Myotonic Dystrophy

Physiology

  • Myopathy
  • Hypoventilation leads to hypoxia/ acidosis (with resultant pulmonary vasoconstriction)
  • Diaphragm is more susceptible to fatigue in the myotonic dystrophies

Diagnosis

  • Respiratory muscle dyskinesia (better performance during rhythmic than static efforts)
  • Abnormal expiratory muscle activity
  • Prolongation of diaphragmatic activity during expiration elicited by expiratory resistive loads

Clinical

  • Pulmonary HTN/Cor pulmonale

References

  • xxx