Motor Neurone Disease therapy & management Flashcards
What is Motor Neurone Disease?
A group of related Neuromuscular Diseases including: - Amyotrophic lateral sclerosis (ALS) - Primary lateral sclerosis - Progressive muscular atrophy - Progressive bulbar palsy - Spinal muscular atrophy
Affects the motor nerves in the CNS, PNS or both.
Nerves become damaged & muscles they control
become weaken & waste.
Is MND a progressive degenerative disease?
yes
What are the risk factors associated with MND?
• 1 in 300 risk of developing MND
• Occurs in adults or children, depending on the type.
• More likely to affect men than women.
• Inherited forms of the condition may be present (1 in 10 people with
MND, there is evidence of a family history with the disease).
What is the cause of MND?
• 5-10% of MND cases are familial, 90-95% occur sporadic
• Some genes for familial and sporadic MND are known.
• The C9orf72 gene now thought to be:
• the most common genetic cause of front temporal dementia (FTD)
• It also counts for 24% of genetic defects of familial MND and 4% in sporadic
MND
• Environmental contribution?
What occurs in terms of anatomy in MND?
• In motor neurone disease connections from the brain to the spinal cord (UMN) and from the spinal cord to the muscle (LMN) may die.
• This results in a loss of muscle
control and atrophy
What motor pathways are Upper motor neurones?
- Corticospinal tract
* Corticobulbar tract
What motor pathways are Lower motor neurones?
- Anterior horn cell
- Efferent peripheral
pathways
What are the symptoms of MND?
- muscle weakness
- muscle cramps and spasms
- stiff joints
- pain or discomfort
- speech and communication problems
- swallowing difficulties
- saliva problems
- weakened coughing
- breathing problems
- emotional lability
- changes to thinking and behaviour
What are the signs for upper MND/ UMN?
- Weakness
- Hyper-reflexia
- Hypertonia
- Clonus
- Babinski
What are the signs for lower MND/ LMN?
- Weakness
- Fasciculations
- Hypo-reflexia
- Hypotonia
- Atrophy
How do you diagnose MND?
• Exclude other etiologies
• History of onset
• Clinical presence of motor neuron signs:
• UMN signs
• LMN signs
• Limb onset e.g. muscle weakness, cramps, twitching.
• Bulbar onset e.g. swallow (dysphagia) or speech(dysarthria)
difficulties.
• Resp onset e.g. SOB, weak cough, shallow breaths
What is the progression of MND like?
• TDP-43 protein a core component of MND pathology but unclear of
role.
• No clearly defined stages
• Patients do not follow a set pattern
• Variable distribution of weakness + clinical course
• Eventually general weakness so profound patient confined to bed or
wheelchair
• Many need admission to special units
What are good/poor prognosis
Better prognosis: • The rate of change in the first year • Pure UMN or pure LMN syndromes • Regional syndromes (upper or lower limb)
Poor Prognosis
• Elderly
• Bulbar onset
• Early respiratory involvement
What’s the most common phenotype?
ALS
What’s the life expectancy of a person with ALS?
- Most people die 2-3 years
- 25% alive at 5 years
- 5-10% alive at 10 years
- Stephen Hawking – ALS
- lived for decades so there are exceptions.
What are the phenotypes and life expectancy for each?
There’s 4
- Amyotrophic Lateral Sclerosis (Lou Gehrig’s)
- Prognosis 3-5 yrs
- Progressive bulbar palsy
- Prognosis 6m-3yrs
- Progressive muscle atrophy
- Prognosis 5yrs +
- Primary lateral sclerosis
- Possible normal life span
What’s the management for MND (overview)
- No cure
- MDT approach
- Maintain functional ability (use ICF framework)
- Enabling to live life as full as possible
- Early diagnosis
- Provision of medication and aids
- Communication
- Advanced care planning
What are the common cognitive impairments for MND patients?
- Dysphagia
- Dysarthria
What are the common impairments for MND patients?
Respiratory impairment
Muscle weakness, Muscle
atrophy, Muscle cramps,
Spasticity, Loss of range, pain
Take home points about cognition of MND patients.
