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 disease affecting the nerves and muscles and is characterized by chronic weakness of the muscles of the face and limbs, and the muscles that control breathing
  • Many signs and symptoms of MG can overlap with Pompe disease

Signs and Symptoms

  • Like Pompe disease, muscle weakness is the prominent feature of MG
  • Other symptoms that are similar to those of Pompe disease include difficulty swallowing, shortness of breath, and instability or waddling while walking
  • Unlike Pompe disease, the muscles that are most commonly affected in MG are those that control facial expressions, eye and eyelid movement, and swallowing

Diagnosis

  • Unlike Pompe disease, MG is an autoimmune disease and its cause is not related to defects in any specific gene
  • Once MG is suspected, various tests may be performed in order to confirm diagnosis, including a Tensilon test, electromyography (a tool used to study the electrical activity of the muscles), and/or blood tests that can identify the particular immune defect 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 Diagnostic Journey: Infantile-Onset Pompe Disease and Diagnostic Journey: Late-Onset Pompe Disease