MND

Question 1

What is it? What are the various types?

Answer 1

Motor neurone disease is an umbrella term that encompasses a variety of specific diagnoses. Motor neurone disease is a progressive, ultimately fatal condition where the motor neurones stop functioning. There is no effect on the sensory neurones and patients should not experience any sensory symptoms.

Amyotrophic lateral sclerosis (ALS) is the most common and well-known specific motor neurone disease. Stephen Hawking had amyotrophic lateral sclerosis.

Progressive bulbar palsy is the second most common form of motor neurone disease. It affects primarily the muscles of talking and swallowing.

Other types of motor neurone disease to be aware of are progressive muscular atrophy and primary lateral sclerosis.

Question 2

Presentation

Answer 2

The typical patient is a late middle aged (e.g. 60) man, possibly with an affected relative. There is an insidious, progressive weakness of the muscles throughout the body affecting the limbs, trunk, face and speech. The weakness is often first noticed in the upper limbs. There may be increased fatigue when exercising. They may complain of clumsiness, dropping things more often or tripping over. They can develop slurred speech (dysarthria).

Signs of lower motor neurone disease:

Muscle wasting
Reduced tone
Fasciculations (twitches in the muscles)
Reduced reflexes

Signs of upper motor neurone disease:

Increased tone or spasticity
Brisk reflexes
Upgoing plantar responses

Question 3

Diagnosis

Answer 3

The diagnosis of motor neurone disease needs to be made very carefully. It is based on the clinical presentation and excluding other conditions that can cause motor neurone symptoms.

Question 4

Management

Answer 4

Riluzole can slow the progression of the disease and extend survival by a few months in ALS. It is licensed in the UK and should be initiated by a specialist.

Edaravone is currently used in the United States but not the UK. Recent studies suggest it has the potential to slow the progression of the disease and it may come in to use in the future.

Non-invasive ventilation (NIV) used at home to support breathing at night improves survival and quality of life.

The key to management of the condition is supporting the person and their family.

Effectively breaking bad news
Involving the multidisciplinary team (MDT) in supporting and maintaining their quality of life
Advanced directives to document the patient’s wishes as the disease progresses
End of life care planning
Patients usually die of respiratory failure or pneumonia