Motor Neurone Disease
Melanie Worthington
Regional Care Development Adviser
Lancashire & Cumbria
Motor Neurone Disease Association
Tel: 08453 751841
MND Connect: 08457 626262
Neurological Facts
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10 million people in UK have a neurological condition
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Account for 20% of acute hospital admissions
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Third most common reason for visit to GP
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850,000 carers
• 69% of primary care budget is spent on long term conditions
(Department of Health)
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MND – over 5,000 people in UK
Parkinson’s Disease – 120,000
• Multiple Sclerosis – 100,000
What is Motor Neurone
Disease
Motor Neurone Disease
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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 (out of the blue)
5-10% Familial – 200-300 people
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 – can progress swiftly
Who does it affect ?
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Relatively uncommon
Annual incidence of 2 in 100,000
Prevalence 5-7 per 100,000
More common in men but over 65 yrs
becomes more even
• GPs 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
Lower motor neurones (LMN)
originate in the spinal cord:
Wasting/Weakness
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:
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mechanical/electrical trauma
Military service
High levels of exercise
Agricultural chemicals and
heavy metals
Evidence is often circumstantial
and conflicting
Familial – 5-10%
•Rare
•Research found genetic
faults
•SOD 1, FUS, VCP and
TDP-43 genes
•Ubiquilin protein gene
•Chromosone 9
Types of Motor Neurone
Disease
Amyotrophic Lateral
Sclerosis (ALS)
Progressive Bulbar
Palsy (PBP)
20% of cases (onset)
•involves UMNs and
65 - 66% of cases (onset)
LMNs
• dysarthria
• involves UMNs and
• dysphagia
LMNs
• emotional lability
• muscle weakness – often
• progressive
• develops in hands and
weakness in upper
• feet first, spasticity,
limbs/neck/
• hyperactive reflexes
shoulder girdle
Progressive Muscular
Atrophy (PMA)
7.5% - 10% of cases
Primary Lateral
Sclerosis (PLS)
2% of cases
• predominantly LMNs
affected (may start in
small muscles of hand)
• muscle wasting,
weakness
• fasciculation
• 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
• Lack of definitive test problematic
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 lability
• 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, self esteem and
confidence
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Financial
Home environment
Communication difficulties
Increasing isolation and dependence on carers
Anxiety, Fear, 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
Palliative care
Rehabilitation
medicine
Sensitive
Management
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).
Multidisciplinary approach
End of Life Decisions
• Advanced Care Planning
• Advanced decision to refuse treatment
(ADART)
• Advanced Statment of wishes and
preferences
• Preferred Priorities of Care (PPC)
• Withdrawal of treatments
• Tissue donations
MND Association Support
Provided to plwMND, families, carers and
professionals
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Standards of Care
Regional Care Development Advisers
Association Visitors and Volunteers
Equipment Loan
Financial Support
Care Information
MND Connect
Local Branch Network
Care Centre Programme
Education/Training
www.mndassociation.org
Motor Neurone Disease
• Melanie Worthington
RCDA Lancashire and Cumbria
Tel: 08453 751841
melanie.worthington@mndassociation.org
• Preston MND Care & Research Centre
Royal Preston Hospital
Tel: 01772 522545
• MND Connect: 08457 626262
• mndconnect@mndassociation.org