Peter Špalek
Exceptional discoveries in pathogenesis, major developments in diagnostics and treatment have changed very favourably the prognosis of patients with many autoimmune and genetically determinated neuromuscular diseases. Early ascertainment of correct diagnosis requires interdisciplinary cooperation, precise processing and interpretation of clinical data and findings, interpretation of basic laboratory investigations, specialised biochemical, enzymological investigations, electrophysiological studies, muscle biopsy results, molecular genetic studies and neuroimmunological investigations results. Many autoimmune neuromuscular diseases (autoimmune neuropathies, different myasthenia gravis forms, Lambert-Eaton myasthenic syndrome, acquired neuromytonia, autoimmune myositis) are very effectively treated and even fully curable thank to modern immunotherapy methods (immunosuppressive therapy, thymectomy, plasmapheresis, intravenous immunoglobulin, monoclonal antibodies). In some hereditary neuromuscular diseases with, recently, very poor prognosis major treatment developments have been achieved, too. In a myopathy of Pompe disease through enzyme replacement a functional strength improvement in muscles is achievable. In Fabry disease enzyme replacement therapy has a favourable effect on neuropathy. Familial amyloid polyneuropathy used to be known as a rapid progressive and fatal disease. Since 2011 tafamidis is a novel specific stabiliser of transthyretin and prevents amyloid formations in peripheral nerves. The number of neuromuscular disease is high (> 900), but individual diseases are rare, which means that great emphasis must be placed on early and correct diagnosis and consequent optimal therapy. The Centre for Neuromuscular Diseases in Slovakia constituted in 1995 provides diagnostics, treatment and follow-up of patients with neuromuscular diseases. This requires also a diagnostic cooperation with several specialised foreign centres and participation in some international activities and projects.