Teknon organizes the Rett syndrome day II
-The frequency of disease is one in every 15,000 girls
-symptoms appear between six months and four years of life
Barcelona, February 2012.- Teknon Foundation organizes on Saturday 18 February the Rett syndrome day II, whose objective is the multidisciplinary approach and the dissemination of this pathology, catalogued as rare disease ”, for an early diagnosis and better treatment and care of girls who suffer from this disease and that will be of lifetime dependants. The seminar, organized jointly with the Associació Catalana of the Rett syndrome, has the Biomedical Research Institute collaboration of Bellvitge (IDIBELL).
The presentation ceremony will have the participation of the Minister of health, Hon. Mr. Boi Ruiz; Dr. Antoni Montserrat, policy officer for rare and neurodevelopmental diseases of the European Commission; and Dr. Josep Torrent-Farnell, director general of the Fundació Robert Doctor of the Universitat Autònoma de Barcelona and a member of the Committee for medicinal products EMEA (European Medicines Agency) orphans. The day will be retrasmitida by videostreaming, will also have the world’s leading experts in Rett syndrome disease such as Dr. Manel Esteller, leader of the research group in the Institut epigenetic d ’ Bellvitge biomedical research; and DRA. Mercè Pineda, child neurologist of Centro Médico Teknon.
Rett syndrome is a neurological disorder of genetic basis with this disorder mainly girls. The disease is not apparent at the time of the birth, the symptoms appear after an apparently normal development, between six months and four years of life and affects one in every 15,000 girls.
The evolution of the Rett syndrome, including age of onset and severity of symptoms, varies from girl to girl. However, before the symptoms begin, the girl seems to be growing and developing normally. Then, gradually, there are mental and physical symptoms. Hypotonia or loss of muscle tone is usually the first symptom. As the disease progresses, the girl loses the voluntary use of hands and speech. They may also experience scoliosis, epileptic attacks, problems breathing and digestive, among others. Given that its intellectual delay is seriously delayed, many girls are wrongly diagnosed as autistic or with cerebral palsy.
The DRA. Mercè Pineda, child neurologist of Centro Médico Teknon, warning about the importance of early diagnosis of the disease in order to apply treatments with early stimulation, avoiding forms that arise with the progression of the disease and therefore improving the quality of life of girls ”.
The diagnosis is based on compliance with the clinical diagnostic criteria, noting signs and symptoms during the initial growth and development of the girl child and carrying out periodic evaluations of its physical and neurological condition. Clinical diagnosis can be confirmed with the genetic study of mutations in the MECP2 gene.
