Motor Neurone Disease

Question 1

What is Motor Neuron Disease?

Answer 1

• Selective loss of upper and lower motor neurones in spinal cord, brainstem and motor cortex (O’Connor 2007)
• Very severe disease
• Amyotrophic Lateral Sclerosis (ALS) is the most common type
• Reasonably rare, ~4000 people living with MND in England and Wales (NICE, 2016)

Question 2

What causes or triggers Motor Neurone Disease?

Answer 2

Risk Factors
* No identified cause
* Some genetic links (10% familial)
* No ethnic trends
* Primarily affects people aged 40-60
* Particularly men
* Rare but severe (Hubert, 2023)

Prognosis
* Most die within 2-3 years of developing symptoms
* 25% alive at 5 years after diagnoses
* 10-15% show signs of frontotemporal dementia, causing cognitive issues
* 35% have mild cognitive change affecting decision making and forward planning
* 50% cognitively unaffected

Question 3

What is the pathophysiology of motor neurone disease?

Answer 3

• Progressive degenerative disease affecting upper motor neurons in cerebral cortex (causes spastic paralysis and hyperreflexia) and lower motor neurons in brain and spinal cord (causes flaccid paralysis with decreased muscle tone and reflexes).
• No indication of inflammation which is quite rare in neurological disease
• Reasons for cell death unknown
• Sensory neurons, memory and cranial nerves to eye muscles are not affected.
• Occurs in diffuse and asymmetric pattern, **proceeds without remission **
• No specific diagnostic tests.

Question 4

What are the signs and symptoms of Motor Neurone Disease?

Answer 4

• Loss of dexterity, trips, falls and other signs of muscle weakness
• Muscle cramps, twitching, wasting, stiffness
• Speech and swallowing problems
• Breathing problems (which eventually leads to death)
• Painless as only affecting motor neurones
• Fatal over time
• Can also present with behavioural changes or frontotemporal dementia
• Younger age and asymmetrical features are red flags for MND

Question 5

What is conventional diagnosis and treatment for Motor Neurone Disease?

Answer 5

Diagnosis
* Diagnosed by neurologist
* No single diagnostic test – based on clinical features and examination (may use electrophysical tests)
* Tests are mainly exclude other conditions (e.g. MRI, blood tests)
* Treatment should be coordinated with a multidisciplinary team
* Care focuses on maintaining functional ability and quality of life as long as possible

Treatment
* Psychological support
* Advance care planning discussions
* Pharmacological treatments for muscle problems (first line quinine)
* Exercises to maintain movements and function and reduce stiffness and contractures
* Advice and potentially medication to manage saliva problems
* Equipment to manage ADLs
* Identify and sort issues with nutrition (weight loss, swallowing problems)