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Stwardnienie zanikowe boczne

Stwardnienie zanikowe boczne

Stwardnienie zanikowe boczne jest nieuleczalną chorobą układu nerwowego, której postęp prowadzi m.in. do nieodwracalnych zmian w komórkach rdzenia kręgowego i rdzenia przedłużonego. Pierwsze objawy mogą pojawić się zarówno u ludzi młodych, jak i u osób w wieku podeszłym. Przyczyną schorzenia mogą być czynniki genetyczne – mutacja genu w chromosomie 21; dzieję się tak w ok. 20% przypadków.

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WAŻNE: W przypadku podejrzenia stwardnienia zanikowego bocznego, w pierwszej kolejności wskazana jest konsultacja genetyczna. Lekarz genetyk po dokładnym obejrzeniu pacjenta oraz wywiadzie rodzinnym zleci wykonanie badań. Zlecanie badań genetycznych na własną rękę często nie przynosi oczekiwanego rezultatu.

Inne nazwy: choroba Charcota, choroba Lou Gehriga, choroba neuronu ruchowego, ang. Amyotrophic Lateral Sclerosis, ALS.

Głównymi objawami choroby są:

Spis treści

zaniki mięśniowe
niedowład kończyn
pogorszenie motoryki (sprawności ruchowej)
paraliż mięśni
mogą wystąpić zaburzenia mowy i połykania

Diagnostyka:

Badanie WES – analiza wszystkich genów
rozpoznanie kliniczne na podstawie kryteriów określonych przez World Federation of Neurology (badanie EMG),
badanie neuropatologiczne,
badanie neuroobrazowe, wywiad
badanie genetyczne – umożliwia wykrycie mutacji, jeśli ta jest przyczyną choroby

Leczenie:

Brak skutecznej metody leczenia przyczynowego. Obecnie stosuje się jedynie leczenie objawowe, która pozwala wydłużyć i poprawić jakość życia chorego.

Zobacz też:

Chętnie doradzimy

Jeśli chcą Państwo uzyskać więcej informacji na temat samego badania lub mają inne pytania, zapraszamy do kontaktu z nami:

Telefonicznie

Pod bezpłatnym numerem: 800 007 771 lub 32 445 34 36

E-mailowo

pod adresem e-mail: biuro@testdna.pl (od poniedziałku do piątku 8.00 do 17.00).

Zapraszamy także do zadawania pytań na czacie.

Spis treści

Czas ma znaczenie!

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