Advances in the clinical science of the motor unit: from motor neuron to neuromuscular junction

摘要

The era of descriptive neurology, which gave birth to pragmatic clinical terms such as 'amyotrophic lateral sclerosis', 'Charcot-Marie-Tooth disease' and 'myasthenia gravis', is now being challenged by a nosological landscape of formidable complexity, with each of these 'diseases' now understood to be clinical syndromes with many biological causes. Traditional clinical labels still make sense in everyday neurological practice and, in expert hands, allow the transmission of important information to patients about patterns of inheritance, natural history and prognosis. However, further developments in the molecular taxonomy of neuromuscular diseases are likely to be required in order to develop individualized therapies for different biological targets or functional pathways.