Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience.

Pilar Quijada-FraileElena Arranz CanalesElena Martín-HernándezMaría Juliana Ballesta-MartínezEncarna Guillén-NavarroGuillem Pintos-MorellMarc Moltó-AbadDavid Moreno-MartínezSalvador García MorilloJavier Blasco-AlonsoMaría Luz CouceRicardo Gil SánchezElisenda Cortès-SaladelafontMónica A López RodríguezMaría Teresa García-SilvaMontserrat Morales Conejo

Published in: Orphanet journal of rare diseases (2021)

The study provides real-world data on patients with MPS IVA. Limited mobility, difficulties with self-care, dependence, and pain were common, together with poor HRQoL. The severity and heterogeneity of clinical manifestations require the combined efforts of multidisciplinary teams.

Keyphrases

chronic pain
quality improvement
pain management
single cell
electronic health record
neuropathic pain
big data
machine learning
spinal cord injury