Myasthenia
Gravis

Muscle Weakness Abnormal Gait or Difficulty Walking Elevated Creatine Kinase Respiratory Insufficiency Difficulty Swallowing Exercise Intolerance
Myasthenia Gravis
20 per 100,000
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Pompe disease
2.5 per 100,000
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Overview

  • Myasthenia gravis (MG) is an autoimmune neuromuscular disease characterized by chronic weakness and rapid fatigue of voluntary muscles including those of the face and limbs, as well as the muscles that control breathing
  • Many signs and symptoms of MG can overlap with Pompe disease

Signs and Symptoms

  • Similar to Pompe disease, muscle weakness is the prevailing feature of MG
  • Other symptoms shared with Pompe disease include difficulty swallowing, shortness of breath and gait characterized as unstable or waddling
  • Unlike Pompe disease, the muscles which are most commonly affected by MG are those muscles which control facial expressions, eyelid movement, control of the eyes, and swallowing

Diagnosis

  • Unlike Pompe disease, MG is an autoimmune disease and its cause is not tied to defects in any specific gene
  • After MG is suspected, various tests may be performed in in order to confirm diagnosis, which can include a Tensilon test, electromyography, and/or blood tests that assess the particular autoimmunity observed in MG

The information presented is intended as a brief overview. It is not an exhaustive summary of myasthenia gravis. For more information about MG, visit:
https://rarediseases.info.nih.gov/diseases/7122/myasthenia-gravis

For more information on the diagnosis of Pompe disease, visit Diagnosis of Infantile-Onset Pompe Disease and Diagnosis of Late-Onset Pompe Disease