Ricerc@Sapienza

Rare diseases are often characterized as diseases with low prevalence in population that stem from genetic disorders or environment conditions. As a result of its low prevalence and lack of knowledge of its causes, symptoms, and/or treatment, patients’ access to healthcare, and their quality of life may be affected. A key challenge is also the physician-patient interaction that differs from traditional medical care settings by demanding physicians’ experience in dealing, for example, with psychological problems associated with the diagnosis process.

Aromatic-L-amino acid decarboxylase (AADC) deficiency is an ultra-rare inherited autosomal recessive disorder characterized by sharply reduced synthesis of dopamine as well as other neurotransmitters. Symptoms, including hypotonia and movement disorders (especially oculogyric crisis and dystonia) as well as autonomic dysfunction and behavioral disorders, vary extensively and typically emerge in the first months of life.