1. Motor Neurone Disease PROF MOHAMMAD ABDULJABBAR

2. What is Motor Neurone Disease

3. Motor Neurone Disease
Every person develops the disease in a different way
Symptoms experienced depends on the area of nervous system affected
90% - 95% of people have the sporadic form.
5-10% Familial.
Adult Illness – most people are over 50
Average survival 2-5 years from first symptoms.
From diagnosis 14 months average.
No cure but symptom management and medication that may improve quality or prolong life.
Onset and progression is variable.

4. What is Motor Neurone Disease?
Upper motor neurones (UMN) originate in the base of the cortex of the brain
Lower motor neurones (LMN) originate in the spinal cord

5. USEFUL CLUES Progressive Incurable rare Group of related diseases
Motor neurones are affected
Upper and lower limb weakness
Speech and swallowing difficulties
Breathing difficulties

6. INCEDANCE Relatively uncommon Annual incidence of 2 in 100,000
Prevalence 5-7 per 100,000
More common in men but over 65 years becomes more even
General practitioners can expect to see 1 or 2 cases during their career

7. Causes of MND

8. Environmental and Genetics
90%
Mechanical/electrical trauma
Military service
High levels of exercise
Agricultural chemicals and heavy metals
Risk factors
Environmental and Genetics
Familial – 5-10%
Rare
Research found genetic faults
SOD 1, FUS, VCP and TDP-43 genes
Ubiquilin protein gene
Chromosome 9
Evidence is often circumstantial
and conflicting

9. Types of Motor Neurone Disease

10. Bulbar –refers to face/speech/swallowing
Different Types
Overlap is common
Classified:
1) In terms of the motor neurones affected
2) Symptoms
Bulbar –refers to face/speech/swallowing

11. Muscle weakness – often Develops in hands and feet first, spasticity.
Amyotrophic Lateral
Sclerosis (ALS)
% of cases
Involves UMNs and
LMNs
Muscle weakness – often
Develops in hands and feet first, spasticity.
Hyperactive reflexes
Progressive Bulbar
Palsy (PBP)
20% of cases
Involves UMNs and
LMNs
Dysarthria
Dysphagia
Emotional lability
Progressive weakness
in upper limbs , neck
and shoulders.
AMYOTROPHIC LATERAL SCLEROSIS (ALS)
Most common form of MND (approximately 66%)
UMN and LMN involvement.
Muscle weakness, Spasticity, Hyperactive reflexes and emotional lability.
Age of onset 55+
Male : Female = 3:2
Onset to Death approximately 2-5 years.
PROGRESSIVE BULBAR PALSY (PBP)
Affects approximately 25%
Possible combination of UMN & LMN involvement.
DYSARTHRIA & DYSPHAGIA
LMN = Nasal speech, regurgitation of fluid via the nose, tongue atrophy and fasciculation and pharangeal weakness.
UMN = Spastic tongue, explosive dysarthria and emotional lability.
Muscles in the upper Limbs and Shoulder girdle may also become progressively weaker.
PBP occurs in older people – slightly more in females.
Onset of symptoms to Death approximately 6 months to 3 years.

12. Progressive Muscular Atrophy (PMA)
7.5%-10% of cases
Predominantly LMNs
affected (may start in
small muscles of hand)
Muscle wasting,
Weakness
Fasciculation
(may in time develop UMN involvement and may eventually develop some speech problems)
Primary Lateral
Sclerosis (PLS)
2% of cases
Rare
UMNs only
Muscle weakness
Stiffness
Dysarthria
Does not shorten
survival
PROGRESSIVE MUSCULAR ATROPHY (PMA)
Affects approximately 7.5% of people with MND.
LMN degeneration.
Muscle wasting and weakness. (often starting in the intrinsic muscles of the hand)
Loss of Weight and Fasciculation (Muscle Twitching)
Age of onset 50+
Male : Female = 5:1
Survival beyond 5 years.
PRIMARY LATERAL SCLEROSIS (PLS)
Rare form
UMN involvement only.
Spastic Quadriparesis, pseudo bulbar affect, spastic dysarthria, and Hyper flexia.
Survival rate of up to 20 years.
Overlap evident between forms of MND
People with PMA form in time develop UMN involvement.
In both PMA and ALS people eventually experience some degree of speech and swallowing difficulties.

