Intractable Rare Dis Res. 2024;13(3):172-177. (DOI: 10.5582/irdr.2024.01019)

Functional impairments in NBIA patients: Preliminary results

Syczewska M, Stęplowska A, Szczerbik E, Kalinowska M, Cwyl M

Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group (genetically and phenotypically) of genetically determined disorders. Up to date there is no cure for this disease, so the applied treatments focus on symptoms control and palliative care. The main problems are delayed motor development, gait deterioration, postural instability, cognitive dysfunctions, abnormal muscle tone and many others. As gait and balance deficits are predominant features of NBIA patients this study aimed at the use of the objective, instrumented functional tests as well as functional assessment scales to assess their functional impairments. Twenty three NBIA patients recruited for the study underwent objective, instrumented gait analysis, balance assessment, pedobarography and functional evaluation with Gross Motor Function Measure (GMFM-88). The results showed high variability and heterogeneity of NBIA functional status (GMFM from 27.5 to 100.0), but also showed some differences in gait pattern between their types (p < 0.05 at the pelvis, hip and knee). We think that these results could help design objective assessment protocols in future clinical studies.

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