Motor neuron disease Flashcards
What is the most common MND phenotype in adults?
Amyotrophic lateral sclerosis (ALS)
Is MND treatable?
No
What is the average time to death from diagnosis in MND?
18-20 months
What are typical presentations?
Muscle weakness
- Potentially problems with speech, swallow & breathing
Does MND effect sensory ability?
No purely motor
How does MND begin?
Focal onset (E.g. foot drop or arm weakness) and then this continuously spreads till dead or completely paralyzed
What is the average time to death from symptom onset in Scotland?
3 years
What is the lifetime risk of developing MND?
1/400
What proportion of MND patients are ‘sporadic’ and ‘familial’?
90% sporadic
10% familial
A genetic cause has been detected in what percentage of ‘sporadic’ and ‘familial’ cases?
20% of ‘sporadic’
60% of ‘familial’
What are the conditions that come under the MND ‘umbrella’?
- Amyotrophic lateral sclerosis (ALS)
- Primary lateral sclerosis (PLS)
- Progressive muscular atrophy (PML)
- Progressive bulbar palsy (PBP)
When is progressive muscular atrophy most common?
In young people
When does ‘sporadic’ MND peak?
50-75 Y/O - Falls off after 80
What percentage of MND is PML responsible for?
10%
What are clinical signs of upper motor neuron problem?
- Increased tone
- Hyper-reflexia
- Extensor plantar responses
- Spastic gait
- Exaggerated jaw jerk
- Slowed movements
What are clinical signs of lower motor neuron problem?
- Muscle wasting
- Weakness
- Fasciculations
- Absent or reduced deep tendon reflex
Does ALS present as an upper or lower motor neuron problem?
Mixed symptoms
- Hyper-reflexia
- Fasciculations & muscle wasting
What percentage of patients have only upper motor neuron signs?
10% - Very rare
PBP is more common in men or women?
Women
What management options are there for MND?
Communication support
Nutritional support
Care for upper respiratory tract
Bulbar MND (PBP) effects what?
Tongue muscles
Facial Muscles
Pharyngeal muscles
What variants of MND have a more benign prognosis?
One limb onset syndromes
- Flail arm
- Flail leg
Primary lateral sclerosis (PLS)
What is the primary investigation for MND?
Electrophysiology
What is the mechanism of MND?
Motor neuron degeneration and eventually death
How is MS diagnosis made?
Look for mixture of upper & lower motor neuron signs with no sensory symptoms
- Diagnosis of exclusion
How often are patients seen for management?
4-6 weekly
What does bulbar dysfunction lead to?
Speech and swallowing issues
How is metabolic rate effected in MND?
It is doubled
- Weight loss is a big issue
What drugs can be given for muscle cramps?
Baclofen
What drugs can be given for muscle spasms?
Baclofen
Tizanidine
Dantrolene
Gabapentin
When should Non-invasive ventilation (NIV) be offered?
Type 2 respiratory failure
What drugs can be given for shortness of breath/anxiety?
Lorazepam
What type of dementia is associated with MND?
Frontotemporal dementia
