Motor Neurone Disease

Question 1

What is motor neurone disease?

• overall features (4)
• progression?
• average survival time?
• most common type?

Answer 1

• untreatable, rapidly progressive neurodegenerative condition
• Muscle weakness and potentially problems with speech, swallow & breathing
• focal onset and continuous spread, finally generalised paresis
• is 3 years
• ALS- Amytrophic lateral sclerosis

Question 2

What are the upper motor neurone signs? (8)

Answer 2

increased tone
hyper-reflexia
extensor plantar response
spastic gait
exaggerated jaw jerk
Slowed movement 
\+ babinskis

Question 3

What are the Lower motor neurone signs? (4)

Answer 3

muscle wasting
weakness
fasciculation
absent/reduced deep tendon reflexes

Question 4

What are the 4 clinical syndromes with which motor neurone disease might present?

• what are the features of each?
• what might occur alongside MND?

Answer 4

Bulbar palsy (LMN)
weakness, wasting and fasciculation of the lower facial muscles and those moving the palate, pharynx, larynx and tongue

Pseudo bulbar palsy (UMN)
weakness, slowness and spasticity of the lower facial muscles, jaw, palate, pharynx, larynx and tongue
exaggerated jaw jerk & emotional lability

Progressive muscular atrophy (LMN)
weekness, wasting and fasciculation of any of the limb or trunk muscles often associated with frequent muscle cramps involves small muscles of the hand

amyotrophic lateral sclerosis (UMN)
Weakness, sptsctivity, clonus and increased deep tendon reflexes, more common in legs

-Fronto-temporal dementia (FTD-MND)

Question 5

Management (6)

Answer 5

-give access to specialist MND services
Get a definite diagnosis 
asses needs and coordinate care
communication needs
nutritional needs
Resp needs

Question 6

Genetics

-what is seen as a pathological signature?

Answer 6

-TDP43 inclusions (familial)

also intronic hexanucleotide repeat expansion C9ORF72 (sporadic & with FTD)