A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG).

Natalia Lourdes SerranoVictor De DiegoDaniel CuadrasAntonio F Martinez MonsenyRamón Velázquez-FraguaLaura LópezAna FelipeLuis G Gutiérrez-SolanaAlfons MacayaBelén Pérez-DueñasMercedes Serranonull null

Published in: Orphanet journal of rare diseases (2017)

Our study shows a stabilization or mild improvement in the cerebellar functions of paediatric PMM2-CDG patients despite cerebellar volume loss. ICARS is a valid scale to quantify the evolution of cerebellar syndrome in PMM2-CDG patients. The availability of ICARS and other reliable and sensitive follow-up tools may prove essential for the evaluation of potential therapies.

Keyphrases

end stage renal disease
ejection fraction
chronic kidney disease
peritoneal dialysis
prognostic factors
intensive care unit