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Abstract
Wilson's disease is a rare pathology, characterised by the uncontrolled accumulation of copper in the body predominantly affecting organs such as liver, brain, eyes. Multiorgan damage leads to a rapid deterioration of body functions, with major psychological and neurological impact. Therapeutic approaches are hampered by the low prevalence of the disease and by the impossibility of organising studies based on samples of subjects. For this reason, we set out to perform an experiment with a single patient diagnosed with Wilson's disease, in which we aim to highlight the effectiveness of psychotherapeutic interventions in mitigating the impact of the disease at the systemic level. Specifically, we want to analyse how the cognitive-behavioural therapy associated with relaxation techniques leads to the improvement of affective and motor symptoms, compared to thought suppressing techniques and techniques that involve the voluntary blocking of undesirable behaviour. The results indicate a significant improvement in behaviour and mood in the patient diagnosed with Wilson's disease following the use of cognitive restructuring techniques associated with muscle relaxation procedures.
Keywords: Wilson's disease; cognitive-behavioural therapy; muscle relaxation
Introduction
NORD (National Organization for Rare Disorders) defines Wilson's disease as a rare, autosomal recessive genetic disease (Gao, Brackley, & Mann, 2019), characterised by excessive accumulation of copper in various tissues of the body, such as: liver, brain, cornea (Brewer & Askari, 2005). The disease occurs when each of the two parents transmits an abnormal gene responsible for the same trait. When a single gene is involved, the patient is only a carrier, without showing symptoms of the disease. Responsible for this disease is the ATP7B gene, on chromosome 13. The mutation identified in this gene prevents the ATPaza2 to function properly, therefore distorting the process of excreting copper from the liver into the bile to be eliminated from the body through the intestinal tract (Collins et al., 2021). It is a progressive disease, with highly lethal potential by major impairment of organ function in which copper is accumulated in excess (Schilsky, 2017).
Liver damage begins around the age of six and is progressive, so the first symptoms appear in middle or actual adolescence, around the age of 20. Liver damage is signalled by the skin, mucous membranes and scleral jaundice, oedema in the lower limbs and...