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Start arrow Autosomalne recesywne arrow Rdzeniowy Zanik Mięśni

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Rdzeniowy Zanik Mięśni Utwórz PDF Drukuj Wyślij znajomemu

Krótko o SMA

Rdzeniowy Zanik Mięśni ( zwany też: Atrofią mięśniową; SMA ) to druga co do częstotliwości występowania w Polsce ( po mukowiscydozie ) choroba uwarunkowana genetycznie, dziedziczoną autosomalnie recesywnie. Wiadomo, że w Polsce nosicielem rdzeniowego zaniku mięśni jest co 40 osoba, a ryzyko ponownego wystąpienia choroby w rodzinie jest wysokie. Częstotliwość tego schorzenia to jeden przypadek na 15-20 tys. urodzeń. Choroba ta ma różny przebieg kliniczny - w ciężkiej postaci odpowiedzialna za zgon dziecka tuż po urodzeniu. Łagodna forma powoduje dużego stopnia niepełnosprawność ruchową przy intelekcie wyższym niż przeciętny
W Polsce nie ma rejestru chorych na SMA, podobnie jak i inne choroby nerwowo mięśniowe. W chwili obecnej jeszcze w większości nieuleczalne - są traktowane peryferyjnie przez lekarzy i rehabilitantów.
Na przedłużenie warunki życia chorych może w znaczący sposób wpłynąć odpowiednia opieka i stała rehabilitacja medyczna. Obecnie w Polsce rehabilitacja ta nie jest prowadzona przez powołane do tego instytucje państwowe

Próby leczenia rdzeniowego zaniku mięśni (SMA)
Szacuje się, że co roku na świecie rodzi się około 1000 dzieci chorych na rdzeniowy zanik mięśni. Mimo polepszającego się poziomu opieki zdrowotnej, coraz głębszej wiedzy na temat patomechanizmu choroby - wciąż około 50% tych dzieci umiera do 2 roku życia.
U pozostałych choroba powoli, ale nieuchronnie postępuje, powodując skrzywienia kręgosłupa, przykurcze, zaburzenia oddychania.

Rdzeniowy zanik mięśni typ I- postępowanie bezpośrednio po diagnozie
Rdzeniowy zanik mięśni typ I (choroba Werdniga - Hoffmanna - SMA I) rozpoznawany jest najczęściej w ciągu kilku pierwszych miesięcy życia dziecka. Proces chorobowy dotyczy neuronów rogów przednich rdzenia kręgowego. Brak impulsów nerwowych dochodzących do mięśni szkieletowych powoduje osłabienie napięcia i siły mięśniowej.

