MND Disease Flashcards
MND patients present with what signs?
Muscle weakness and wasting secondary to motor neuron degeneration.
- UMN and/or LMS signs without sensory problems.
- Focal onset and continuous spread with final generalised paresis.
MND causes what symptoms?
- Muscle weakness (and wasting).
- Difficulties with speech, swallowing and breathing.
Are cases of MND more often familial or sporadic?
- 10% familial.
- 90% sporadic.
What is the most common motor neuron disease phenotype in adults?
Amyotrophic lateral sclerosis - ALS = “Lou Gehrig’s disease”.
How is MND diagnosed?
Mainly clinical based on symptoms and signs.
Prognosis for MND?
Untreatable and rapidly progressive neurodegenerative condition.
What is average survival time of MND?
3 years.
What is the lifetime risk of developing MND?
1:400.
Sporadic MND peaks at what ages?
50-75 years and declines after 80.
ALS is more common in which populations?
Caucasians.
Less common in non-caucasian populations.
What UMN signs may be seen in a patient with amyotrophic lateral sclerosis?
- Increased tone.
- Hyper-reflexia.
- Extensor plantar responses.
- Spastic gait.
- Exaggerated jaw-jerk.
- Slowed movements.
What LMN signs may be seen in a patient with amyotrophic lateral sclerosis?
- Muscle wasting and cramp.
- Weakness.
- Fasciculations.
- Absent or reduced deep tendon reflexes (hyporeflexia).
what is the Babinski sign?
On stroking the sole of the foot, the big toe then moves superiorly.
what is a Bulbar palsy?
Signs and symptoms reflecting impaired function of CN IX, X, XI and XII.
What are bulbar UMN signs e.g. seen in MND?
- Exaggerated snout reflex.
- Clonic jaw jerk.
- Emotional lability.
- Forced yawning.
What signs of UMN disease will be seen in the cervical and lumbar region?
- Clonic deep tendon reflexes.
- Preserved reflex in a weak, wasted limb.
- Hoffmann reflex.
- Hyperreflexia.
What is the Hoffman reflex?
Indicates UMN lesion affecting cervical and lumbar regions. Or can be entirely normal.
- Hold middle finger and flick fingernail downward: positive if there is flexion and adduction of the thumb on the same hand.
UMN signs which may be clinically detected?
- Spasticity.
- Babinski sign.
- Bulbar UMN signs.
- Cervical and lumbar region symptoms.
- Loss of superficial abdominal reflexes.
Give a typical pattern of atrophy in ALS?
- Preferential wasting of thenar group of hand.
(First dorsal interosseous, abductor pollicis brevis wasting and preservation of abductor digiti minimi).
Primary bulbar onset occurs in what percentage of MND patients?
-25%.
Is the bulbar variant of MND more common in men or women?
Woman.
In whihc age group is the bulbar variant of MND most common?
60-80 years.
What therapeutic interventions may be offered to those with bulbar variant MND?
- Early communicator.
- Nutritional support.
- Care for URT.
There is always a generalisation of Bulbar Variant MND into what?
ALS.
Other than ALS, what are the other phenotypes of MND?
- Progressive muscular atrophy (PML).
- Primary lateral sclerosis (PLS).
- Progressive bulbar palsy (PBP).
There is a link between ALS and what form of dementia (discovery of C9ORF72 hexanucleotide repeat expansions)?
Frontotemporal dementia.
Prognosis of ALS (MND)?
Poor, median survival 3-5 years.
Prognosis of primary lateral sclerosis (MND)?
Good, survival >5 years.
Prognosis of ALS-frontotemporal dementia (MND)?
Poor - test for C90RF72 gene.
Prognosis of progressive muscular atrophy (MND)?
Variable for both flail arm and flail leg variant ALS.
What are the diagnostic criteria for ALS?
- LMN degeneration signs.
- UMN degeneration signs.
- Progressive spread of signs within a region or to other regions with the absence of: evidence of other disease processes responsible for LMN and/or UMN degeneration and neuroimagining suggesting disease processes possibly explaining clinical and electrophysiological signs.
Clinically definite ALS criteria?
- UMN and LMN signs in bulbar and at least two spinal (lumbosacral, thoracic or cervical regions OR:
- UMN and LMN signs three spinal regions.
Clinically probable ALS criteria?
- UMN and LMN signs in at least two regions (bulbar or spinal).
+ UMN signs rostral to the LMN signs.
Clinically probably ALS = laboratory supported?
- Clinical evidence of UMN and LMN signs in one body region and EMG findings of LMN involvement in at least two body regions.
Clinically possible ALS?
- UMN and LMN signs in only bulbar or only one spinal region. OR - UMN signs in 2 or more regions. OR - LMN signs rostral to UMN signs.
How is MND diagnosed?
- Consensus clinical critera + UMN/LMN signs and an absence of sensory symptoms.
- Limb onset, bulbar onset and/or cognitive behavioural symptoms.
- Diagnosis of exclusion: neuroimaging and laboratory studies to rule out other diseases.
What is the most frequent surgical intervention in MND?
- Decompressive spinal surgery.
Management of MND?
- Access to specialist MND services.
- On-going management.
What is part of the on-going management of MND?
- Key worker assessment (needs & care co-ordination).
- Communication needs (speech therapy etc).
- Nutritional needs (dietitians, gastrostomy).
- Resp. needs (assessment, home ventilation).
- Riluzole.
What has been identified as the pathological signature in 95% of cases of MND?
TDP43 inclusions.
