Teaching Video NeuroImages: Inverted Beevor sign in facioscapulohumeral muscular dystrophy
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چکیده
منابع مشابه
Teaching NeuroImages: Hemiatrophy as a clinical presentation in facioscapulohumeral muscular dystrophy.
A 62-year-old, right-handed man with no family history presented with hemiatrophy (atrophy on one side of the body). He noticed right arm weakness in adolescence, and subsequently right foot drop. Neurologic examinations, including electromyography and imaging, showed right side predominant weakness/atrophy (figure). No asymmetry was apparent in systemic organs, including the brain. Southern bl...
متن کاملFacioscapulohumeral muscular dystrophy
Facioscapulohumeral muscular dystrophy (FSHD) is a progressive myopathy with a relatively late age of onset (usually in the late teens) compared with Duchenne and many other muscular dystrophies. The current FSHD disease model postulates that contraction of the D4Z4 array at chromosome 4q35 leads to a more open chromatin conformation in that region and allows transcription of the DUX4 gene. DUX...
متن کاملTeaching video neuroimages: trapezius myotonia percussion sign in myotonic dystrophy type 2.
Myotonic dystrophy type 2 (DM2) is an autosomal dominant disorder with proximal weakness, muscle pain, and early-onset cataracts. In comparison with myotonic dystrophy type 1 (DM1), myotonia is less symptomatic, more proximal, and harder to detect during clinical and electrodiagnostic testing. Here we document the presence of trapezius myotonia in patients with DM2 (video on the Neurology® Web ...
متن کاملTeaching NeuroImages: characteristic phenotype of Ullrich congenital muscular dystrophy.
A 21-year-old woman presented with clinically classic signs of Ullrich congenital muscular dystrophy (figure). Genetic testing of collagen VI genes revealed a homozygous mutation c.2329T.C, p.Cys777Arg in the COL6A2 gene, consistent with the clinical diagnosis. Collagen type VI–related disorders represent a spectrum of overlapping phenotypes: Bethlem myopathy at the milder end, and Ullrich cong...
متن کاملEarly onset facioscapulohumeral muscular dystrophy.
We report 10 patients (5 familial, 5 sporadic) with facioscapulohumeral muscular dystrophy (FSHD) with onset of facial and shoulder girdle weakness in early infancy. They showed the same broad range of clinical signs and symptoms as can be seen normally in FSHD. In 7 patients Southern blotting with p13E-11 was performed which showed an abnormal EcoRI fragment (13-22 kb) in 6 of them. We conclud...
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ژورنال
عنوان ژورنال: Neurology
سال: 2020
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0000000000010646