Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis

Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis

Abstract Background Congenital disorders of glycosylation (CDG) are genetic diseases caused by impaired synthesis of glycan moieties linked to glycoconjugates. Phosphomannomutase 2 deficiency (PMM2-CDG), the most frequent CDG, is characterized by prominent neurological involvement. Gait disturbance...

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Bibliographic Details
Main Authors: Lara Cirnigliaro, Fabio Pettinato, Maria Stella Valle, Antonino Casabona, Agata Fiumara, Michele Vecchio, Valerio Amico, Renata Rizzo, Jaak Jaeken, Rita Barone, Matteo Cioni
Format: Article
Language:English
Published: BMC 2024-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
PMM2-CDG
Ataxia
Gait
Instrumented gait analysis
Online Access:https://doi.org/10.1186/s13023-024-03027-x

Internet

https://doi.org/10.1186/s13023-024-03027-x

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