Motor Neurone Disease Flashcards
What is the median survival upon onset of symptoms?
3 years
At what age is motor neurone disease likely to present?
50-75 years
What is the epidemiology of MND?
90% sporadic
10% Familial link
What are the four types of MND
Amyotrophic Lateral Sclerosis
Primary Lateral Sclerosis
Progressive Muscular Atrophy
Progressive Bulbar Palsy
What is the most common subtype of MND?
ALS - Amyotrophic lateral sclerosis
How does ALS present?
With both Lower and Upper motor neurones features
Poor prognosis
How does PLS present?
Upper motor neurone features
Good survival >5yrs
How does Progressive Muscular Atrophy present?
LMN features
30% have UMN features
UMN - Clinical signs
Increased tone Hyper reflexa Extensor Plantar Response Spastic gait Exaggerated Jaw jerk Slowed movement
LMN - Clinical signs
Muscle wasting
Weakness
Fasciculations(spontaneous muscle twitch)
Absent or reduced tendon reflexs
What form of MND affects the lower cranial nerves?
progressive bulbar palsy
Who is affected by progressive bulbar palsy?
F>M
60 - 80 years
What muscles are affected by Progressive bulbar palsy?
Facial Tongue Pharyngeal
What are the main issues surrounding Progressive bulbar Palsy?
Dysphagia - risk of choking
Dysarthia - Can’t communicate
Why is it called progressive bulbar palsy?
As the disease always progresses to become ALS.
What are the treatments for Progressive Bulbar Palsy?
Therapeutic - communication devise, nutritional support, care for the URT.
What common syndrome presents in ALS?
Split Hand syndrome - selective wasting of muscles within the hand
What muscles show wasting in Split Hand syndrome?
First dorsal Interosseus
Abductor Pollicis
What muscles are preserved in Split Hand syndrome?
Abductor Digit minimi
What form of dementia is linked to ALS?
Frontotemporal
What are the diagnostic criteria for ALS?
Signs of UMN LMN degeneration
Electrophysiological and Neuropathological investigation
Signs in 2/3 vertebral segments on MRI
What is the primary treatment for ALS?
Rilozole 50mg x2
Why is nutrition and hydration support in ALS so impotent?
Metabolic rate is doubled and weight loss indicates a very poor prognosis.
What is a clinical priority in regards to ALS?
Insertion of a Gastrostomy
What is sialorrhoea?
Excessive drooling
What is the treatment for sialorrhoea?
Hyoscine Hydrobromide
Glycopyrronium
Botulin injection
In ALS what is used to treat Muscle Cramps?
Baclofen
Quinine
In ALS what is used to treat Muscle Spasms?
Baclofen
Gabapentin
Tizanidine
Why is respiratory dysfunction one of the main causes of death in ALS?
Respiratory muscles fail.
What is used to treat SOB in advanced ALS?
Lorazepam
What is key to the treatment of respiratory dysfunction in ALS?
Non invasive CPAP during the night
Tracheostomy in advanced disease
Emotionally how can people with MND present?
Apathetic
Disinhibition
Poor planning
Inappropriate laughing or crying
Does MND result in cognitive impairment?
50% present with some dysfunction
Hypokinetic
Too little moment
What are some hypokinetic diseases?
Parkinsons
Akinetic rigid syndromes
Hyperkinetic
Too much movement
What are some hyperkinetic diseases?
Tremor Tics Chorea Myoclonus Dystonia Athetosis
What 4 things are linked to parkinsonism?
T - Tremor
R - Rigidity
A - Akinesia / Bradykinesia
P - Postural instability
What is rigidity?
Resistance to movement is felt throughout the full range of movement.
No increase with higher mobilising speed.
What is cogwheel rigidity?
Rigidity + Resting tremor
Cogwheel rigidity is a sign off….
Parkinsonism
Froments test is what?
To feel increased rigidity on one sign move the contralateral side whilst examining the same side.
What is Akinesia?
Slow movement
What movements are particularly affected by akinesia?
Repetitive or alternating movements
When assessing akinesia what should be looked for?
Speed
Amplitude
Rhythm
In Akinesia what does it appear like on examination?
Slow
Small
Decreasing rate
When walking someone with postural or gait impairment will show.
Slow short shuffling steps
Freezing and start hesitation when turning or starting
Decreased arm swing
On standing how might someone with postural impairment will show this.
Stooped - some might show extreme anterior truncal flexion.
Impaired postural reflex - instability exhibited in pull test
What is festination?
Small fast steps but very little movement
Festination is characteristic of what?
Parkinsons
What type of tremor occurs in Parkinsonism?
Rest
What types of tremor are there?
Rest
Postural - arms outstretched
Kineti - occurs during movement
What is dystonia?
Sustained or intermittent muscle contractions causing an abnormal repetitive movement
Describe the movement in dystonia?
Patterned, twisting or tremulous
Initiated or worsened by voluntary movement
What is chorea?
Brief irregular purposeless movements that flow from one side of the body to another.
Chorea = Dance
List some causes of chorea.
Drugs - oral contraceptive
Basal ganglion lesion
Huntingtons
What is ballism?
Variant of chorea
Proximal joints large amplitude flinging movements
Describe the location of ballism movement in relation to the lesion.
It is usually hemiplegic and occurring on the contralateral side to the lesion.
What is myoclonus?
Brief electrical shock like jerks resulting in an activation of a group of muscles.
What are normal variants of myoclonic contractions?
Hiccups or jerks whilst falling asleep.
What are tics?
Semi voluntary or involuntary repetitive or stereotyped movements or vocalisations.
What are Primary tics?
Develop in childhood
What are secondary tics?
Onset in adulthood - v.rare
Due to secondary cause
Can tics be suppressed?
Yes, usually uncomfortable to do so and is usually followed upon release by a flurry.
What is tourrettes?
Persistent motor and vocal tics + associated psychiatric disturbances ADHD OCD etc
What is an essential tremor?
Benign postural tremor
Describe the epidemiology of an essential tremor?
Inherited autosomal dominant with a high penetrance
Varying age of onset.
Why does an essential tremor not get worse with proximity to its target?
As the issue doesn’t lie within the cerebellum.
Onset of an essential tremor is usually symmetrical. T/F
False it is usually asymmetrical
What can cause a essential tremor to be acutely suppressed?
Alcohol
