Muscular dystrophy registry

Muscular dystrophies are a large group of neuromuscular diseases. These hereditary diseases are characterized by heterogeneous genetic background, typical age of onset and variable disease course. Most of the known muscular dystrophies occur in Hungary, but we have no data on their exact frequency.

The primary purpose of the register is to collect and follow the patients belonging to the Neurology Department, University of Pécs, and then to extend it nationwide. Later it might be possible to compare it with international registers, as well.

Types of diseases to be included in the register by incidence: DM1 (Myotonic dystrophy type 1), FSHD (Facioscapulohumeral muscular dystrophy); LGMD (Limb-girdle muscular dystrophy) and other, less common types of dystrophies (e.g., OPMD - Oculopharyngeal muscular dystrophy, EDMD-Emery-Dreifuss muscular dystrophy, distal and myofibrillary myopathies).

The register can provide accurate epidemiological data on the occurrence of muscular dystrophy in Hungary; yearly regular follow-up let us to record the progression of the diseases. The patients’ condition is assessed with standardized tests (e.g. MRC scale, dynamometry, muscle MRI, NHPT, 6MWT) so it will be comparable to the registers of other countries. The majority of patients are subjected to laboratory testing and muscle biopsy, and their data and samples can later be used for scientific studies.

Intensive research is ongoing on the gene therapy of muscular dystrophies. The register provides the opportunity to include our patients to these investigations and to follow their therapy.