MND intro Flashcards
Motor Neuron Disease?
- Devastating condition causing progressive weakness and eventually death, usually as a result of respiratory failure or aspiration
- Untreatable and rapidly progressive neurodegenerative condition
- Mainly clinical diagnosis-clinical examination rather than lab or scan diagnosis
- Muscle weakness and potentially problems with speech, swallow & breathing
- Upper and/or Lower motor neurone signs without sensory problems
- Focal onset and continuous spread, finally generalized paresis-one part and then entire body
- MND exhibits variable clinical phenotypes!-it’s not a single pheno, MND variable hastesh, fk nakon ba ye pattern khasi dare
- symptom/presentation
- Amyotrophic lateral sclerosis is the most common subtype of MND
- Cognitive impairment (behavioural changes) is a feature of MND
- 90 % ‘sporadic-no strong family history’ and 10% ‘familial
- both female and male
——is the most common motor neuron disease (MND) phenotype in adults which is the mixture of both
ALS
Clinical presentation?
- Classically, there is a combination ofupper motor neuron and lower motor neuron signs.
- Upper motor neuron signs include spasticity, hyperreflexia and upgoing plantars (though they are often down going in MND)
- Lower motor neuron signs include fasciculations, and later atrophy
- Generally, the eye and sphincter muscles are spared until late in the disease course and sensory disturbance is NOT seen
- Focal onset and continuous spread, finally generalised paresis
Clinical patterns?
The four clinical groups are:
- Spinal ALS
- Bulbar ALS
- Pure lower motor neurone presentation with weakness, muscle wasting and fasciculations, usually starting in one limb and gradually spreading to involve other adjacent spinal segments
- Primary lateral sclerosis - only upper motor neuron features (1-2% - rare)
- Confined to upper motor neurones, causing a slowly progressive tetraparesis and pseudobulbar palsy
Spinal ALS representation?
- the classic MND syndrome
- Simultaneous involvement of upper and lower motor neurones, usually in one limb, spreading gradually to other limbs and trunk muscles
- muscle wasting
- Loss of tone or contractures
- Split hand syndrome - preferential wasting of thenar group is a typical pattern of atrophy seen in ALS
Bulbar dysfunction/ALS?
- early tongue and bulbar involvement
- Dysarthria, dysphagia, nasal regurgitation of fluids and choking are the presenting symptoms
- leads to ALS
Progressive muscular atrophy?
- only lower motor neurone features
- Pure lower motor neurone presentation with weakness, muscle wasting and fasciculations, usually starting in one limb and gradually spreading to involve other adjacent spinal segments
Primary lateral sclerosis?
- only upper motor neuron features (1-2% - rare)
- Confined to upper motor neurones, causing a slowly progressive tetraparesis and pseudobulbar palsy
Upper and lower motor neuron signs in MND?
Investigations?
- Diagnosis is largely clinical
- Investigations allow exclusion of other disorders and may confirm subclinical involvement of muscle groups, such as paraspinal muscles
- Denervation of muscles due to degeneration of lower motor neurones is confirmed by EMG
On-going management
-regular rapid ongoing assessments – patients seen 4-6 weekly if needed
- Key worker assessing needs and coordination of care like MND nurses
- Communication needs - speech therapy, AAC
- Nutritional needs - dieticians, gastrostomy
- Metabolic rate in MND is doubled - weight loss of >10% at diagnosis is a poor survival indicator
- Respiratory needs - assessment, home ventilation
- Riluzole is a sodium-channel blocker that inhibits glutamate release - slows progression slightly, increasing life expectancy by 3–4 months on average
Symptomatic treatments
- Sialorrhoea - hyoscine/buscopan, glycopyrronium, botox, suction
- Nutrition - supplements/thickeners, liquid drug preparations
- Bulbar dysfunction - early communicator, nutritional support, care for upper respiratory tract
- Limb dysfunction - washing, dressing, feeding, turning in bed, mobility aids/hoists often necessary
- Muscle cramps - quinine, baclofen
- Muscle spasms - baclofen, tizanidine, dantroline, gabapentin
- Emotional lability - sometimes treated with antidepressants
- Cognitive impairment - always be aware of capacity
Red flag signs of respiratory failure?
Breathlessness
Orthopnea
Recurrent chest infection
Disturbed sleep
Non-refreshed sleep
Nightmares
Daytime sleepiness
Poor concentration
