Current Management of MND

There is no individual test that provides a definitive diagnosis of MND. All investigations are aimed at confirming the presence of upper and lower motor neuron degeneration, while excluding other conditions that could mimic the clinical presentation, such as motor neuropathies (e.g. multifocal motor neuropathy with conduction block), cervical myelopathy with polyradiculopathy, multiple sclerosis and other rare metabolic conditions. Neuroimaging is performed to exclude structural pathology, and neurophysiological studies are performed to confirm the presence of acute and chronic denervation, the absence of sensory findings, and to ensure that mimic syndromes are excluded.

A series of diagnostic criteria have established for ALS/MND – the most recently published being the Gold Coast Criteria, requiring progressive upper and lower motor neuron signs in at least region, and exclusion of other possible causes (BOX 1). However, there remains an urgent need for diagnostic biomarkers for MND. Candidate markers include neurofilaments which are elevated in CSF and blood in MND, altered levels of circulating microRNA, imaging and neurophysiology based technologies, although additional studies are required before these can be used in clinical practice. For most patients, definitive diagnosis takes 12 -15 months, and most patients are seen by 3-5 different healthcare professionals before the diagnosis is entertained. “Red Flags” that should alert the clinician to the possibility of MND include progressive painless loss of function in bulbar or limb regions, unexplained weight associated with dyspnoea, and the presence of progress dysarthria with associated tongue fasciculations. A number of initiatives to increase awareness have been launched, including a recent policy paper presented to the European parliament in September 2023 https://www. alscoalition.eu/.