Diagnosis of and care for people with rare diseases are a challenge. Most rare diseases are inherited with clinical presentation in early childhood, complex with involvement of several organ systems and progressive with ever changing phenotype. Physical and neurological disability makes many families dependent on social security. In Denmark and in a few other EU countries, centres of reference for the care of people with rare diseases have been established. The impression is that the effect of establishing such centres for these rare diseases in Denmark has been good and that it remains the most rational way of treatment.

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