MND doesn’t affect the eyes

Question 9

How is MND distinguished from MS and neuropathies?

Answer 9

No sensory loss or sphincter dysfunction

Question 10

What are the 4 types of MND?

Answer 10

Amyotrophic lateral sclerosis
Progressive bulbar or pseudo-bulbar palsy
Progressive spinal muscular atrophy
Primary lateral sclerosis

Question 11

What is the most common type of MND?

Answer 11

Amyotrophic lateral sclerosis

Question 12

How does amyotrophic lateral sclerosis present?

Answer 12

Often starts in hands, spreads to all limbs and bulbar/thorax muscles
Muscle weakness (particularly hands, feet, shoulder)
Fasciculations
Stumbling gait
Drooling, dysarthria
Increased tone, spasticity

Question 13

Does amyotrophic lateral sclerosis affect upper, lower or a mix of upper and lower motor neurones?

Answer 13

Mix

Question 14

How does progressive bulbar or pseudo-bulbar palsy present?

Answer 14

Bulbar muscle weakness and subsequent limb involvement
Drooling
Dysphagia
Dysarthria
Wasted fasciculation tongue
Emotional lability in pseudo-bulbar

Question 15

Does progressive bulbar palsy affect upper, lower or a mix of upper and lower motor neurones?

Answer 15

Mix

Question 16

How does progressive spinal muscular atrophy present?

Answer 16

Muscle weakness (particularly hands, feet, shoulder)
Fasciculations
Stumbling gait
Drooling, dysarthria
No increased tone or spasticity
Absent or weak reflexes

Question 17

Does progressive spinal muscular atrophy affect upper, lower or a mix of upper and lower motor neurones?

Answer 17

Lower only

Question 18

How does primary lateral sclerosis present?

Answer 18

Predominantly limbs
Marked spasticity
Slow progressive tetraparesis (loss of all 4 limbs) and pseudo-bulbar palsy
No cognitive decline

Question 19

What is progressive spinal muscular atrophy caused by?

Answer 19

Selective loss of anterior horn cells

Question 20

What is primary lateral sclerosis caused by?

Answer 20

Loss of Benz cells in the motor cortex

Question 21

How is MND diagnosed?

Answer 21

Clinical - El Escorial criteria

No scans or tests

Question 22

What is the prognosis of MND?

Answer 22

Disease is usually fatal within 3 years

Usually as a result of respiratory failure or aspiration

Question 23

What are the treatment options for MND?

Answer 23

Riluzole
Analgesia
Anticholinergic (for drooling)
Baclofen or other muscle relaxant (for spasticity)
Ventilator when breathing difficult
Speech therapy, OT, dietitian

Question 24

What is riluzole?

Answer 24

An Antiglutamate drug that prolongs life by about 3 months

Not always wanted

Question 25

What is Kennedy’s disease?

Answer 25

Not MND
X linked genetic disorder that may be misdiagnosed as MND
Lower motor neurone limb and bulbar weakness
ED
Infertility
Gynaecomastia
Atrophic testes