Research on molecular-genetic, pathohistological and biochemical characteristics of neuromuscular disorders

Neuromuscular disorders are a heterogeneous group of diseases that include disorders of muscles, neuromuscular junction, peripheral nerves and motor neurons. This research will be primarily focused on myopathies (myotonic dystrophies, limb-girdle muscular dystrophies, dystrophinopathies, mitochondrial and congenital myopathy), disorders of neuromuscular junction (myasthenia gravis), peripheral nerves, as well as motor neuron disease. Within this project, the following researches will be conducted: 1) defining clinical characteristics of neuromuscular disorders, 2) establishing registers, 3) determining the molecular genetic basis, 4) testing of pathohistological and immunohistochemical characteristics of neuromuscular disorders, 5) understanding the biochemical mechanisms in the pathophysiology of amyotrophic lateral sclerosis, 6) assessing multisystemic affections in neuromuscular disorders. The expected results of the project would include the following: 1) molecular-genetic diagnosis of myotonic dystrophies, dystrophinopathies, limb-girdle muscular dystrophies, bulbar and spinal muscular atrophy and hereditary neuropathy, 2) pathohistological and immunohistochemical definition of acquired and hereditary myopathies and polyneuropathies, 3) determining the importance of oxidative stress in ALS, as well as 4) determining the presence and importance of multisystemic affections in neuromuscular disorders with the assessment of quality of life in these patients.