Early diagnosis of orphan diseases discussed in Zainsk CDH
The Zainsk Central Regional Hospital hosted a round table for pediatricians, internists and specialized specialists on the topic: "how not to miss orphan disease in the daily practice of a doctor."
Aizatullina Dina Vadimovna is the Chief pediatric neurologist, neurologist of the Department of Pathology of Newborns and Premature Infants at the Republican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan.
An assistant at the Department of Neurology, Neurosurgery and Medical Genetics at KSMU, told colleagues how not to miss rare diseases at the reception using modern algorithms and free genetic testing programs.
The meeting was dedicated to Duchenne myodystrophy and tuberous sclerosis, conditions in which every day of delay in diagnosis can cost a patient their health.
Thanks to the round table, the emphasis was placed on the early symptoms of Duchenne myodystrophy and tuberous sclerosis.