Vol. 30-31/2021-2022 Nr 60
okładka czasopisma Child Neurology
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Journal Info

CHILD NEUROLOGY

Journal of the Polish Society of Child Neurologists

PL ISSN 1230-3690
e-ISSN 2451-1897
DOI 10.20966
Semiannual


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Dystrofia twarzowo-łopatkowo-ramieniowa (FSHD) – aktualny stan wiedzy


Facio-scapulo-humeral dystrophy (FSHD) – the latest update




Klinika Neurologii WUM, Pododdział Neurologii Dziecięcej

https://doi.org/10.20966/chn.2016.50.367
Neurol Dziec 2016; 25, 50: 73-77
Full text PDF Dystrofia twarzowo-łopatkowo-ramieniowa (FSHD) – aktualny stan wiedzy



STRESZCZENIE
Dystrofia twarzowo-łopatkowo-ramieniowa (FSHD) to trzecia co do częstości występowania dystrofia mięśniowa, dziedziczona autosomalnie dominująco. Pierwsze objawy zazwyczaj manifestują się w drugiej dekadzie życia, a bardzo wczesny początek (u dzieci przed 10. rokiem życia) wiąże się z ciężkim przebiegiem choroby, szybszym postępem niesprawności oraz większym ryzykiem powikłań. Praca ma na celu przedstawienie najważniejszych zagadnień dotyczących FSHD z punktu widzenia praktyki klinicznej – objawów, diagnostyki oraz opcji terapeutycznych, z uwzględnieniem wyników najnowszych badań, aktualnego piśmiennictwa oraz wytycznych opublikowanych przez Amerykańskie Towarzystwo Neurologiczne w 2015 roku.

Słowa kluczowe: dystrofia twarzowo-łopatkowo-ramieniowa, niedosłuch, teleangiektazje siatkówkowe, niewydolność oddechowa, blok odnogi pęczka Hisa


ABSTRACT
Facio-scapulo-humeral dystrophy (FSHD) is a third most common muscular dystrophy of autosominal dominant pattern of inheritance. The onset of symptoms usually takes place in the second decade of life, whereas very early disease manifestation (in children below 10- year old) is linked to more severe clinical picture with quicker disability progression and higher risk of complications. This paper aims to present the most relevant issues in clinical practice concerning FSHD – symptoms, diagnostic process and therapeutic options, based on the latest publications, including evidence-based guidelines published by AAN in 2015.

Key words: facioscapulohumeral muscular dystrophy, hearing loss, retinal telangiectasis, respiratory insufficiency, bundlebranch block


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