Svalová dystrofie

26.4.2012 , Vladislava Králová

svalova-dystrofie.jpg - kopie
svalova-dystrofie.jpg - kopie
Svalová dystrofie se projevuje postupující svalovou bolestí a zmenšováním svalové hmoty. Svalová dystrofie vzniká nesprávnou tvorbou proteinu dystrofinu, který je pro správnou funkci svalu nezbytný. Svalová dystrofie je geneticky podmíněné onemocnění, které má nejčastěji dvě formy – Duchennoevu svalovou dystrofii a Beckerovu svalovou dystrofii.

Svalová dystrofie

Jako svalová dystrofie je označována celá skupina onemocnění, která se projevuje postupující svalovou slabostí a zmenšením svalové hmoty. Tato onemocnění jsou geneticky podmíněná. Dnes se jednotlivé typy svalových dystrofií určují na základě genetiky, kdy je diagnostikována specifická mutace. Dvě nejčastější jednotky jsou Duchennoeova svalová dystrofie a Beckerova svalová dystrofie. U obou těchto jednotek je podstata onemocnění vázaná na dystrofin. Jedná se o protein přítomný v cytoskeletu svalové buňky, který váže další proteiny a podílí se na určování koncentrace vápníkových iontů ve svalové buňce. Gen pro tento protein je jeden z největších známých genů a nachází se na X-chromozomu.

Duchennoeova svalová dystofie

Duchennoeova svalová dystofie je nejčastějším typem svalové dystrofie, představuje však i formu nejzávažnější. Vyskytuje se s četností 1:3500 narozených chlapců. Ženy jsou pouze přenašečky, které nemají žádné nebo jen minimální potíže. V důsledku mutace genu pro dystrofin dochází k úplnému chybění tohoto proteinu. Dodnes se jedná o smrtelné onemocnění, které neumíme léčit. Chlapci se rodí zdraví, někdy lze sledovat opožděný psychomotorický vývoj. Příznaky se vyvinou nejpozději mezi 3.–5. rokem. Dochází k postupnému nárůstu svalové slabosti, která postihuje nejdříve dolní končetiny a pánevní svaly, později jsou postiženy svaly horních končetin, krku a dechové svaly. Mezi první příznaky řadíme kolébavou chůzi, nemocní se nemohou zvednout ze dřepu bez pomoci horních končetin, velké problémy jim činí chůze do schodů. Zpravidla kolem desátého roku nejsou již schopni chůze a jsou upoutáni na invalidní vozík. Dochází ke zkracování svalových skupin a jejich vazivové přeměně, která vede k vadnému držení těla. Páteř je postižena skoliózou. Jsou častější záněty dýchacích cest. Postižena je i srdeční svalovina. Srdeční oddíly jsou výrazně rozšířené. Takto postižené srdce je náchylnější ke vzniku sraženin a jejich následných vmetení do krevního oběhu a ke vzniku poruch srdečního rytmu. Ke smrti dochází zpravidla kolem třicátého roku. Příčinou je buď postižení dýchacích svalů, které vede k dechovému selhání, nebo poruchy rytmu, které vedou k srdečnímu selhání.

Beckerova svalová dystrofie

Beckerova svalová dystrofie by se dala popsat jako mírnější forma Duchennoeovy formy. Dystrofin je zde tvořený, ale mutace vede k jeho pozměnění. Projevy mohou být různě závažné. Nejmírnější forma je představována svalovými bolestmi a křečemi. V nejtěžší podobě se průběh od Duchennoeovy formy příliš neliší. Nejčastěji ale dochází k symetrickému postižení svaloviny končetin. Objem svaloviny je snížen, vyskytuje se svalová slabost. Projevy se vyskytují nejdříve v pěti letech, nejčastěji pak kolem dvanácti let.

Svalová dystrofie a její léčba

Léčba těchto chorob nemůže být zaměřena proti příčině, léčíme pouze příznaky. Pro zpomalení projevů nemoci jsou podávány léky ze skupiny imunosupresiv. Jelikož mají tyto léky řadu nežádoucích účinků, je nutné zvážit, jestli je jejich přínos vyšší než škody. Důležitá je důsledná rehabilitace jako prevence rozvoje zkrácení svalů. Používají se také pomůcky pro podporu chůze a ortézy. V pokročilejších fázích onemocnění je používána neinvazivní podpora dýchání, zpočátku pouze v noci. Nemocný pak spí s dechovou maskou, která je propojena s dýchacím přístrojem. Lékař musí vždy pátrat po známkách zánětu dýchacích cest a především je útočně léčit. Prevence tohoto onemocnění není možná. Důležité ze strany pacienta je dodržovat rehabilitační cvičení a předcházet onemocněním dýchacích cest.

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It's an oldie but a goody. When you snore loudly more profoundly if you are lying lying on your back, set a ball, or another sizeable item in the back of your t-tee shirt while sleeping. Using this method if you make an attempt to roll lying on your back within your sleep, this tiny uncomfortable reminder will quickly having you again in your favor.
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Steer clear of whatever will make your apnea a whole lot worse, specifically great altitudes. Sleeping in a substantial altitude ie. aeroplanes can certainly make the signs or symptoms worse as the losing of oxygen increases. When you have to journey, be sure you speak with your medical doctor about ways to ease your symptoms of apnea.
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To make more money, you should create a buying and selling schedule. For each and every scenario, you need to have a response that secures your purchases. If one of the common response does not function in a selected scenario, analyze why and make up a new reaction just for this specific scenario. It is best to act inside a consistent way.
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If you use a CPAP (ongoing optimistic respiratory tract strain)system for the obstructive sleep apnea, be sure to know how to input it on properly. Ensure that the bands are tightened perfect and make certain the unit is securing over your atmosphere passageways. The device's suit is essential to the functioning.
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If at all possible, try and just go go to vino land one or more times each year. There really is no replacement for going to a vineyard and enjoying a window of red wine within its natural factor. You'd be amazed exactly how much far better the red wine will style and it will also let you find out how the wines is produced.
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Finding out how to handle your insurance requires is very important. Getting quality insurance policy will guarantee that when the unforeseen occurs you will end up protected. There are many different kinds of insurance coverage available and many methods to deal with your insurance policy requirements. Right here we've complied some ideas to help you.
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26. března 2019 0:46

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