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|
1.7-8.2 per 100,000
0.8-6.9 per 100,000
20 per 100,000
14 to 25 per 100,000
2.7 to 70 per 100,000
2.5 per 100,000