What are the recommended screening protocols for spinal stenosis in adults with achondroplasia?

Recommended screening protocols for spinal stenosis in adults with achondroplasia involve regular clinical assessment focused on neurological symptoms such as pain, numbness, weakness, or changes in bladder and bowel function, given the high risk of spinal canal narrowing inherent to achondroplasia. Imaging, particularly MRI, is the preferred modality for evaluating spinal stenosis severity and progression, with screening intervals tailored to symptomatology and clinical findings rather than fixed schedules. While UK guidelines do not provide explicit adult-specific protocols for achondroplasia-related spinal stenosis, they emphasise the importance of early detection and multidisciplinary management of spinal complications in skeletal dysplasias NICE NG65. Recent expert consensus from European neuroradiology societies, although primarily focused on children, supports the use of MRI for detailed spinal assessment and suggests that similar vigilance should extend into adulthood due to ongoing risk of stenosis and neurological compromise Wright et al. 2023.

In practice, this means adults with achondroplasia should undergo baseline neurological evaluation and MRI if symptoms suggest spinal stenosis, with follow-up imaging guided by clinical progression. Proactive monitoring is critical because spinal stenosis in achondroplasia can lead to significant morbidity if untreated. The combined guidance underscores a patient-centred approach, integrating clinical signs with neuroradiological findings to determine the timing and frequency of screening, rather than routine imaging at fixed intervals NICE NG65; Wright et al. 2023.