Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?

Paulo Victor Sgobbi de SouzaWladimir Bocca Vieira de Rezende PintoIgor Braga FariasBruno de Mattos Lombardi BadiaIcaro França Navarro PintoGustavo Carvalho CostaCarolina Maria MarinAna Carolina Dos Santos JorgeEmília Correia SoutoPaulo de Lima SerranoRoberta Ismael Lacerda MachadoMarco Antônio Troccoli ChieiaEnrico BertiniAcary Souza Bulle Oliveira

Published in: Orphanet journal of rare diseases (2021)

This case series is the biggest data collection of the new recent clinical entity described as Spastic Tetraplegia and Axial Hypotonia (STAHP) due to SOD1 deficiency.

Keyphrases

cerebral palsy
amyotrophic lateral sclerosis
botulinum toxin
upper limb
multiple sclerosis
replacement therapy
electronic health record
big data
data analysis
artificial intelligence