The centrality of cardiological and pneumological health
The Duchenne muscular dystrophy (DMD) is a rare genetic pathology that affects 1 male child per 5000 and is the most critical of the muscular dystrophies. It manifests itself due to mutations on the dystrophin gene, which don’t allow the production of the dystrophin protein, which is essential for proper muscle function. The Becker dystrophy (BMD) is a milder variant of the pathology, whose course, however, varies from one patient to another.
DMD and BMD cause a progressive degeneration of the body’s muscles, which lose their ability to function over time including respiratory muscles and the heart.
It’s exactly on this point that the Parent Project Association has observed in care centres, especially in the southern regions of Italy, a lack of staff skilled in the management of cardiac and respiratory problems, which are essential to be monitored with regular checks. That’s why the project we support “The centrality of cardiological and pneumological health” is born: a system of free specialist cardiological and respiratory examinations for DMD/BMD patients aged 16 and over living in Calabria and Basilicata carried out by local doctors trained and supported by clinicians with expertise in the disease, at the ACE - MEDICINA SOLIDALE centre in Reggio Calabria.
According to the results of the consultation, an intervention plan will be drawn up for each patient, which the families, with the support of the clinicians involved, will share with the relevant Clinical Centre following the patient in order to develop a comprehensive therapy.
Each child will also have an Emergency Card: a card that collects the patient's clinical data for monitoring and maintaining the medical history in emergency situations. There is currently no cure for these diseases, but with the multidisciplinary treatment and services offered by this project, it is possible to slow down the course of the disease and improve the life quality of these children.
Place: Calabria and Basilicata
Association: Parent Project Association
Beneficiaries: young people with Duchenne and Becker muscular dystroph
Contribution: up to €70.000,00
Duration: March 2023 - March 2024