Free genetic screening for two rare, disabling neuromuscular diseases - Duchenne muscular dystrophy and aromatic L-amino acid decarboxylase deficiency, will be held in Burgas from May 29 to June 4 inclusive, between 09:00 and 10:00 in the laboratory of DKC 1. The campaign is organized by the Burgas Pediatric Association, the Municipality of Burgas and DKC 1 on the occasion of International Children's Day - June 1st.
Characteristic of these diseases is that their symptoms overlap with those of other known diseases such as some forms of epilepsy, Cerebral Palsy, developmental delay or changes in the neuromotor development of children. Establishing the correct diagnosis is a prerequisite for ensuring timely treatment.
Those wishing to take advantage of the free screening can register by phone at the reception of DKC 1: 056 810 571, every business day. DKC 1 also has a pediatric neurologist - Dr. Kalina Ishkieva.
Suitable for screening are children with three or more of the following symptoms: late walking and talking, motor development delay, muscle weakness, loss of motor skills, difficulty climbing stairs, frequent falling or clumsiness, waddling gait, muscle pain, decreased endurance, behavioral changes, decreased muscle tone, involuntary muscle contractions, epileptic seizures, diagnosis of "Cerebral Palsy" in the family, learning difficulties, speech and developmental delay, behavior resembling autism, sleep disturbances, episodes of hypoglycemia, unspecified diarrhea and constant stuffy nose up to 1 year of age.
Free genetic tests are provided for children with a minimum of 2-3 of the listed symptoms. The samples will be sent to Germany and the result will arrive within 2-3 weeks with the examining physician. If there is an inability to participate in the indicated period, but there are still such symptoms, there will be an opportunity for additional testing after an arrangement with a pediatric neurologist at DKC 1.
Коментари (0)
Трябва да влезете ...
Все още няма коментари.