The differential diagnosis of Pompe disease can be challenging, given its rarity and the overlap of signs and symptoms with other diseases.
Awareness of these diseases can help minimize diagnostic delays and may expedite the accurate diagnosis and management of the patient that you suspect has Pompe disease.
Here are some of the diseases that may have similar signs and symptoms as Pompe disease.
Please note: the symptoms listed below are not an exhaustive list and may not be inclusive of all symptoms that someone with these diseases may encounter.
| Muscle Weakness | Abnormal Gait or Difficulty Walking | Elevated Creatine Kinase | Respiratory Insufficiency | Difficulty Swallowing | Exercise Intolerance | |
Myopathy, General  |
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| Duchenne Muscular Dystrophy 1.7-8.2 per 100,000 |
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| Limb-Girdle Muscular Dystrophy 0.8-6.9 per 100,000 |
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| Myasthenia Gravis 20 per 100,000 |
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| Inflammatory Myopathy 14 to 25 per 100,000 |
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| Polymyositis 2.7 to 70 per 100,000 |
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| Pompe disease 2.5 per 100,000 |
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For more information on the diagnosis of Pompe disease, visit Diagnosing Infantile-Onset Pompe Disease and Diagnosing Late-Onset Pompe Disease
