Myotonic muscular dystrophy

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Autosomal dominant trinucleotide expansion on the DMPK (Becker and Duchenne are X-linked recessive)

Presentation

  • Onset age 12 - 30
  • Delayed muscle relaxation (grip myotonia)
  • Skeletal muscle weakness of the face, forearms, hands, ankle dorsiflexors (bilateral foot drop)
  • Dysphagia
  • Cardiac arrhythmias
  • Catartacs, testicular atrophy, frontal baldness

Complications

Respiratory/heart failure