MND intro

Question 1

Motor Neuron Disease?

Answer 1

• 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

Question 2

——is the most common motor neuron disease (MND) phenotype in adults which is the mixture of both

Answer 2

ALS

Question 3

Clinical presentation?

Answer 3

• 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

Question 4

Clinical patterns?

Answer 4

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

Question 5

Spinal ALS representation?

Answer 5

• 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

Question 6

Bulbar dysfunction/ALS?

Answer 6

• early tongue and bulbar involvement
• Dysarthria, dysphagia, nasal regurgitation of fluids and choking are the presenting symptoms
• leads to ALS

Question 7

Progressive muscular atrophy?

Answer 7

• 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

Question 8

Primary lateral sclerosis?

Answer 8

• only upper motor neuron features (1-2% - rare)
• Confined to upper motor neurones, causing a slowly progressive tetraparesis and pseudobulbar palsy

Question 9

Answer 9

Question 10

Upper and lower motor neuron signs in MND?

Answer 10

Question 11

Investigations?

Answer 11

• 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

Question 12

On-going management

Answer 12

-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

Question 13

Symptomatic treatments

Answer 13

• 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

Question 14

Red flag signs of respiratory failure?

Answer 14

Breathlessness
Orthopnea
Recurrent chest infection
Disturbed sleep
Non-refreshed sleep
Nightmares
Daytime sleepiness
Poor concentration