Luigi Tesio

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.

In the last decades it has become clear that medicine must find some way to combine its scientific and humanistic sides. In other words, an adequate notion of medicine requires an integrative position that mediates between the analytic-reductionist and the normative-holistic tendencies we find therein. This is especially important as these different styles of reasoning separate “illness” (something perceived and managed by the whole individual in concert with their environment) and “disease” (a “mechanical failure” of a biological element within the body). While the demand for an integrative view has typically been motivated by ethical concerns, we claim that it is also motivated, perhaps even more fundamentally, by epistemological and methodological reasons. Evidence-based bio-medicine employs experimental and statistical techniques which eliminate important differences in the ways that conscious humans evaluate, live with, and react to disease and illness. However, it is precisely these experiences that underpin the concepts and norms of bio-medicine. Humanistic disciplines, on the other hand, have the resources to investigate these experiences in an intersubjectively testable way. Medicine, therefore, cannot afford to ignore its nature as a human science; it must be concerned not only with disease and illness, but also with the ways in which patients as persons respond to malady. Insofar as attitudes and expectations influence the criteria of illness and disease, they must be studied as part of the genuine subject matter of medicine as a human science. In general, we urge that this is a necessary step to overcome today's trend to split evidence-based and clinical medicine.

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.