• Almost all have capacity • May have difficulty with learning new technologies • May be less engaged with health professionals / family • May be less able to understand carers emotional needs / exhaustion
What is Dysarthria?
• When speech becomes slurred (‘drunk’) • Making it difficult for others to understand them • Complex and distressing • Common towards end of life • Exacerbated by respiratory weakness • Social isolation - avoidance from both patient and others • Difficulty expressing own wishes - Medical management, end of life
What Augmentative and Alternative
communication - AAC, is out there?
• Text to speech apps • Voice banking / phrase banking • To start early • Eye Gaze technology • Scanning devices – switch operated • E-tran frame • Alphabet boards but all the above need literacy, fluency and common language
How help is there for Dysphagia and Nutrition?
- Speech and language therapy, dietetic input
- Common for most patients towards end of life
- Problem of 3 parts:
- Oral care
- Sialorrhea: hypersalivation → drooling
- Swallowing
- Management:
- Diet and fluid modification,
- Safety strategies: posture, adapted cutlery, feeding techniques
- Risk feeding and/ or enteral feeding options
- timing of interventions : clinical safety and patient choice
- PEGS
- RIGS
- Taste for pleasure
What are the Dysphagia – red flags?
Extended mealtimes • Dietary modification • Loss of appetite / interest in meals • Weight loss of > 5% in 3 months - Malnutrition Universal Screening Tool - dietetic referral • Chest infections
What is Dyspnoea and how prevalent is it in MND patients?
• Dyspnoea – difficulty breathing - is a problem for
up to 85% of people with MND
• Quality of life correlates with respiratory
symptoms
• Often described as the terminal event in MND
What are the Red flags - Dyspnoea?
- Orthopnoea - sob when lying flat
- Unable to speak in sentences
- Can’t sing / cough / blow their nose
- Can’t eat and breathe
- Nocturnal hypoventilation
- FVC 70 - 50 % of predicted
What is the role of exercise in MND?
• Maintain/ improve muscles NOT affected by MND
• Maintain flexibility of muscles that are affected
• Prevent fatigue and disuse atrophy
• Cochrane Review 2013 (Dal Bello-Has & Florence JM):
• Number of included studies small
• Unable to determine if strengthening exercises are
beneficial or harmful.
• No reported adverse events due to exercise
• Resistance, Endurance, or Stretching/Range of Motion
exercise safe (RCT Clawson LL et al., 2018)
What type of exercise dosage is recommended for MND patients?
- Select a mode of exercise with minimal risk
- recumbent stationary bike as opposed to treadmill
- Moderate, submaximal level
- Consider carer support
- Supply orthotics as required
- Avoid high-resistance exercise
- Progression to heavier loads depends on disease stage
- Don’t exercise muscles < grade 3/5
- Avoid eccentric exercise
What can be done to ease cramps in MND patients?
• A cramp is a sudden, involuntary painful
contraction
• Many people with MND experience cramps
- Ranging from mild cramps to very severe, painful cramps.
• To consider quinine as first-line treatment
- If not effective, tolerated or contraindicated,
consider baclofen or if this is not possible
consider tizanidine, dantrolene or gabapentin
What can be done to ease spacisticty in MND patients?
• Consider baclofen, tizanidine, dantrolene or gabapentin to treat
muscle stiffness, spasticity or increased tone
• Consider referral to specialist service for treatment of severe
spasticity (NICE GUIDELINES, 2016)
• Nabiximols, a cannabis-based oral spray, significantly improved
spasticity symptoms in combination with antispasticity drugs in
patients with MND
• in a randomized phase 2 clinical trial
• Findings need to be confirmed in phase 3 trials
What can be done to ease fatigue in MND patients?
• No firm conclusions can be drawn about the effectiveness of
interventions to improve fatigue for people with MND
• Few randomised studies
• Quality of available evidence is very low
What can be done to help mobility in MND patients?
• Maintain standing /walking as long as possible • Ensure equipment meet changing needs • Refer to wheelchair services without delay • Manual and/or powered wheelchair • Walking aids • Rollator frame, 4WW, crutches, stick
What can be done to help dexterity in MND patients?
Thickened handles on cutlery, pens, toothbrushes
to assist with weak grip
