Balance control impairments in Fabry disease

Area of Science:

• Neurology
• Genetics
• Physiology

Background:

• Fabry disease (FD) is a rare inherited lysosomal storage disorder due to alpha-galactosidase A deficiency.
• Glycosphingolipid accumulation in FD causes progressive multisystemic damage, including neurological, renal, and cardiac issues.
• FD can lead to neuro-otological and visual impairments, potentially affecting postural control.

Purpose of the Study:

• To evaluate the impact of Fabry disease on postural control.
• To assess how FD affects the sensory organization test (SOT) and its components.

Main Methods:

• A sensory organization test (SOT) was administered to 14 adult and 2 child patients with FD and 19 adult and 2 child healthy controls.
• The SOT assessed postural control under various visual and platform conditions to calculate a composite equilibrium score (CES).
• Somatosensory (R^SOM), visual (R^VIS), and vestibular (R^VEST) contributions to postural control were quantified.

Main Results:

• Adult patients with FD exhibited a significantly lower composite equilibrium score (CES) compared to healthy adults (p < 0.001).
• Patients with FD showed reduced visual (R^VIS, p = 0.001) and vestibular (R^VEST, p = 0.003) contributions to postural control.
• No significant difference in somatosensory (R^SOM) contribution was observed between FD patients and controls.

Conclusions:

• Inner ear and visual pathologies, alongside central nervous system impairments in FD, contribute to altered postural control.
• Physical activities may help mitigate postural control deficits by enhancing proprioception and reducing reliance on compromised sensory inputs.