REVISTA DE EDUCATIE MEDICALA CONTINUA DEDICATA GINECOLOGILOR,
OBSTETRICENILOR, MOASELOR SI ASISTENTILOR MEDICALI DIN ROMANIA

<- Home <- Arhive <- Anul 3, Nr. 10, December_Supplement_2_ 2015



RevistaGinecologia3(10)33-37(2015)
© VERSA PULS MEDIA, S.R.L.


New perspectives in Duchenne muscular dystrophy

V. Rădoi, L. Bohîlțea, R. Bohîlțea, M. Cîrstoiu


Rezumat: Duchenne muscular dystrophy (DMD) is the most common muscle disease of childhood. One in every 3,500 newborn boys has Duchenne muscular dystrophy. Very rarely, it also affects girls (approximately 1 in 50 million girls). It occurs across all races and cultures. Symptoms of DMD usually appear between ages of two and five years old and may include difficulty in running, jumping, climbing and rising from the floor, frequent falls, enlarged calf muscles, toe walking and delays in language development. The first muscles affected are those around the hips and upper thigh. Weakness gradually progresses to include all the muscles used for movement (skeletal muscles), the muscles used for breathing and the heart. Duchenne is typically diagnosed in boys between the ages of 3 and 7. Although there is currently no cure for Duchenne muscular dystrophy, there is a lot that can be done to manage the symptoms and to considerable improve the quality and length of life. A variety of different medical professionals will be needed to be called on at different times to manage the many different aspects of the disease. Care will be led and organized by a neurologist who is a specialist in Duchenne muscular dystrophy. Many researchers are actively pursuing several new strategies in DMD, such as gene therapy and exon skipping, gene repair. Human clinical trials are under way for some of these strategies.
Cuvinte cheie: muscular dystrophy, prenatal diagnosis, gene therapy.

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