Motor Neurone Disease Flashcards
what is motor neurone disease?
untreatable and rapidly progressive neurodenegerative condition
how is motor neurone disease diagnosed?
clinically
what are symptoms of MND?
muscle weakness and potentially problems with speech, swallow and breathing
what is the onset and progression of MND?
focal onset and continuous spread, finally generalised paresis
what is most common subtype of MND?
amyotrophic lateral sclerosis (ALS) - mixed upper and lower signs
also known as Lou Gehrigs disease
what is median survival of MND after symptom onset?
3 years
the incidence of MND is decreasing - true or false?
false - it is increasing
MND is slightly more common in what gender?
male
what is cause of MND?
90% sporadic
10% familial
sporadic MND peaks what which age?
50 and 75 - then declines after age of 80
ALS is less common in what population?
non-caucasian
what is PLS?
rare form of MND - problem with upper motor neurone
what is PMA?
another rare form of MND - problem with lower motor neurone
65% of patients present with spinal / limb onset. What else could patients present with?
bubar onset
cognitive onset
respiratory onset
90% of MND patients have abnormality in what protein?
tdp-43
what are 4 types of motor neurone disease?
PLS - primary lateral sclerosis
ALS - amyotrophic lateral sclerosis
PBS - progressive bulbar palsy
PMA - progressive muscular atrophy
what is median survival of ALS?
3-5 years
what is median survival of PLS (1-3% of cases)?
good (>5 years)
what is median survival of PMA (10% of cases)?
variable
what are upper motor neurone signs?
increased tone hyper reflexia extensor plantar responses spastic gait exaggerated jaw jerk slow movements
what are lower motor neurone signs?
muscle wasting
weakness
fasciculations
absent or reduced tendon reflexes
what signs may you see when you examine someone with MND?
extremities (70%) (upper > lower)
bulbar (25%)
thoracic (2%)
upper motor neurone (10%)
lower motor neurone (90%)
cognitive problems (5%)
MND katabolism (40-50%)
what is therapeutic interventions of bulbar variant MND?
early communicator
nutritional support
care for URT
what does bulbar dysfunction affect?
tongue muscles, facial muscles and pharyngeal muscles
what symptoms can occur in upper and lower limbs?
wasting (either global or split hand syndrome)
loss of tone or contractures
what gene is associated with frontotemporal dementia?
C9orf72
what are ALS variants with more benign prognosis?
note - these are not classified as MND
flail arm syndrome flail leg syndrome primary lateral sclerosis focal distal spinal muscular dystrophy kennedy disease (SMA variant)
what investigation can take place in MND to confirm diagnosis?
electrophysiology + clinical findings
what is the pathology of MND?
motor neurone degeneration / death
what is name of criteria used to diagnose ALS?
el escorial criteria
ALS is a diagnosis of exclusion - true or false?
true
what is riluzole?
drug which can be given in end stages of MND to prolong life for 3 months
what are other interventions in MND?
communication needs = speech therapy, technology from tablets
nutritional needs = dieticians, gastrostomy
respiratory needs (assessment, home ventilation)
what is the average time from symptom onset to diagnosis?
12 months
who is in a MND team?
1 consultant and 2 nurse specialist delivering care and advice at home and at clinic
how often are patients MND patients assessed?
4-6 weeks - not always in person, can do phone and email
what happens to metabolic rate in MND?
it is doubled - weight loss expected
what is symptomatic treatment for muscle cramps?
quinine
baclofen
what is symptomatic treatment for muscle spasms?
baclofen tizanidine dantrolene gabapentin medicinal cannabis
what is one of the main causes of death in MND?
weakness of respiratory muscles
what is offered to support type 2 respiratory failure?
non-invasive ventilation - BiPAP mask, commenced at night and gradually increased depending on need
what is symptomatic treatment for SOB / anxiety?
lorazepam
what are symptomatic treatment for coughing?
breath stacking
cough assist
what is the symptomatic treatment for sialorrhoea?
hycosine / buscopan
glycopyrronium (esp if cognitive impairment)
botox
suction / humidification / carbocisteine
what is symptomatic treatment for malnutrition?
supplements / thickeners
liquid drug preparations
what are the red flag signs of respiratory failure?
breathlessness orthopnea recurrent chest infection disturbed sleep non-refreshed sleep nightmares daytime sleepiness poor concentration
what % of MND patients may have cognitive impairment?
50 - spectrum from mild to dementia
what type of dementia is MND associated with?
frontotemporal
apathy, disinhibition, poor planning / decisions
