Teaching NeuroImages: Coats disease revealing 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 کاملCeliac Disease Associated with Facioscapulohumeral Muscular Dystrophy
Introduction. The association of celiac disease and facioscapulohumeral muscular dystrophy was not reported earlier in the literature. Case presentation. A 35-year-old woman diagnosed clinically with facioscapulohumeral muscular dystrophy 23 years ago. In the family history patients’ mother was diagnosed with facioscapulohumeral muscular dystrophy, too. Physical examination revealed bilateral f...
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 کاملSubclinical facioscapulohumeral muscular dystrophy masquerading as bilateral Coats disease in a woman.
is unlikely to be explained on the basis of deep intronic mutations or regulatory element mutations given the normal results of reverse transcription–PCR. Normal reverse transcription–PCR results also rule out the possibility of gene rearrangement as a potential cause. Therefore, the causative mutation must reside in an as yet unannotated gene or intergenic regulatory element within the minimal...
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...
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ژورنال
عنوان ژورنال: Neurology
سال: 2016
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0000000000002899