Rare diseases

We will help you with the necessary studies to diagnose this type of disease that is difficult to diagnose and treat.

If you require an evaluation and constant monitoring, do not hesitate to contact us. We will put at your disposal a complete list of specialists who will be willing to help you no matter what type of disease you suffer from.

Within our services

Studies for the diagnosis of this specific type of disease are included. We also have professionals who can deal with any case and recommend the path to follow after the evaluation and analysis.

Rare diseases

It is classified as a rare disease, to all those whose prevalence is less than 5 cases per 10,000 people in the European Community. Most cases appear in the pediatric age, given the high frequency of diseases of genetic origin and congenital anomalies.

Among the minority diseases that you can treat with us are:

Fabry disease

Fabry disease is an X-linked hereditary lysosomal storage disease resulting from mutations in the gene encoding the enzyme α-galactosidase. It was described by Johannes Fabry and William Anderson in 1898. It is included within the lipidosis or lipid storage diseases.

Gaucher disease

Gaucher disease is a rare inherited disease in which a person does not have enough of an enzyme called glucocerebrosidase. This causes a buildup of fatty substances in the spleen, liver, lungs, bones, and sometimes the brain.

Tourette's Syndrome

Gilles de la Tourette syndrome is a disorder characterized by repetitive movements or unwanted sounds (tics) that cannot be easily controlled. For example, the affected person may repeatedly blink their eyes, shrug their shoulders, or make strange sounds or offensive words.