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Myotonic Dystrophy (MD)

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Topic updated on 09/07/17 7:03pm

Introduction
  • Definition
    • genetic disorder which results in a selective atrophy of type I muscle fibers
  • Genetics (type I)
    • autosomal dominant trinucleotide repeat (CTG) in DMPK gene 
    • abnormal myotonin protein kinase
  • Epidemiology
    • most common adult muscular dystrophy
Presentation
  • Symptoms 
    • facial weakness
    • inability to relax hand grip (myotonia)
      • classically described as "unable to let go of a doorknob" or "unable to release during a handshake"
    • cardiac conduction abnormalities (arrhythmia)
    • insulin insensitivity
    • frontal balding
    • cataracts
    • muscle wasting
    • testicular atrophy
Evaluation
  • Serology
    • increased serum CK
Treatment
  • Management - mostly symptomatic
    • pacemaker, if cardiac abnormalities are present
    • CPAP for obstructive sleep apnea (common)
    • physical conditioning
    • orthotics


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