Motor Neurone Disease Flashcards
what is ALS
amyotrophic lateral sclerosis
is the most common MND phenotype in adults
how does MND present and progess
muscle weakness and wasting secondary to motor neuron degeneration
speech, swallowing and breathing problems
upper AND lower MN signs WITHOUT sensory problems
focal onset and continuous spread, finally generalised paresis
cognitive impairment
rapid progression
how much of MND is familial
10%
other 90% is sporadic
in scotland what is the median MND survival after symptom onset
3 years
how many cases of MND in scotland each year
200
incidence 1-3/100000 per year
what is the average age of diagnosis of MND
65
who gets MND
slightly more common in males
sporadic peaks at ages 50-75
declines after the age of 50
less common in non caucasian populations
what regions of onset can be affected by different types of MND
spinal limb (most common)
bulbar
cognitive
respiratory
motor neurone disease is an umbrella term- what does it encompass
amyotrophic lateral sclerosis primary lateral sclerosis progressive muscular atrophy progressive bulbar palsy congitive impairment
are there upper or lower MN features in ALS and what is the prognosis
both upper and lower poor prognosis (3-5 years)
are there upper or lower MN features in PLS and what is the prognosis
upper
good (>5 years)
are there upper or lower MN features in progressive muscular atrophy (flail arm and leg variants) and what is the prognosis
lower MN signs
subclinical upper, clinical upper MN signs in 30%
variable prognosis
are there upper or lower MN features in ALS- frontotemporal dementia and what is the prognosis
upper and lower
poor
what are the clinical phenotypes of MND
ALS
progressive muscular atrophy
primary lateral sclerosis
progressive bulbar palsy
what are upper motor neurone signs seen in ALS
increased tone hyper-reflexia extensor plantar responses (babinksi) spastic gait exaggerated jaw jerk slowed movements
what are lower motor neurone signs seen in ALS
muscle wasting weakness fasciculations absent or reduced deep tendon reflexes muscle cramps
what is pseudobulbar affect
episodes of sudden, uncontrollable and inappropriate laughing or crying
get is in ALS
what are the most common presentations of MND
extremities 70% (upper>lower)
bulbar 25%
thoracic 2%
UMN 10%
LMN 90%
frontal/ cognitive (5-90%)
MND katabolism 40-50%
what is MND katabolism
metabolism increased in MND
patients often very underwieght
what are the features of bulbar MND
affected women more than men
60-80 y/o
always generalises in to ALS
affects tongues, facial and pharyngeal muscles
what are the theraputic interventions for bulbar MND
early communicator, nutritional support, care for upper respiratory tract
what are the features of spinal dysfunction in MND
muscle wasting
loss of tone/ contractures
affectes upper and lower limbs
creates difficulty in everyday activities. mobility aids/ hoists often necessary
what is split hand syndrome
preferential wasting of thenar group (first dorsal interosseous and adbuctor pollicis brevis)
pattern of atrophy seen in ALS
which ALS variants have the better prognosises
flail arm or leg syndromes (progressive muscular atrophy)
primary lateral sclerosis
what is the pathophysiology of MND
motor neurone degeneration/ death
genetic link - familial and sporadic
not well understood
what investigations into MND
electrophysiology
what is the diagnostic score for ALS
El Escorial
what is MND commonly misdiagnosed as
carpal tunnel, stroke, neuropathy, mutlifocal motor neuropathy, kennedys disease, myopathy, cervical spondylotic radiculopathy
what are the treatment options for MND
symptomatic
riluzole
interventions:
-communications (speech therapy, voice banking)
-nutritional (dieticians, grastrotomy)
-respiratory needs (assessment, home ventilation)
what interventions might be needed for bulbar dysfunction
speech (dysarthria)- communication aids
swallowing (dysphagia)- hydration, nutrition, saliva, gastrostomy
why is extra nutrition needed in MND
metabolic rate is doubled
need small high energy supplements regularly/ early insertion of gastrostomy/ food thickeners/ liquid drug preparations
what treatments can be given for sialorrhoea
hyoscine/ buscopan
glycopyrronium
botox
suction/ humidification/ carbocisteine
what treatment for muscle cramps
baclofen
quinine
what treatment for muscle spasms
baclofen (dont give too much as high tone may be what is allowing movements and independence)
tizanidine
dantrolene
gabapentin
what are the red flags of respiratory failure
breathlessness orthopnoea recurrent chest infection disturbed sleep non refreshed sleep night mares daytime sleepiness poor concentration
what can be used for resp dysfunction
BiPAP mask - commenced at night
what treatment for SOB/ anxiety
lorazepam - palliative
what treatment for coughing
breath stacking
cough assist
what cognitive impairment is seen in MND
in half of patients spectrum of severity Associated with Frontotemporal Dementia Apathy, disinhibition, poor planning/decision making emotional liability