Wyniki badań wykazują, że kwas foliowy i witamina B12 mogą łagodzić przebieg SMA
24 maja 2001 - Naukowcy znaleźli dowody sugerujące, że przebieg atrofii rdzeniowo-mięśniowej (SMA) może być złagodzony przez podstawowe witaminy.
Wyniki uzyskane przez naukowców z Wydziału Medycznego Uniwersytetu Stanowego w Pensylwanii, które mają zostać opublikowane w czwartek w Mollecular Cell, sugerują, że kwas foliowy i witaminy z grupy B12 mogą złagodzić objawy u pacjentów z SMA. (...)
Choroba najzdolniejszych
O dziedzicznych chorobach prowadzących do zaniku mięśni wiemy niewiele. A przecież nie są one błahe, ani rzadkie. Prawdopodobieństwo spotkania się chorych genów, a tym samym wystąpienia choroby u dziecka, jest bardzo duże - nosicielem takiego genu jest co siedemdziesiąty człowiek.
Dlaczego więc tak mało mówi się o tych chorobach? - pytam prof. IrenęHausmanową - Petrusewicz, Kierownika Zespołu Badawczego Chorób Nerwowo - Mięśniowych Polskiej Akademii Nauk w Warszawie.
Chyba dlatego, że do niedawna były słabo poznane. Zbadanie ich przyczyn to jedno najnowszych osiągnięć genetyki molekularnej.. Dystrofię na przykład, po raz pierwszy opisano w połowie XIX wieku i przez przeszło sto lat medycyna nie poszerzyła swej wiedzy na jej temat. Podobnie było z rdzeniowym zanikiem mięśni. Już w podręcznikach dla studentów medycyny informacje o tych chorobach podawano drobnym drukiem, co sugerowało, że chodzi o materiał mniej ważny, o schorzenie, którego w praktyce przeciętny lekarz ani nie rozpozna, ani nie będzie w stanie leczyć. Dziś jest nadzieja, że to się zmieni. W latach osiemdziesiątych odkryto gen odpowiedzialny za dystrofię, a w 1992 r. za rdzeniowy zanik mięśni.
Jakie są następstwa tych chorób?
Dystrofia jest jedną z najcięższych. Dochodzi w niej do narastającego osłabienia mięśni. Bywa, że dotknięte nią dziecko nie może chodzić. Czasem atakuje również mięśnie oddechowe.
Szczególnie ciężką postacią tej choroby jest dystrofia Duchenne'a. W jej przypadku dziedziczenie jest związane z płcią: chorują tylko chłopcy, a przenoszą ją tylko kobiety. Według danych międzynarodowych dystrofia występuje u jednego dziecka na 3 tys. urodzonych chłopców, czyli aż u 30 na milion. Według moich badań w Polsce obserwuje się u 150 na milion.
Rdzeniowy zanik mięśni ujawnia się już w wieku niemowlęcym i może przebiegać bardzo ciężko. Często jednak choroba ma przebieg stosunkowo łagodny i chorzy żyją długo, choć dotknięci są trwałym kalectwem.
Czy rozwój tych chorób można zahamować?
Usiłujemy to robić, lecz obecne możliwości są ograniczone. Nasza pomoc polega przede wszystkim na zapewnieniu sprzętu ortopedycznego ułatwiającego chodzenie. Gdy dziecko korzysta z odpowiedniego sprzętu, postęp choroby jest wolniejszy. W dystrofii czasem przeprowadza się też operację, po której dziecku jest łatwiej prosto siedzieć. Duże znaczenie ma również uprawianie gimnastyki zapobiegającej przykurczom.
Czy dystrofię można wykryć w badaniach prenatalnych?
Tak, takie badania są wykonywane w kilku ośrodkach w Polsce - w Zakładzie Genetyki PAN w Poznaniu, Instytucie Psychiatrii i Neurologii w Warszawie, Instytucie Matki i Dziecka w Warszawie oraz klinikach medycznych w Łodzi i Gdańsku.
Kto powinien poddać się tym badaniom?
Przede wszystkim kobiety, które już urodziły dziecko z dystrofią a chcą mieć drugie zdrowe. Badania są zalecane także wówczas, gdy choroba wystąpiła u dalszych krewnych po stronie matki. Pewnym wskazaniem jest podwyższenie we krwi poziomu jednego z enzymów - kinazy kreatyny. Nie znaczy to jednak, że każda kobieta, która ma podwyższony poziom tego enzymu, jest nosicielką dystrofii. Jego poziom wzrasta również przy innych chorobach, zwłaszcza przy zawale serca. Oznaczenie poziomu kinazy kreatyny jest jednym z dość często wykonywanych biochemicznych badań krwi. Bywa, że kobieta trafia do szpitala z innych przyczyn, a przy okazji stwierdza, że w jej rodzinie może wystąpić nosicielstwo dystrofii.
Niektórzy specjaliści radzą, aby każda kobieta, która po 35 roku życia decyduje się na urodzenie dziecka, poddała się badaniom prenatalnym. Czy w takich badaniach zostanie wykryta również dystrofia?
W tym przypadku chodzi na ogół o badania, które umożliwiają wykrycie choroby Downa. Dystrofię pozwalają wykryć inne, wysoko specjalistyczne. Najogólniej rzecz biorąc sprawdza się strukturę genu odpowiedzialnego za chorobę. Najbardziej wiarygodne wyniki uzyskuje się wówczas, gdy daną mutację genu można porównać z genem innego chorego członka rodziny. Dzisiaj badania prenatalne pozwalają też wykryć rdzeniowy zanik mięśni.
Czy jakieś okoliczności mogą sprzyjać pojawieniu się tej choroby?
Szczególnie często występuje ona w krajach arabskich, ponieważ dość powszechnym zwyczajem jest tam zawieranie małżeństw w rodzinie. Niebezpieczeństwo wystąpienia rdzeniowego zaniku mięśni jest też zwiększone w małych miejscowościach, gdzie ludzie żyją od pokoleń i często nawet nie wiedzą, że są ze sobą spokrewnieni przez pra-pradziadków.
Dzieci dotknięte tą chorobą tym silniej ją przeżywają, że są wyjątkowo inteligentne. Bywa, że leżą gdzieś w zapadłej wsi, w odosobnieniu, a jednak potrafią doskonale czytać, zdobywają bogatą wiedzę. Zwykle matka mówi: "zachorowało moje najzdolniejsze dziecko".
I ta wysoka inteligencja jest związana z chorobą?
Od wielu lat staram się zgłębić ów problem, lecz dotąd mi się nie udało. Niektórzy twierdzą, że dzieci są po prostu oczytane, bo leżąc w łóżku, mają dużo czasu na lekturę. Nie zgadzam się z tą opinią. Dzieci cierpiące na inne choroby też bywają niekiedy przykute do łóżka, a jednak nie wyrastają tak wyraźnie intelektem ponad swe otoczenie.
Czy przerwanie ciąży ciągle pozostaje najskuteczniejszą metodą zwalczania dziedzicznych chorób mięśni?
W Stanach Zjednoczonych podjęto pierwsze próby leczenia dystrofii. Zaczęto np. przeszczepiać zdrowe włókna mięśniowe, ale dzięki tej metodzie poprawę udawało się osiągnąć na krótko. Poza tym dystrofia to przecież choroba całego organizmu, dotycząca wielu mięśni, a trudno do każdego wszczepić włókna. Zaczęto również podawać zdrowe geny do układu krążenia z nadzieją, że po dotarciu do mięśni podejmą produkcję dystrofiny. Są to jednak tylko eksperymenty. Ich wyniki stanowią jedynie podstawę teoretyczną do wdrożenia dalszych badań. Gdy dokładnie znane będą przyczyny choroby, jest wysoce prawdopodobne, że stanie się możliwe również jej leczenie.
Kiedy to nastąpi?
Chyba jeszcze nie prędko. Jednak genetyka molekularna rozwija się niezwykle dynamicznie. Jej odkrycia w ciągu 48 godzin mogą zrewolucjonizować leczenie. Pocieszające jest również to, że choroby dziedziczne nie są tak częste, jak można by się spodziewać. Każdy z nas ma jakiś chory gen, a jednak większość społeczeństwa to ludzie zdrowi. Przed tymi chorobami chroni nas zatem sama natura.
Dziękuję za rozmowę.
Rozmawiała: Ewa Terpiłowska
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