Author/Editor		Zidar, Janez
Title		Functions of a neuromuscular centre
Translated title		Naloge centra za živčnomišične bolezni
Type		članek
Source		Zdrav Vestn
Vol. and No.		Letnik 53, št. Suppl 2
Publication year		2004
Volume		str. II-51-4
Language		eng
Abstract		Main functions of a neuromuscular (NM) centre are making diagnosis, treatment and counselling. Some other functions, e. g. forming a register aud epidemiological endeavours, could be added. All these activities are expected to be achieved by multidisciplinary approach with the idea that members use the same guidelines and share the same knowledge. NM diseases affect lower levels of the nervous system that is motor units (motor cells in the brainstem and spinal cord, nerve roots, cranial and peripheral nerves, neuromuscular junction, and muscles). There are many such diseases; a few are more common others are rare. Rational approach in making a diagnosis can be divided into several steps. The process begins with a person with clinical symptoms and signs which raise the suspicion of NM disease. The first step is the description of the predominant pattern of muscular wasting and weakness (e. g. limb girdle, distal, ocular, facio-scapulo-humeral). Each of these syndromes require a differential diagnosis within the motor unit territory what is achieved by means of EMG and muscle biopsy. The latter is even more important to define the nature of the abnormality. Disease nature can also be determined biochemically and, as NM disorders are commonly genetically determined, at the molecular genetic level. Treatment modalities include drugs (causative and symptomatic) and other measures such as promoting and maintaining good general health, preventing skeletal deformities, physiotherapy, orthoses, surgery, and prevention of respiratory and cardiac functions. Counselling is mainly by social workers that focus on the practical aspects of coping with illness and disability and by genetic counsellors who gave advise on family planning.
Summary		Glavne naloge centra za živčnomišične bolezni so diagnosticiranje, zdravljenje in svetovanje. Med ostalimi pomembnimi nalogami lahko omenimo vodenje registra in epidemiološke študije. Vse omenjene aktivnosti so plod multidisciplinarnega dela. Ideja takšnega dela je, da člani timov na osnovi skupaj pridobljenega znanja uporabljajo ista načela dela. Živčnomišične bolezni prizadenejo nižje nivoje živčevja, točneje motorično enoto. Le-ta obsega motorične živčne celice možganskega debla in hrbtenjače, živčne korenine, možganske in periferne živce, živčnomišični stik in mišice. Med številnimi različnimi živčnomišičnimi boleznimi so le redke pogostejše, večino od njih pa srečamo poredko ali celo izjemno redko. Postavitev specifične diagnoze ima, kljub temu da za večino teh bolezni ni vzročnega zdravljenja, prognostični pomen in je osnova za genetsko svetovanje. Proces diagnosticiranja lahko smotrno razdelimo v več zaporednih faz. Začetek je vedno vezan na bolnika s simptomi in znaki, sumljivimi za živčnomišično bolezen. Najprej je v diagnostičnem postopku potrebno definirati vzorec mišičnih atrofij in šibkosti. Vsak od vzorcev (npr. proksimalna ali distalna prizadetost udov, očesna prizadetost, facioskapulohumeralna prizadetost) zahteva premislek glede lokacije okvare v motorični enoti. Pri tem se opremo na elektromiografske in morfološke (mišična biopsija) laboratorijske preiskave. Ugotoviti je potrebno tudi morebitno prizadetost drugih organov (npr. siva mrena pri miotonični distrofiji, prizadetost očesne mrežnice pri mitohondrijskih boleznih). Morfološke preiskave pa so pomembnejše za ugotovitev vzroka bolezni. Vzrok je definiran na morfološkem, biokemičnem ali, ker gre pogosto za podedovane bolezni, na molekularnogenetskem nivoju. Zelo pogosto so živčnomišične bolezni gensko pogojene. To pomeni, da so njihov vzrok spremembe v genih, ki jih imenujemo mutacije. (Izvleček skrajšan pri 2000 znakih).
Descriptors		NEUROMUSCULAR DISEASES