Motor Neurone Disease Clinical Pathways and Referral Network

The importance of timely diagnosis

Rapid and accurate diagnosis, performed by a medical doctor experienced in MND care, usually a neurologist, is crucial in ensuring the needs of people living with MND are met from the earliest possible stage.

Presentation of Symptoms to GP

• Muscle aches, cramps, twitching
• Clumsiness, stumbling
• Weakness or changes in hands, arms, legs and voice
• Slurred speech, swallowing or chewing difficulty
• Fatigue
• Muscle wasting, weight loss
• Emotional lability - for example, where a slight upset can cause an exaggerated response, such as crying or laughing
• Cognitive change (changes in thought processes)
• Respiratory changes.

Quality of life for people with MND may be improved by

• Accurate recognition of the condition
• Explanation of the likely progression of symptoms within a supportive therapy team
• Prompt introduction of appropriate treatments and interventions.

How MND is diagnosed

There is no single test to diagnose Motor Neurone Disease and every patient is different. The medical team decides which tests should be performed on a case-by-case basis.

Diagnosis is based on features in the clinical history and examination, usually accompanied by electrophysiological tests, which will include EMG and nerve conduction studies.

Other tests may include:

• MRI scanning of the brain and spinal cord
• Various blood tests
• Lumbar puncture
• Muscle biopsy

The purpose of these tests is to exclude the presence of other neurological conditions, with particular focus on those with treatments likely to be effective if administered early. In the early stages of MND, symptoms can be like those seen in other conditions, so people may spend months seeing various specialists and undergoing unsuccessful treatments until MND is suspected.

The Motor Neurone Disease diagnostic tool for GPs, produced in partnership with the Royal Australasian College of General Practitioners (RACGP), is designed to improve timely referrals to neurology and therefore speed up the time to an accurate diagnosis.