It is said that one out of 50,000 to 70,000 people are born with ATR-X Syndrome, and there are approximately 10 new cases diagnosed per year in Japan. The total number of people with ATR-X Syndrome in Japan is about 100, and it has also been dianosed in other countries such as the U.K. and the Netherlands.
Blog by Japanese patient's family:
Website of patient group in different countries:
Italy: https://www.atrx-italia.org/it/
Netherlands:http://www.atrxsyndroom.nl/
England: http://internationalatrx.com/?fbclid=IwAR12CPNk_KMwHGEjSK-qzqPkZjV08qW9Rolg2JQaqFXZP2NwgKyoIiYzJrc
ATR-X (Alpha thalassemia-X-linked intellectual disability) Syndrome is caused by mutations in a gene called ATRX, an dit affects boys with various symptoms including intellectual disability and delays in physical activities. The severity of the symptoms differ, but for many cases, it is difficult for a person with ATR-X Syndrome to have verbal communication, and some other medical symptoms such as digestive problems and epileptic seizures also can occur.
There is currently no cure, but as you can find under "R&D", there is ongoing research to find treatment.
Other useful website
ATR-X syndrome network Japan: http://kcmc.jp/ATR-X/index.html
About ATR-X Syndrome
