Fahr’s disease is a rare idiopathic degenerative disease characterized by calcifications in the brain, and has also been associated with balance impairment. However, a detailed analysis of balance in these patients has not been performed. A 69-year-old woman with Fahr’s disease presented with a long-lasting subjective imbalance. Balance was analyzed using both clinical and instrumented tests. The patient’s balance was normal during clinical tests and walking. However, during standing, a striking impairment in vestibular control of balance emerged. The balance behavior (...) displayed mixed parkinsonian and cerebellar features, with a discrepancy between the high severity of the static and the low severity of the dynamic balance impairment. The balance impairment characteristics outlined in this study could help neurologists and physiatrists detect, stage, and treat this rare condition. (shrink)

Falls are frequent in Myotonic Dystrophy type 1, but the pathophysiology of the balance impairment needs further exploration in this disease. The current work aims to provide a richer understanding of DM1 imbalance. Standing balance in 16 patients and 40 controls was tested in two posturographic tests. In the Sensory Organization Test, standstill balance was challenged by combining visual and environmental conditions. In the “react” test, reflexes induced by sudden shifts in the support base were studied. Oscillations of the body (...) centre of mass were measured. In the SOT, COM sway was larger in patients than controls in any condition, including firm support with eyes open. On sway-tuned support, COM oscillations when standing with closed eyes were larger in patients than controls even after taking into account the oscillations with eyes open. In the “react” paradigm, balance reflexes were delayed in patients. Results in both experimental paradigms are consistent with leg muscle weakness. This, however, is not a sufficient explanation. The SOT test highlighted that patients rely on vision more than controls to maintain static balance. Consistently enough, evidence is provided that an impairment of proprioceptive and vestibular systems contributes to falls in DM1. Rehabilitation programs targeted at reweighting sensory systems may be designed to improve safe mobility in DM1. (shrink)