Motor Neurone Disease Flashcards
The most common subtype of MND is ALS - this comprises what features?
Muscle wasting, LMN degeneration and corticospinal tract degeneration
There is a spectrum of different clinical phenotypes of MND. What diseases are at either end?
Frontotemporal dementia up to ALS (can present anywhere in between these two)
Which gender is slightly more affected by MND? Is it more likely to be sporadic or familial?
Males/ 10% familial, 90% sporadic
Sporadic MND peaks at what age? What ethnicity is it more common in?
50-75 / Caucasian
What are the 3 main risk factors for MND?
Aged > 50, male gender, positive Fx
Describe the onset and spread of symptoms of MND?
Usually focal onset (90% in a single limb) with continuous spread over months-years ending in generalised paralysis
Name some UMN signs that may be seen in MND?
Hyper-reflexia, increased tone, spastic gait, slowed movements
Name some LMN signs that may be seen in MND?
Muscle wasting, weakness, fasciculations, reduced/absent reflexes
What is split hand syndrome?
Wasting of the thenar group, with relative sparing of the hypothenar group
What are the 3 areas of onset of MND from most to least common?
Extremities (70%), bulbar (25%), thoracic (2%)
Bulbar lesions affect which cranial nerves?
IX, X, XI, XII
People with thoracic onset MND tend to present to where first and why?
They present to respiratory or cardiology with difficulty breathing
Is MND more likely to present with UMN or LMN features?
LMN
As well as upper and lower motor neurone features, what else can MND present with?
Frontal/cognitive deficits
What is the most common MND phenotype? This can be classified depending on where problems first occur - what are the main types?
Amyotrophic lateral sclerosis (ALS) / limb onset or bulbar onset
Typically, ALS presents how?
Progressive weakness and wasting of the limbs
What underpins the link between ALS and FTD?
C9ORF hexanucleotide repeat expansions
Who is progressive bulbar palsy most likely to present in?
Women > men, usually 60-80 years old
How does progressive bulbar palsy present?
Problems with speech and swallowing
How does progressive bulbar palsy progress?
It will progress into generalised disease eventually, but patients often die before this from complications e.g. aspiration pneumonia
What are some therapeutic interventions for progressive bulbar palsy?
Early communicator, nutritional support and upper respiratory care
What happens in progressive muscular atrophy?
Causes isolated LMN degeneration, mainly in distal muscles
What happens in primary lateral sclerosis?
Causes corticospinal tract degeneration, causing only UMN signs
What are some investigations that can be used for MND?
All patients get neurophysiological studies and an HIV test, some get MRI brain and spinal cord
What is riluzole?
The only approved medication to alter disease progression in MND
What effect doe riluzole have?
Increases survival by a few months
What is the general prognosis of MND?
Relentlessly progressive condition, with most patients dying within 3-5 years of symptom onset
Which type of MND has the best prognosis?
Progressive muscular atrophy
Which type of MND has the worst prognosis?
Progressive bulbar palsy
