Not sure
it’s Pompe?

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 Mobile_LightDot Mobile_LightDot Mobile_LightDot Mobile_LightDot Mobile_LightDot
Duchenne
Muscular Dystrophy

1.7-8.2 per 100,000
Mobile_LightDot Mobile_LightDot Mobile_LightDot Mobile_LightDot Mobile_LightDot Mobile_LightDot
Limb-Girdle
Muscular Dystrophy

0.8-6.9 per 100,000
Mobile_LightDot Mobile_LightDot Mobile_LightDot


Myasthenia Gravis
20 per 100,000
Mobile_LightDot Mobile_LightDot
Mobile_LightDot Mobile_LightDot Mobile_LightDot
Inflammatory Myopathy
14 to 25 per 100,000
Mobile_LightDot
Mobile_LightDot
Mobile_LightDot Mobile_LightDot
Polymyositis
2.7 to 70 per 100,000
Mobile_LightDot Mobile_LightDot Mobile_LightDot
Mobile_LightDot Mobile_LightDot
Pompe disease
2.5 per 100,000
Mobile_DarkDot Mobile_DarkDot Mobile_DarkDot Mobile_DarkDot Mobile_DarkDot Mobile_DarkDot

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