13. Course of Disease Onset and progression variable
Is always progressive with no remissions
Usually affects both the upper and
lower motor neurons
90% develop some bulbar symptoms
Death often through respiratory failure

14. Site of Onset
Limbs (usually distal)
Bulbar
Respiratory

15. Early Symptoms Stumbling Foot drop loss of dexterity Weakened grip
Cramps
Change of voice quality
Slurred speech
Early swallowing difficulties
Muscle wasting
Fatigue

16. Diagnosis of Motor Neurone Disease

17. Diagnosis On average, it takes 14 months from first
symptoms to diagnose MND
First signs and symptoms often subtle and
non-specific, similar to other diseases
Person often not referred to a neurologist directly
No definitive diagnostic test

18. (How is MND Diagnosed) Interpretation of clinical symptoms and signs
Investigations to exclude other causes
MRI
Lumbar puncture
You have to exclude, other conditions.

19. Tests Bloods : Raised CPK – can be seen in MND but not diagnostic
EMG : Taken from each limbs-abnormal in MND as the electrical activity of the muscles is changed
Nerve conduction tests normal
Trans-cranial magnetic stimulation – tests upper motor neurones
MRI : Eliminates other diseases
May need Lumbar puncture or muscle biopsy

20. Effects of Motor Neurone Disease

21. Effects of MND Progressive muscle weakness and wasting Loss of weight
Fasciculation, cramp and spasticity
Dysarthria-slurred effortful speech
Saliva and Mucus Problems
Dysphagia - poor swallow due to weakness and paralysis of bulbar muscles
Respiratory muscle weakness
Emotional liability
Cognitive changes
Dysphagia –
Problems with lip seal
Chew – propel food with the tongue
And/or form bolus
Poor or absent swallow reflex
Failure to close airway
Muscle spasm

22. Clues to respiratory muscle involvement in MND
Breathlessness
on minimal exertion
on lying flat
Poor sleep
Excessive daytime sleepiness
Headaches on awakening
Excessive nocturnal sweating
Occasionally respiratory problems will be the presenting symptom but more usually the problems develop as the disease progresses. It is the muscles that govern voluntary control of breathing that are affected. Increased respiratory muscle weakness contributes to fatigue and decreased physical ability. Some of the symptoms may include shortness of breath, but if a person is not very mobile, it may be hard to see this. However if someone complains of headaches on waking, difficulty lying flat and sleepiness during the day, they may well be retaining CO2 overnight, which gives them the headaches and other symptoms. Care Workers may well be in a crucial position to notice these symptoms, especially with those who live alone. The person can be reassured and careful positioning may well help. Liaison with the Occupational Therapist, the Physiotherapist and particularly with the GP and/or Consultant, will ensure the person is referred appropriately for respiratory assessment.

23. Psychosocial Impact
Multiple losses: physical loss, loss of control, and independence. Self image and confidence.
Financial.
Home environment.
Communication difficulties.
Increasing isolation and dependence on carers.
Anxiety, Fear and Anger.
Knowledge of own impending deterioration and death.
Mention carers/ isolation for both

24. Cognitive changes MND has been traditionally viewed at a
disease affecting the motor system
Compromise of cognitive abilities
Recent research shows that 25%
Show some cognitive changes
3-5% will have fronto-temporal dementia

25. What isn’t affected by MND
Senses: touch, taste, sight, smell and hearing
Bowel and bladder function
Sexual function and sexuality
Eye Muscles
Heart muscles

26. Treatments and Interventions

27. Support at home as much as possible. Plan appropriate interventions.
Aims of Management
Control of symptoms.
Promote independence
Support at home as much as possible.
Plan appropriate interventions.

28. Treatments/interventions in MND
Multidisciplinary approach
Sensitive Management
Palliative care
Person with MND
Nutritional support
PEG/RIG
Rehabilitation medicine
Pharmaceutical management of symptoms
Respiratory care
Disease modifying therapy

29. Life Prolonging Interventions
Riluzole only drug to have beneficial effect on survival : 3-4 months.
Respiratory care: Non-invasive ventilation (NIV).
To improve quality of life.
Median survival extended 205 days (Miller et all 2009).

30. Medications for symptoms
Muscle cramps (Carbamazepine and Phenytoin)
Muscle Stiffness (Muscle relaxants)
Botox and intrathecal baclofen
Drooling (Hyosine and atropine)
Pain (analgesia/Gabapentin)

32. End of Life Decisions Advanced Care Planning.
Advanced decision to refuse treatment (ADART).
Advanced Statement of wishes and preferences.
Preferred Priorities of Care (PPC).
Withdrawal of treatments.
Tissue donations.
Milestones/decision points
Decision making
Why advance planning?
When is the right time?
Ethical issues:MND

33. THANK YOU