Motor neurone disease Flashcards
Definition of motor neurone disease
Neurodegenerative disorder of upper and lower motor neurones
Combined degeneration of upper and lower motor neurones producing a mix of UMN and LMN symptoms
Amyotrophic lateral sclerosis (ALS)
Only show LMN signs, with better prognosis
Progressive muscular atrophy variant
Dysarthria and dysphagia, with wasted fasciculating tongue
Progressive bulbar palsy variant
UMN pattern of disease (weakness, brisk reflexes) without LMN signs
Primary lateral sclerosis variant
Gene implicated in 20% familial cases
SOD1 (superoxide dismutase)
MND never affects (4)
Sensation
Sphincters
Eye movements
Cerebellum
What does bulbar palsy mean?
Signs affecting IX-XII cranial nerves- nasal speech, nasal regurgitation of food, decreased gag reflex, absent jaw jerk
UMN signs (4)
Brisk reflexes; spasticity; plantars up; weakness
LMN signs
Wasting, fasciculation, weakness
Which other neurological disease is seen in 10-35% of MND patients?
Frontotemporal dementia
“Definite” ALS according to diagnostic criteria
LMN + UMN signs in 3 regions
What can the following investigations be useful for?
a) MRI
b) LP
Exclude structural (MRI) and inflammatory/infectious (LP) causes
Drug which has a modest (3 month) impact on survival
Riluzole (antiglutamergic)
End of life management options (2)
Consider PEG tube and home non-invasive ventilation
