Myotonic Dystrophy

Last modified: 06 March 2022, 7:01:40 PM AEDT
  • Dystrophia myotonica
Definition / diagnostic criteria1 / 8
  • myotonia = increased muscle tone = muscle contractures
Classification2 / 8
  • DM1
    • usually begins in hands, feet, neck, face
    • arrhythmias
    • dilated cardiomyopathy
  • DM2 = Steinert disease
    • generally milder
  • most common myotonic syndrome
Aetiology / Causes / Risk Factors3 / 8
  • hereditary
  • AD inheritance
Pathophysiology4 / 8
  • abnormal Na/Cl channels
  • result = muscle in abnormal hyperexcitable state
  • muscle contracts but is unable to relax after contraction
Complications5 / 8
  • A = Airway
    • aspiration risk from weakness of pharyngeal muscles
  • B = Respiratory
    • weakness of respiratory muscles, leading to restrictive lung disease
  • C = Cardiovascular
    • arrhythmias
    • dilated cardiomyopathy
  • D = Neurological
    • Hypersomnia + central sleep apnoea + OSA
  • myotonic crisis
    • triggers
      • drugs (SCh, neostigmine)
      • surgery = manipulation, electrocautery, nerve stimulator
      • hypothermia / shivering
    • management
      • phenytoin / procainamide / quinine / IM lidocaine
      • ⬆VA
      • ineffective = NMBA, IV anaesthesia

Anaesthetic considerations6 / 8
  • Pre-op
    • MDT discussion around plans for surgery
  • Intra-op
    • caution myotonic crisis
      • drugs = SCh, ChEi
    • A = aspiration risk
    • C = anticipate HDI
    • D = ⬆sensitivity to CNS depressants (propofol, opioids, BDZ, barbituates)
    • E = maintain normothermia, prevent shivering
  • Post-op
    • B = anticipate need for postop ventilation
Common questions / related topics7 / 8
  • pregnancy
    • high risk patient
    • ⬆muscle weakness, heart failure, uterine atony, PPH
    • NA preferred for labour / VD / CS

Links / References8 / 8

https://en.wikipedia.org/wiki/Myotonic_dystrophy

https://www.myotonic.org/sites/default/files/MDF_LongForm_AnesGuidelines_01C.pdf