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 is a major cause of functional disability in patients with PMM2-CDG. However, no specific gait assessment for PMM2-CDG is available. This study analyses gait-related parameters in PMM2-CDG patients using a standardized clinical assessment and instrumented gait analysis (IGA).

Results

Seven adult patients with a molecular diagnosis of PMM2-CDG were followed-up from February 2021 to December 2022 and compared to a group of healthy control (HC) subjects, matched for age and sex. Standardized

SUBMITTER: Cirnigliaro L 

PROVIDER: S-EPMC10837865 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature