Ventilatory support in facioscapulohumeral muscular dystrophy

Wohlgemuth, M.; Kooi, E.L. van der; Kesteren, R. G. Van; Maarel, Silvère M. van der; Padberg, G.W.A.M.

doi:10.1212/01.wnl.0000133126.86377.e8

Cited by 110 publications

(87 citation statements)

References 10 publications

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“…Central nervous system defects may also occur, with learning difficulties and epilepsy evident in some severely affected children (Saito et al 2007). Other, less frequent clinical manifestations include respiratory insufficiency (Wohlgemuth et al 2004) and cardiac conduction defects which may occur in severely affected individuals (Laforêt et al 1998). The degree of disease severity in FSHD is associated with several factors.…”

Section: Clinical Presentationmentioning

confidence: 99%

Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?

et al. 2011

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Facioscapulohumeral muscular dystrophy (FS HD) is the third most common muscular dystrophy after the dystrophinopathies and myotonic dystrophy and is associated with a typical pattern of muscle weakness. Most patients with FSHD carry a large deletion in the polymorphic D4Z4 macrosatellite repeat array at 4q35 and present with 1-10 repeats whereas non-affected individuals possess 11-150 repeats. An almost identical repeat array is present at 10q26 and the high sequence identity between these two arrays can cause difficulties in molecular diagnosis. Each 3.3-kb D4Z4 unit contains a DUX4 (double homeobox 4) gene that, among others, is activated upon contraction of the 4q35 repeat array due to the induction of chromatin remodelling of the 4qter region. A number of 4q subtelomeric sequence variants are now recognised, although FSHD only occurs in association with three 'permissive' haplotypes, each of which is associated with a polyadenylation signal located immediately distal of the last D4Z4 unit. The resulting poly-A tail appears to stabilise DUX4 mRNAs transcribed from this most distal D4Z4 unit in FSHD muscle cells. Synthesis of both the DUX4 transcripts and protein in FSHD muscle cells induces significant cell toxicity. DUX4 is a transcription factor that may target several genes which results in a deregulation cascade which inhibits myogenesis, sensitises cells to oxidative stress and induces muscle atrophy, thus recapitulating many of the key molecular features of FSHD.

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Section: Clinical Presentationmentioning

confidence: 99%

Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?

et al. 2011

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“…Evidence from one Class II study 37 and one Class III study 38 suggests that respiratory insufficiency and reduced pulmonary function may occur, with estimated frequencies varying from 1.25% (95% confidence interval [CI] 0.5%-2%) to 13% (95% CI 0.7%-27%). Given the imprecision of these estimates and the quality of the evidence, we cannot reliably estimate the frequency and severity of respiratory compromise in patients with FSHD.…”

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confidence: 99%

Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy

et al. 2015

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Objective: To develop recommendations for the evaluation, diagnosis, prognostication, and treatment of facioscapulohumeral muscular dystrophy (FSHD) from a systematic review and analysis of the evidence.Methods: Relevant articles were analyzed in accordance with the American Academy of Neurology classification of evidence schemes for diagnostic, prognostic, and treatment studies. Recommendations were linked to the strength of the evidence and other factors.

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“…W zdecydowanej większości przypadków zaoszczędzone są natomiast mięśnie gałkoruchowe i opuszkowe. Niepełnosprawność wymagająca korzystania z wózka inwalidzkiego dotyka od 10% do 20% chorych, natomiast u 1/3 objawy przez całe życie dotyczą wyłącznie mięśni twarzy i ramion [4]. Do najczęstszych pozamięśniowych objawów choroby mieszczących się w obrazie klinicznym FSHD należą uszkodzenia narządu słuchu i wzroku.…”

Section: Objawy Kliniczneunclassified

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

2016

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StreSzczenieDystrofia 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.

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Ventilatory support in facioscapulohumeral muscular dystrophy

Cited by 110 publications

References 10 publications

Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?

Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?

Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy

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

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