Transcript Motor Neurone Disease - Medicine is an art

MOTOR NEURONE DISEASE
PROF MOHAMMAD ABDULJABBAR
WHAT IS MOTOR NEURONE DISEASE
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.
USEFUL CLUES
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Progressive
Incurable
rare
Group of related diseases
Motor neurones are affected
Upper and lower limb weakness
Speech and swallowing difficulties
Breathing difficulties
WHO DOES IT AFFECT ?
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
What is Motor Neurone Disease?
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Upper motor neurones (UMN)
originate in the base of the cortex of
the brain : Spasticity
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Lower motor neurones (LMN)
originate in the spinal cord:
Wasting/Weakness
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Act as transmitters that provide a
chain of command for voluntary
movement to muscles throughout
the body
•
In MND this chain of command is
broken as neurones degenerate
CAUSES OF MND
Sporadic – 90%
 Risk factors: genetic,
environmental and lifestyle
factors that may tip the
balance:
- mechanical/electrical
trauma
- Military service
- High levels of exercise
- A gricultural chemicals and
heavy metals
Evidence is of ten
circumstantial
and conflicting
Familial – 5-10%
•Rare
•Research found genetic
faults
•SOD 1, FUS, VCP and TDP-43
genes
•Ubiquilin protein gene
•Chromosome 9
T YPES OF MOTOR NEURONE DISEASE
DIFFERENT TYPES
Lots of overlap
Classified
1) in terms of the motor neurones affected
2) Symptoms
Bulbar –refers to
face/speech/swallowing
Amyotrophic Lateral
Sclerosis (ALS)
Progressive Bulbar
Palsy (PBP)
65 - 66% of cases (onset)
20% of cases (onset)
• involves UMNs and
LMNs
• muscle weakness – often
• develops in hands and
feet first, spasticity.
• hyperactive reflexes
•involves UMNs and
LMNs
• dysarthria
• dysphagia
• emotional lability
• progressive weakness
in upper limbs , neck
and shoulders.
Progressive Muscular
Atrophy (PMA)
Primary Lateral
Sclerosis (PLS)
7.5% - 10% of cases
• predominantly LMNs
affected (may start in
small muscles of hand)
• muscle wasting,
weakness
• fasciculation
2% of cases
• rare
• UMNs only
• muscle weakness
• stiffness
• balance
• dysarthria
• does not shorten
survival
(may in time develop UMN
involvement and may eventually
develop some speech problems)
Course of Disease
• Onset and progression variable
• Is always progressive with no remissions
• Usually affects both the upper and
lower motor neurones
• 90% develop some bulbar symptoms
• Death often through respiratory failure
SITE OF ONSET
Limb (usually distal)
Bulbar
Respiratory
Early Symptoms
Depend on area of nervous system affected:
• stumbling
• foot drop
• loss of dexterity
• weakened grip
• cramps
• change of voice quality
• slurred speech
• early swallowing difficulties
• muscle wasting
• fatigue
DIAGNOSIS OF MOTOR NEURONE
DISEASE
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
HOW IS MND DIAGNOSED?
Interpretation of clinical symptoms and signs
Investigations to exclude other causes
MRI
Lumbar puncture
TESTS
Bloods see if raised CK – can be raised in
MND but not diagnostic
EMG – Taken from each limb and the
bulbar(throat) muscles- abnormal in MND as
the electrical activity of the muscles is
changed
Nerve conduction tests
Trans-cranial magnetic stimulation – tests
upper motor neurones
MRI – eliminates other diseases
May need Lumbar puncture or muscle biopsy
EFFECTS OF MOTOR NEURONE
DISEASE
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
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
PSYCHOSOCIAL IMPACT
 Multiple losses: physical loss, loss of control,
role, 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.
Cognitive changes
• MND has been traditionally viewed at a
disease affecting the motor system with no
compromise of cognitive abilities
• Recent research shows that 25% or more
show some cognitive changes in the frontal
lobe region
• 3-5% will have fronto-temporal dementia
(FTD)
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
TREATMENTS AND
INTERVENTIONS
Aims of Management
•Control of symptoms.
• Promote independence and control – usually
supported at home as much as possible.
• Plan appropriate interventions.
• Enable person with MND and family to live as
full a life as possible.
TREATMENTS/INTERVENTIONS IN
MND
Multidisciplinary
approach
Sensitive
Management
Palliative care
Rehabilitation
medicine
Person
with
MND
Pharmaceutical
management of
symptoms
Nutritional support
PEG/RIG
Respiratory care
Disease modifying
therapy
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).
MEDICATION
- Medications for symptoms
- Muscle cramps – Carbamazepine and Phenytoin
- Muscle Stiffness – Muscle relaxants
Botox and intrathecal baclofen
- Drooling – Hyosine and atropine
- Pain – usual analgesia/Gabapentin
MULTIDISCIPLINARY
APPROACH
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.
THANK YOU