International Tuberous Sclerosis Day

International Tuberous Sclerosis Day
International Tuberous Sclerosis Day

The Tuberous Sclerosis or Tuberous Sclerosis Complex It is one of the rare and little-known incurable diseases. That is why the 15 th of May is celebrated on International Tuberous Sclerosis Dayto disseminate information about the importance of this rare genetic disorder that affects thousands of people around the world.

It is estimated that this pathology affects one in every 6,000 live births in the world, being considered the main genetic cause of epilepsy and autism. The medical studies carried out on this disease are of great relevance, in order to obtain effective treatment and early diagnosis in those people who suffer from it.

What is Tuberous Sclerosis?

The Tuberous Sclerosis or Tuberous Sclerosis Complex (TSC) It is a genetic disorder that generates the formation of non-cancerous or benign tumors in vital organs, such as: brain, eyes, kidneys, heart, lungs and skin.

Diagnosis of this disorder is made through a thorough physical examination, combined with imaging studies. It can be diagnosed during pregnancy, through a routine ultrasound, by detecting rhabdomyomas (it is a type of heart tumor), or after birth.

This disease presents the following symptoms, which may vary in each person, according to the location of the tumors and the severity of the disease. It affects men and women equally, belonging to any race and ethnic group:

  • Skin abnormalities: spots, thickened and smooth skin, reddish bumps under or around the nails, acne-like facial tumors.
  • Eye abnormalities: non-cancerous tumors, with appearances of white spots on the retina.
  • Seizures: due to tumors in the brain, associated with seizures.
  • Behavior problems: hyperactivity, aggression, social maladjustment, self-inflicted injuries.
  • Renal problems: growth of non-cancerous tumors in the kidneys.
  • Heart problems: appearance of tumors in the heart.
  • Lung problems: formation of benign lung tumors that can cause cough or shortness of breath.
  • Cognitive disabilities: associated with intellectual disabilities or learning difficulties.

There is a 50% chance of transmitting the disease to biological children. There is no cure for this disease, only treatments to reduce symptoms: medicines, occupational therapy, surgeries to treat specific complications.

Share information about this rare pathology on social networks, using hashtags #InternationalTuberousSclerosisDay #TSCglobalday #makingTSCmatter #becauseTSCmatters.

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