Motor Neurone Disease Flashcards
what is MND?
untreatable and rapidly progressive neurodegenerative condition
muscle weakness and potentially problems with speech swallow and breathing
upper and lower motor neurone symptoms but no sensory symptoms
focal onset and continuous spread finally causing generalised paresis
ALS = most common subtype
median MND survival?
3 years after symptoms onset
how is MND incidence changing?
increasing
age of diagnosis?
usually in 60s
risk tails off after 80
risk of MND?
1 in 450 lifetime risk
10% are familial
slightly more common in males
more common in Caucasians
upper vs lower motor neurones MND?
upper = PLS (rare) lower = PMA ALS = mixed of both (brisk reflexes but muscle wasting present)
MND encompasses what?
ALS
PMA
PLS
progressive bulbar palsy
prognosis of each type of MND?
ALS = bad (3-5 years)
PLS = good (>5 years)
PMA = variable
ALS with frontotemporal dementia = poor
upper motor neurone signs?
increased tone brisk reflexes extensor plantar response spastic gait exaggerated jaw jerk slowed movements
LMN signs?
muscle wasting
weakness
fasciculations
absent or reduced deep tendon reflexes
how is MND diagnosed?
clinical signs
- in ALS looking for mixed upper and lower motor neurone signs
however there is no pattern, very variable signs/onset/development
- most people present with limb symptoms but some initially present with bulbar dysfunction or resp difficulties in rarer cases
- 90% have LMN signs
- 10% have UMN signs
- 5% have cognitive dysfunction
describe bulbar onset MND?
in 25% of patients
more common in women
onset in the mouth - speech difficulty, tongue and facial muscle wasting, pharyngeal wasting
always generalizes into ALS
must have early interventions in communication, nutrition and respiratory support
what does the tongue look like in bulbar onset MND?
like bag of worms
spinal dysfunction features in MND?
muscle wasting
loss of tone or contractures
what is aplit hand syndrome?
wasting of only the muscles in the thenar eminence, rest of the hand is fine
rare but can indicate MND
what other syndromes may present like MND?
flail arm syndrome flail leg syndrome PLS focal distal muscular dystrophy kennedys disease
pathophysiology?
motor neurone degeneration/death
possibly some genetic element but unsure how this causes neurone death
how is MND confirmed?
electrophysiology
diagnostic criteria for ALS?
/// - only really used in research
how is MND diagnosed?
diagnosis of exclusion
neuroimaging and neurophysiology to exclude other causes
treatment options in MND?
no real treatment
riluzole sometimes
- only prolongs life by 3 months in last stages of illness but causes liver problems, rashes etc so not many people take it
mainly supportive - gastrostomy, voice banking, resp support, nutritional support
how often are MND patients seen?
every 4-6 weeks
what is AAC?
augmentative and alternative communication low tech (paper and pen) or high tech (ipads, eye tracking etc)
what does weight loss indicate in MND?
near end of life
nutrition in MND?
high energy supplements
usually can eat but get most nutrition from gastrostomy
symptomatic treatment?
sialorrhoea (…)
nutrition (….)
muscle cramps (quinine, baclofen)
muscle spasms (baclofen, tizanidine, dantrolene, gabapentin)
how is resp dysfunction managed in MND?
initially a mask (non-invasive ventilation) is used, but becomes insufficient in later stages when muscle weakness becomes too severe, need to discuss when to stop it
- tracheostomy is an option but most don’t want it
resp red flags in MND?
breathless
orthopnoea
…..
how can SOB/anxiety be managed medically|?
lorazepam
- worsens prognosis but improves QoL
- basically palliative care
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