Motor neurone disease (MND), a progressive and ultimately fatal neurodegenerative disease, is often clinically difficult to diagnose with insidious onset and different combinations of upper and lower motor neurone findings including changes in speech and swallowing, muscle atrophy, spasticity, hyperreflexia and progressive weakness.
For people who live in remote or rural areas of Australia, accessing MND specialist support services can pose additional challenges due to distance, isolation and lack of adequate resources. Early recognition of MND symptoms and timely referral to a neurologist is of highest importance for people living in country communities.
Rural and remote general practitioners now have access to a diagnostic tool developed by MND Australia.
Painless, progressive weakness – Could this be motor neurone disease? highlights MND ‘red flags’ and aims to prompt early recognition of potential MND symptoms during health examinations and treatments.
There is no single investigation specific to MND (also referred to as Amyotrophic Lateral Sclerosis or ALS) and no sensitive disease-specific biomarker, so diagnosis is based on symptoms, clinical findings and the results of electro-diagnostic, neuroimaging and laboratory studies.
In reaching a confirmation of MND, the diagnostic period is often lengthy. On average, the time from first symptoms to diagnosis is 14 months while, for people diagnosed with MND, the time from diagnosis to death is just two and a half years. Rapid and accurate diagnosis is crucial in ensuring the needs of people living with MND are met from the earliest possible stage.
Painless, progressive weakness – Could this be motor neurone disease? aims to assist health professionals in their referral to a neurologist thereby speeding up the time to an accurate diagnosis.
There are a proposed handful of key clinical features on examination which, in the presence of a history of progressive weakness, should prompt suspicion for a diagnosis of MND. These include flaccid weakness, muscle atrophy, muscle cramps and widespread fasciculations or muscle twitches that may be visible as brief twitching under the skin or in the tongue. Lower motor neurone (LMN) loss to the diaphragm results in shortness of breath, resulting in disturbed sleep and nocturnal hypoventilation. LMN weakness affecting bulbar muscles may present as slurred, nasal or hoarse speech, difficulty in swallowing, or drooling while upper motor neurone (UMN) involvement may present as slow and spastic speech. Other UMN features include muscle spasticity, hyperreflexia, increased muscle tone and involuntary muscle spasms and upgoing plantar responses (Babinski’s sign).
The new diagnostic tool outlines MND signs and symptoms including bulbar and limb features, respiratory and cognitive features as well as supporting factors that point towards a diagnosis of MND. Health professionals can download tool from the MNDcare website www.mndcare.net.au Painless, progressive weakness – Could this be motor neurone disease?
All MND enquiries can be made via the toll-free number: 1800 777 175