Publication:
Myotonic Dystrophy

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Date

2010

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Research Projects

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[No abstract available]

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Atrophy and weakness of sternomastoids and hyperlordosis of neck ("swan neck"), Electromyogram (EMG) investigation - revealing electrical myotonia, Gastrointestinal symptoms - in as many as 80% of patients, Iridiscent posterior subcapsular cataracts (metachromatic or "Christmas tree") - found by slit-lamp examination, Myotonic dystrophy (DM, dystrophia myotonica or Steinert's disease) - most common form of muscular dystrophy in adults, Myotonic dystrophy type 1 (DM1), Myotonic dystrophy type 1 (DM1), by aberrantly expanded CTG repeat in 3′-untranslated region of DM protein kinase (DMPK) gene, Myotonic dystrophy type 2 (DM2), Prevalence of DM1 - approximately 5 per 100 000 in American and European populations

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