Thursday, 11 October 2012

Dystrophia myotonica

Autosomal dominant inheritance

Clinical features
  • Cataracts
  • Frontal baldness
  • Ptosis
  • Facial weakness
  • Progressive distal muscle weakness
  • Mild intellectual impairment
  • Cardiomyopathy
  • Hypogonadism
  • Glucose intolerance
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