Motor Neurone Disease Flashcards
What is the commonest MND in adults?
ALS- lou Gehrig’s disease
How does MND present?
Problems with speech, swallow and breathing
Upper and/or lower MD signs without sensory problems
Describe the progression of MND?
Focal onset and continuous spread, finally generalised paresis
What is the median survival after symptom onset?
3 years
90% of MND is ______
90% of MND is sporadic
A genetic aetiology has been identified in up to __% of sporadic and __% of genetic familial cases
A genetic aetiology has been identified in up to 20% of sporadic and 60% of genetic familial cases
Sporadic MND peaks at the ages of __-__ years and declines after age __
Sporadic MND peaks at the ages of 50-75 years and declines after age 80
ALS is less common in which population?
Non-caucasuan populations
What is included in MND?
Amyotrophic Lateral Sclerosis
Progressive muscular atrophy
Progressive bulbar palsy
Primary lateral sclerosis
List the UMN signs in MND
Increased tone Hyper-reflexia Extensor plantar gait Exaggerated Jaw-jerk Slows movements
List the LMN signs in MND
Muscle wasting
Weakness
Fasciculations
Absent or reduced deep tendon reflexes
What percentage of patients have primary bulbar onset MND? Which gender and age is affected?
25%
Women > Men (60-80)
What is the prognosis of primary bulbar MND?
Generalisation into ALS
What are the therapeutic interventions for primary bulbar ALS?
Early communicator
Nutritional support
Care for URT
What is affected by bulbar dysfunction?
Tongue muscles, facial muscles and pharyngeal muscles
What is seen in spinal dysfunction in NMD?
Muscle wasting
Loss of tone or contractures
What is split hand syndrome?
Preferential wasting of the thenar group is typical in ALS
Wasting of first dorsal interosseous and abductor policies brevis and preservation of abductor digits minimi
What are the ALS variants with more benign prognosis?
Flail arm syndrome Flail leg syndrome Primary Lateral Sclerosis Focal distal spinal muscular dystrophy Kennedy’s disease (SMA variant)
What is the pathology of MND?
Motor neurone degeneration and death
What is the investigation for NMD?
Electrophysiology
Describe clinically definite ALS
Upper and lower motor neurone signs in bulbar and at least two spinal (lumbosacral, thoracic, or cervical) regions
OR
Upper and Lower motor neurone signs in three spinal regions
Describe clinically probable ALS
Upper and lower motor neurone signs in at least two regions (bulbar or spinal) with some upper motor neurone signs rostral to the lower motor neurone signs
If lab supported= EMG findings of lower motor neurone involvement in at least two body regions
What are frequent misdiagnosis of MND?
Carpal tunnel syndrome, stroke, neuropathy
What are frequent false positive diagnosis of MND?
Multifocal motor neuropathy, Kennedy’s disease, myopathy (inclusion body myopathy), cervical spondylotic radiculomyelopathy
Describe on-going management in MND?
- Key worker assessing needs & coordination of care
- Communication needs (Speech therapy, technology from tablets to ‘voice banking’)
- Nutritional needs (dieticians, gastrostomy)
- Respiratory needs (assessment, Home ventilation)
- Riluzole
What is riluzole?
Riluzole delays the onset of ventilator-dependence or tracheostomy in some people and may increase survival by two to three months
Why is nutrition important in MND?
Metabolic need is doubled
A weight loss of >10% at diagnosis is a poor survival indicator
How should nutrition be managed?
- give small high energy supplements regularly
- consideration of upper limb (hand to mouth action) is important, carers may need to help
- early insertion of gastrostomy tubes should be clinical priority
What variations of gastrostomy can be used?
PEG- Percutaneous endoscopic gastrostomy
RIG- Radiologically Inserted Gastrostomy
PIGG- per-oral image guided gastrostomy
NG- Nasogastric tube
What is sialorrhoea?
Hypersalivation
What are the treatment options for sialorrhoea?
- Hyoscine/Buscopan
- Glycopyrronium (especially if cognitive impairment)
- Botox
- Suction/Humidification/Carbocisteine
What are the treatments for muscle cramps?
Quinine
Baclofen
What are the treatments for muscle spasms?
Baclofen
Tizanidine
Dantrolene
Gabapentin
What are the red flags of respiratory failure
Breathlesness Orthopnea Recurrent chest infection Disturbed sleep Non-refreshed sleep Nightmares Daytime sleepiness Poor concentration
What means of non-invasive ventilation can be used?
BiPAP mask
Commenced at night initially and gradually increases
What are the symptomatic treatments for SOB/anxiety?
Lorazepam
What are the symptomatic treatments for coughing?
Breath stacking
Cough assist
What is breath stacking?
Sit upright in a comfortable position
Take a deep breath in and hold it
Try to take another deep breath in on top of the previous breath
Aim to take another 1-3 breaths in the same way (3-5 breaths in total)
Breathe out or cough
Repeat this process 3-5 times
What must be up to date to withdraw NIV?
DNACPR, AWI, POA
What is emotional lability?
Inappropriate crying or laughing
Part of UMN signs
Sometimes treated with antidepressants
What percentage of MND patients have cognitive impairment?
50%
