As part of marking the Muscular Dystrophy Awareness Month, an expert meeting was held where pediatricians from our hospital lectured on the basic principles of diagnosis, follow-up and standards of care for these patients, indicating the need for cardiology follow-up and timely therapy. Respiratory function and the necessary respiratory support of non-invasive and invasive mechanical ventilation in patients with congenital muscular dystrophy were also addressed.

Muscle dystrophies are genetically conditioned chronic progressive degenerative diseases. They are diagnosed in childhood when the first symptoms occur, and are monitored and treated multidisciplinarily by a number of specialties considering the multiple organ and system involvement. About 100 patients in the country suffer from these rare diseases. The clinical course of the diseases requires primarily continuous monitoring of the motor function, the respiratory function, and the cardiovascular system status, and requires further evaluation of the skeletal system, orthopedic, physiotherapeutic, endocrinological, ophthalmological, and other evaluations. Due to the nature of the illness, patients need continuous physical and occupational therapy, orthopedic aids, special adaptation and support in the school environment, as well as support and assistance by others. In addition to the medical treatment, this kind of diseases requires involvement of the social community in improving the daily activities, lifestyle and quality of life for these patients. It is our hope that with the series of activities carried out by Acibadem Sistina Hospital in September – the Muscular Dystrophy Awareness Month – we contribute to raising the community’s awareness on this group of diseases.