منابع مشابه
Facio-scapulo-humeral dystrophy (FSHD) – the latest update
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. Prac...
متن کاملIntermittent Pre-Excitation-Syndrome in Facio-Scapulo-Humeral Muscular Dystrophy
Pre-excitation-syndrome has not been reported as a phenotypic feature of facio-scapulo-humeral muscular dystrophy (FSH-MD). In a 39-year-old male with FSH-MD due to a reduced tandem repeat size in the D4Z4-locus on chromosome 4q35, cardiac involvement, manifesting as an incomplete right bundle-branch-block, tall T-waves in V 3-5, ST-elevation in V 2-4, and mild thickening of the left ventricula...
متن کاملI-19 Neuromuscular electrical stimulation training in facio-scapulo-humeral muscular dystrophy
The early pathophysiologic study showed increasing evidence that autoimmunity is implicated in the pathogenesis of neuromyotonia. Antibodies to voltage gated potassium channel were detected in the serum of patients who had peripherical nerves hyperexcitability and also Morvan’s disease or limbic encephalitis. These discoveries offered new approaches to treatments. Recently, antibodies previousl...
متن کاملP-6 Unusual concurrence of Facio-scapulo-humeral dystrophy and Williams Syndrome in a young boy
P-5 Search for mutations in the RYR1 gene in Italian patients with congenital myopathy D. Cassandrini, R. Trovato, M. Pane, A. D’Amico, G. Comi, R. Battini, C. Fiorillo, F.M. Santorelli, C. Minetti, C. Bruno; and the Italian Network for Congenital Myopathies IRCCS “Stella Maris”, Pisa, Italy; 1 Policlinico Gemelli, Rome, Italy; 2 IRCCS “Bambin Gesù”, Roma, Italy; 3 Policlinico Maggiore, Milano,...
متن کاملFacio-scapulo-humeral muscular dystrophy and its connection with facio-scapuloperoneal muscular dystrophy 4q35-linked: some historical remarks
In the present time there is the opinion that FSHD is a disease genetically heterogeneous, but homogeneous from a clinical point of view: “...clinical, genetic and epigenetic features of facioscapulohumeral muscular dystrophy (FSHD) allowed the identification of two forms of FSHD, the classical autosomal dominant FSHD type 1, and the FSHD type 2 characterized by an identical clinical phenotype ...
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ژورنال
عنوان ژورنال: BMJ
سال: 1938
ISSN: 0959-8138,1468-5833
DOI: 10.1136/bmj.1.4025.441