Motor Neurone Disease

Melanie Worthington
Regional Care Development Adviser
Lancashire & Cumbria
Motor Neurone Disease Association
Tel: 08453 751841
MND Connect: 08457 626262

Neurological Facts

10 million people in UK have a neurological condition

Account for 20% of acute hospital admissions

Third most common reason for visit to GP

850,000 carers

69% of primary care budget is spent on long term conditions

(Department of Health)

MND over 5,000 people in UK

Parkinsons Disease 120,000
Multiple Sclerosis 100,000

What is Motor Neurone

Disease

Motor Neurone Disease

Every person develops the disease in a different way

90% - 95% of people have the sporadic form (out of the blue)

Onset and progression is variable can progress swiftly

Symptoms experienced depends on the area of nervous system

affected
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

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 yrs
becomes more even
GPs can expect to see 1 or 2 cases during
their career

What is Motor Neurone Disease?

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:

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)
65 - 66% of cases (onset)

Progressive Bulbar
Palsy (PBP)
20% of cases (onset)
involves UMNs and

LMNs
involves UMNs and
dysarthria
LMNs
dysphagia
muscle weakness often
emotional lability
develops in hands and
progressive
feet first, spasticity,
weakness in upper
hyperactive reflexes
limbs/neck/
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

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 isnt 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

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