Balance impairment in cerebrotendinous xanthomatosis: Ankle strategy deficit. A case study


      • 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.



      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.


      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.


      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.


      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.


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