Highlights
- •We quantified the balance dysfunction of a patient with Cerebrotendinous xanthomatosis.
- •Achilles tendon pathology might affect ankle strategy during up right stance
- •A specific deficit in the antero-posterior direction might cause a deficient ankle strategy.
- •Posturography might allow a precision and targeted rehabilitation project in rare diseases.
Abstract
Background
Cerebrotendinous xanthomatosis is a rare autosomal-recessive lipid storage disorder
causing an elevation in cholestanol and cholesterol levels and their deposition in
the central nervous system and tendons with consequent posture and gait disturbances.
Methods
This report shows the case of a 36-year-old male affected by Cerebrotendinous xanthomatosis
with static and dynamic instability. We aimed to provide an instrumented quantification
of quiet upright standing using a piezoelectric force platform measuring the variations
of center of pressure with the foot position 10 cm and 20 cm apart or extra-rotated
with an opening angle of 30°, with eyes open or closed. The area of center of pressure
and the length of its trajectory in the anterior-posterior and medial-lateral directions
were computed. The temporal variability of center of pressure was evaluated by means
of the Root Mean Square.
Findings
In comparison with a control group, the area, the trajectory length of center of pressure
in anterior-posterior and medial-lateral directions and the temporal variability increased
in all static conditions. Intra-patient comparison showed that foot position 10 cm
apart was the position that most influenced stability causing a marked worsening of
area and trajectory length of center of pressure in both anterior-posterior and medial-lateral
directions, particularly for the eyes closed condition.
Interpretation
We found a large static instability due to internal neural and biomechanical constraints
causing an insufficiency of ankle strategy. A physical therapy program based on instrumented
proprioceptive exercises is to be implemented to teach the use of a hip strategy.
Keywords
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Article info
Publication history
Published online: January 21, 2023
Accepted:
January 19,
2023
Received:
October 5,
2022
Identification
Copyright
© 2023 Elsevier Ltd. All rights reserved.
