EXPERT CENTRE FOR HEREDITARY NEUROLOGIC AND METABOLIC DISORDERS

The Expert Center for Hereditary Neurologic and Metabolic Disorders at University Hospital “Alexandrovska” was approved by the Bulgarian Ministry of Health in February 2016. The Clinic of Neurology, where the expert center is located, has a big experience in the diagnosis, treatment, rehabilitation and follow up of patients with Duchenne/Becker progressive muscular dystrophies, LGMD, GNE myopathy, FSHD, EDMD, SMA, CMT and TTR-FAP. A multidisciplinary team of specialists, encompassing neurologists, child neurologists, cardiologists, gastroenterologists, pulmonologists, endocrinologists, pathologists, physiotherapists, anestesiologists and geneticists, is working with the aim to provide the patients with timely diagnosis, treatment and care. The Bulgarian Neuromuscular Disorder Society, based in the Clinic of Neurology has become member of TREAT-NMD in February 2008, thus developping and maintai ning the Bulgarian registries of patients with DMD/BMD, SMA and myotonic dystrophies and providing the affected with the best standarts of care. Registries for CMT and TTR-FAP are in process of preparation. The research achievements of the team, working in the centre, on neuromuscular disorders in Gypsies (HMSNL, CCFDN, CMS, LGMD2C) served as a basis for developing pilot community-based carrier testing programs, which have been implemented as part of the National Program for the Prevention of Genetic Disorders, coordinated by the Ministry of Health of Bulgaria.