![]() Globally, the most common motor neuronopathy in children is attributable to picornavirus infections, including coxsackievirus, enterovirus 68 and 71, echovirus, and polio, presenting with an acute flaccid paralysis that may occur in outbreaks. The hallmarks are weakness and atrophy from disruption of the lower motor neuron and/or spasticity from upper motor neuron dysfunction. Motor neuron diseases (MND) are a heterogeneous group of progressive disorders resulting in difficulties walking, moving, breathing, and swallowing, with onset ranging from birth to adulthood. Specific disease-modifying treatment is becoming a clinical reality in some disorders of the motor neuron highlighting the importance of a timely and specific diagnosis. This review incorporates an overview of the clinical manifestations, genetics, and pathophysiology of inherited paediatric motor neuron disorders beyond classic SMN1-related spinal muscular atrophy and describes recent advances in next generation sequencing and its clinical application. Common pathophysiologies include abnormalities in axonal architecture and function, RNA processing, and protein quality control. In turn, improved genetic technology and subsequent gene identification have enabled further insights into the mechanisms of motor neuron degeneration and how these diseases form part of a neurodegenerative disorder spectrum. This has reinforced the clinical phenotyping and molecular genetic expertise required to navigate the complexities of such diagnoses. ![]() While the genetic underpinnings are diverse, advances in next generation sequencing have transformed diagnostic paradigms. ![]() Paediatric motor neuron diseases encompass a group of neurodegenerative diseases characterised by the onset of muscle weakness and atrophy before the age of 18 years, attributable to motor neuron loss across various neuronal networks in the brain and spinal cord. ![]()
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